Cases

Case1

A 5- months girl presented with wheeze and cough of two days duration. On examination temperature was 38.3 c, respiratory rate was 60 cycle /minute. Inspection of the chest revealed intercostal retractions with hyperinflation .On auscultation there was bilateral sibilant wheeze .On the next day the patient condition becomes more severe .Over the next 4 days the manifestation settled and the girl becomes completely normal .

Bronchiolitis  

Comment
Acute bronchiolitis is a viral infection of the small airways. Many viruses can be responsible for this type of infection, but respiratory syncytial virus is responsible for more than 50 % of cases. bronchiolitis commonly occurs in winter months and affects children in the first two years of life with a peak incidence at 3 – 6 months. The disease is self-limited with full recovery within one week, complications occur in less than 1 % of cases . bronchiolitis should be differentiated from other causes of wheezing especially bronchial asthma and bronchopneumonia.

Case2

A 2 –years –old boy presented with generalized tonic and colonic seizures which continued for 10 minutes and stopped spontaneously. There were no previous similar attacks in the child or in one of his near relatives. Examination revealed a sleepy child with normal body measurements. Pulse and blood pressure were normal, temperature was 39.5 C. Pharynx was red and tympanic membrane was dull and opaque. Examination of body systems including the neurological system revealed nothing abnormal. CBC revealed polymorphonuclear leukocytosis with normal other elements. Blood sugar, Serum calcium were normal
Febrile seizures
Comment
A febrile seizure is a convulsion in a child triggered by a fever. Such convulsions occur without any underlying neurologic cause.
febrile seizure affects otherwise healthy children between the ages of 6 months and 6 years, toddlers are most commonly affected. Febrile seizures are triggered by a rapid rise of body temperature.
Most febrile seizures are triggered by fevers from viral upper respiratory infections, ear infections, and many other extracranial infections. A simple febrile seizure stops by itself within a few seconds to 10 minutes, usually followed by a brief period of drowsiness or confusion.
A complex febrile seizure is one that lasts longer than 15 minutes, occurs in an isolated part of the body, or recurs during the same illness.
In a typical febrile seizure, the examination usually shows no abnormalities other than the illness causing the fever. Typically, a full seizure workup including an EEG, head CT, and lumbar puncture (spinal tap) is not warranted.

Case3

A 4-years- old boy presented with cough and wheeze for the first time. One week before the child had a choking episode while he eating water-melon. On examination the child has a good general condition with normal body measurement and vital signs. On chest examination there was decreased air entry and wheeze on the right side of the chest. Chest X ray showed emphysema of the right lung.

Foreign body inhalation   

Comment
Most    Foreign bodies lodge in the main stem bronchus, particularly the right bronchus since it has a more vertical course. Bronchial obstruction may result in either collapse or emphysema according to the degree of obstruction. Bronchial Foreign body inhalation may be presented with Pneumonia in neglected cases. High index of suspicion with Bronchoscopy are crucial in the diagnosis of  Foreign body inhalation .

Case4

An 8-year old girl presented with acute onset pallor. There was no history of a prior hematological disorder or any history of blood transfusions. She was not taking any medications. On physical examination, the patient was markedly pale with icterus. Her pulse rate was 140/minute; respiratory rate 40/minute and blood pressure 90/60 mm Hg. There were multiple small bilateral cervical lymph nodes. She had hepatomegaly of 4 cm and splenomegaly of 8 cm below costal margin. Laboratory investigations revealed initial hemoglobin of 3.8 g/dl, WBC count 8000/mm3, platelets 123,000/mm3, and reticulocyte count 10%. Peripheral blood smear revealed spherocytes and poikilocytosis. Subsequent platelet counts were in the normal range. Her total bilirubin was 6.8 mg/dl with an indirect fraction of 5.6 mg/dl, aspartate transaminase 33 IU (Normal up to 50), alanine transaminase 10 IU (Normal up to 50), total protein 7.3 g/dl, albumin 3.9 g/dl and globulin 3.4 g/dl. Direct Coomb’s test was positive. The patient was initially transfused but had a recurrent severe drop in hemoglobin requiring multiple transfusions.

Auto-immune Hemolytic anemia    

Comment
 This patient shows typical features of acute hemolysis. Causes of acute hemolysis in children include glucose 6-phosphate dehydrogenase deficiency, Isoimmune hemolytic anemia , autoimmune hemolytic anemia . positive Coomb’s test in this case suggests autoimmune hemolytic anemia

Case5

An 8-year-old girl was admitted to our hospital with two weeks history of generalized, intermittent colicky abdominal pain followed by pain in both knees without any swelling. There was no history of bleeding from any site. Past and family history was unremarkable. On examination she was of average built with 118 cm height (10th percentile) and 22 kg weight (25th percentile). At the time of admission her blood pressure was high -130/85 mm Hg. She had periorbital puffiness along with pitting edema over both feet. Pallor was also present. Palpable purpuric rashes were present over both the lower limbs. Rashes first appeared over ankles and then progressed to involve knees and thighs. These were non-pruritic, rusty brown in color and between 3-10 mm. Her systemic examination was normal except mild abdominal distention. Joints were normal without any swelling or limitation of movement. Investigations revealed hemoglobin of 10.7 gm%, TLC-6,700/cu mm and ESR 62 mm in first hour, reticulocyte count 1.4% and platelet count 260×103/cum. On peripheral smear RBCs were normocytic normochromic with few microcytes and hypochromic cells. Urine analysis showed microscopic hematuria (15-20 RBCs/HPF) and stool for occult blood was positive. Renal function tests were deranged (blood Urea – 150 mg/dl, Serum Creatinine – 3.0 mg/dl. Liver function tests, serum calcium, phosphates and blood glucose were within normal range. chest and abdomen  X rays were normal. ASO titer was less than 200 IU/ml and CRP was negative, rheumatoid factor was 5.10 IU/ml (normal<14.00) and C4 levels 16 mg/dL (normal 10-40) and C3 levels were 25 mg/dl (normal 90-180 mg/dl). Throat swab culture was sterile.

Henoch Scholein Purpura (HSP)

Comment
 The combination of acute renal affection, rash, arthralgia and GIT symptoms is typical for HSP.

Case6

A 7-years old boy presented with poor appetite, nausea, and vague abdominal pain for several days. On examination body measurements were normal. The liver was 4 cm below the costal margin and tender. Mild jaundice was present. urine was positive for bilirubin. Serum bilirubin was 5.3 mg/ dl (3.5 mg/dl direct). Serum aspartate transaminase 560 iu/ liter, Serum alanine transaminase 780 iu/ liter and alkaline phosphatase 199 iu/ liter. Hepatitis B surface antigen and antibodies against hepatitis C were negative.

 

Viral hepatitis A

Comment
Hepatitis A virus infection is a common disease affecting children. Viral transmission is by feco-oral root and so the disease is common in situation of overcrowding and poor sanitation. Many other viruses and many drugs can cause hepatitis and should be considered in the differential diagnosis of hepatitis A infection. The prognosis for hepatitis A is excellent and there is no risk for chronic state.

Case7

A five-month-old male child presented with failure to gain weight. The birth weight was 2.5 kg. There was history of constipation since birth. On examination, he weighed 3.5 kg, height 47 cm and head circumference were 40.5cm. The anterior fontanel measured 1cm × 1cm. The posterior fontanel was open. The child was pale, and the skin looked mottled. The child had a weak but hoarse cry and there was generalized hypotonia. Investigations revealed: Hemoglobin 9.2 gm/dl, leucocyte count 5800/cu.mm. The liver function tests including serum proteins were normal. Thyroid function tests T3: 2 ng/dl (normal: 86-187 ng/dl), T4< 0.25 ng/dl (normal: 4.5-12.5 ng/dl), TSH 357.16 mIU/ml (normal: 0.4-5 mIU/ml). An ultrasound of the neck was done, the thyroid gland was not visualized in normal nor at any ectopic site, suggestive of thyroid agenesis.

Hypothyroidism   

Comment
Diagnosis of Hypothyroidism should be considered in every child with developmental delay particularly when combined with coarse features. Screening for congenital Hypothyroidism is now available and should be encouraged as delayed diagnosis eventually results in mental retardation.

Case8

A 2-year-old female child presented with a history of fever and sore throat of 4 days duration and one episode of seizure. The child was completely immunized for age. On physical examination. The temperature was 39°C, pulse rate 120/min, respiratory rate 34/minute and blood pressure was 100/70 mm Hg. Examination of the respiratory system, cardiovascular system and abdomen were found to be normal. Neurological examination revealed diminished consciousness, neck rigidity and increased tone in all four limbs and bilateral extensor plantar reflexes. Laboratory evaluation showed a hemoglobin of 9.4g/dl, leucocyte count of 16800/µm3 (Neutrophils 69%, lymphocyte 28%, monocytes 1% and eosinophils 2%). Serum electrolytes, renal and liver function tests, arterial blood gases and urinalysis were within normal limits. The cerebrospinal fluid (CSF) was turbid and contained 8600 leucocytes/mm3 (98% polymorphs). The CSF protein was 120 mg/100 ml and glucose was 10mg/100ml.

Meningitis

Comment
Meningitis usually presents with signs of systemic illness and meningeal irritation. Definitive diagnosis depends on lumbar puncture. Gram stain and culture are necessary to differentiate bacterial and viral infections. Partially treated bacterial cases may be difficult to diagnose as no organisms will be found on gram stain and culture. Most children make a full recovery with proper treatment. Occasionally neurological sequalae are found, particularly in neonates.

Case9

A 4-week- old boy presented with persistent vomiting after feeding for 6 days The vomiting was projectile and bile stained. Observation of the bay during feeding revealed visible gastric peristalsis. Body weight was 3 kg and signs of dehydration were overt. Palpation of the abdomen revealed an olive like mass in the right upper quadrant.

Pyloric stenosis

Comment
age, projectile vomiting, visible gastric peristalsis and olive mass point easily to the diagnosis.

Case10

A 9-year-old boy developed swelling of the left knee. There was no history of trauma. There had been no recent illnesses. On examination height, (70th centile). weight, (50th centile). Temperature, 37.9°C orally. Pulse, 95 beats/mm; blood pressure, 105/65 mmHg. Cardiac auscultation revealed Short soft mid systolic ejection murmur.   Examination of other body organs revealed nothing important. Right knee was swollen, tender, with restricted movement. Hemoglobin: 9.2 g/I00 ml. White blood count 10.1 ´ 109/liter.  (Neutrophils. 73%; lymphocytes, 24%; monocytes, 2%. Eosinophils, 1%). ESR and CRP were elevated. ASOT 600 IU unit .

Rheumatic Fever    

Comment
Rheumatic fever is an inflammatory disease that may develop after an infection with B hemolytic streptococci bacteria
Rheumatic fever primarily affects children between ages 5 and 15 and occurs approximately 15 -20 days after strep throat or scarlet fever.
Diagnosis
In order to standardize the diagnosis of rheumatic fever, several minor and major criteria have been developed. These criteria, in conjunction with evidence of recent streptococcal infection, establish a diagnosis of rheumatic fever.
The major diagnostic criteria include:
• Carditis
• Polyarthritis
• Subcutaneous skin nodules
• Chorea (Sydenham’s chorea)
• Erythema marginatum.
The minor criteria include fever, arthralgia (joint pain),and others
Two major criteria, or one major and two minor criteria, when there is also evidence of a previous strep infection (positive culture or rising antibody level — ASO or anti DNAse B) support the diagnosis of rheumatic fever.
Complications
• Damage to heart valves (eg. mitral stenosis and aortic stenosis)
• Endocarditis
• Heart failure
• Arrhythmias

Case11

A 4-years old girl complained of pain during micturition. Detailed history revealed three previous attacks of dysuria. Body measurements and vital signs were normal apart from low grade pyrexia. Examination of body systems revealed  no abnormal physical signs . Midstream sterile urine sample was collected and sent to the laboratory. Urine examination revealed pus cells 15/ HPF and bacterial count was > 100,000. A culture sensitivity was performed.

Urinary tract infection   

Comment
Urinary tract infection is a common problem in children affecting about 1% of boys and about 2% of girls. The clinical manifestations of urinary tract infection vary with age and usually nonspecific and sometimes it is asymptomatic. A high degree of suspicion is needed for early diagnosis to avoid serious complications of this disease. A large number of children with urinary tract infection have anatomical renal anomalies. imaging may be needed to identify these anomalies.

Case12

A 9- months boy presented with paroxysmal cough followed by vomiting of two weeks duration. The coughing bouts were 10 to 12 per day, lasting for 2-3 minutes and associated with facial congestion and occasional cyanosis. The child did not receive routine vaccination. Apart from underweight body examination was unremarkable. Chest X ray was normal and blood count revealed lymphocytosis. During the next days, feeding deteriorated and the general condition worsened with increasingly severe paroxysms.

Whooping cough    

Comment
This clinical picture of paroxysmal cough followed by vomiting is characteristic of Whooping cough. Failure of immunization supports the diagnosis. However other causes of paroxysmal cough should be considered.

Case13

A 2.5 –years old girl presented with delayed motor achievement. The girl was asphyxiated at birth that needed resuscitation until spontaneous breathing was established. Examination showed abnormal gait with less movement on the left side. The left arm was abducted at the shoulder and flexed at the elbow. The left side of the body showed hypertonia and hyper-reflexia. The social and language skills are within normal limits for age .

Cerebral palsy  

Comment
Cerebral palsy is a group of disorders characterized by motor dysfunction due to injury of the developing brain.

 Classifications of cerebral palsy include spastic, dyskinetic, ataxic, and mixed cerebral palsy. Spastic cerebral palsy includes about 50% of cases. Dyskinetic (athetoid) cerebral palsy involves development of abnormal movements (twisting, jerking, or other movements). Ataxic cerebral palsy involves tremors, unsteady gait, loss of coordination, and abnormal movements. The mixed type involves any combination of the above symptoms.

Case14

A 6- month old boy presented with constipation started in the neonatal period. The baby was born following normal pregnancy and labor with a birth weight of 3.2 kg. On examination, the baby was emaciated with marked abdominal distension. Rectal examination was free of stool. Barium enema showed a dilated large bowl with sudden narrowing to a small, constricted segment

 

Congenital megacolon (Hirschsprung Disease)

Comment
In Hirschsprung’s disease, the ganglia are missing, usually from only a few centimeters of bowel, but sometimes from long segments of bowel. Segments in which there is no peristalsis will not pass any digested matter beyond that point. The end result is that the bowel cannot push material through and is effectively obstructed.

Intestinal contents accumulate behind the obstruction, thus causing the bowel and abdomen to become distended. If the condition is severe, the newborn may fail to pass meconium or stool, and the newborn may vomit.

Milder cases may not be diagnosed until a later age. In older children, the disease may be characterized by chronic constipation, abdominal distention, and decreased growth rate.

Case15

A 2- years old boy presented with a harsh barking cough of one day duration with noisy breathing. Two days before he had a runny nose. On examination there was a mild inspiratory stridor with supraclavicular and intercostal retractions. Body weight was 11 kg, Stature was 70 cm, Temperature was 38.3 C, Pulse 90 beat / minute. Chest examination was normal apart of scattered ronchi. Other body systems were clinically normal.

Croup 

Comment
Croup is breathing difficulty accompanied by a “barking” cough and stridor

 Viral croup is the most common. Other possible causes include bacteria and allergies.

Croup tends to appear in children between 3 months and 5 years old, but it can happen at any age.

Most children have what appears to be a mild cold for several days before the barking cough becomes evident. As the cough gets more frequent, the child may have labored breathing or stridor

A physical examination may show chest retractions with breathing. Listening to the chest through a stethoscope may reveal prolonged inspiration or expiration, wheezing, and decreased breath sounds.

Children with croup are usually diagnosed based on the parent’s description of the symptoms and a physical examination.

Case 16

A 5- years old boy presented with muscle weakness started in the lower limps and progressed to involve the upper limps within few days. Body measurements and vital signs were normal. Neurological examination revealed muscle weakness marked in both legs with arms less severely affected. Generalized hypotonia and hyporeflexia were found. CSF examination was normal except for moderate elevation of proteins.

Guillain- Barre syndrome

Comment

Guillain-Barre syndrome is a disorder caused by nerve inflammation involving progressive muscle weakness or paralysis, which often follows an infectious illness. Guillain-Barre syndrome may occur in association with viral infections like mononucleosis, and herpes simplex, or after infections with bacteria (such as mycoplasma), and some types of diarrhea

The disorder progresses rapidly (from days to a few weeks), causing weakness or paralysis equally on both sides of the body. As weakness starts in the legs and then spreads to the arms, it is referred to as ascending paralysis. At the same time, patients may notice tingling, foot or hand pain, and clumsiness. The beginning phase of the illness is a rapid worsening that may take only a few hours to reach the most severe symptoms. These severe symptoms may last up to 3 weeks. This is followed by a plateau phase of no changes, then a recovery phase of improvement over days to 6 months or longer.

Case 17

A one year old boy presented with inability to eat or drink with sore mouth . On examination the boy was ill and irritable. Body temperature was 40 C and mild dehydration was detected. Cervical lymph nodes were enlarged and tender. Mouth examination revealed vesicles on a red inflamed base with ulceration in some of them. These lesions are located over the tongue, palate, gums and pharynx .

Herpetic stomatitis

Comment

Herpetic stomatitis is a contagious viral illness caused by Herpes virus hominis (also herpes simplex virus, HSV) and is seen mainly in young children. This condition probably represents their first exposure to herpes virus and can result in a systemic illness characterized by high fever, blisters, ulcers in the mouth, and inflammation of the gums.

The inside of the cheeks and tongue frequently develop ulcers 1-5 mm in diameter with a grayish-white base and a reddish perimeter. These ulcers are very painful and cause drooling, difficulty swallowing, and decrease in food intake.

Case 18

A 5 years old girl presented with severe epistaxis which was difficult to control pf two days duration. On examination the general condition was good with normal anthropometric measurements for age and normal vital signs. Skin shows petechial rash with multiple bruises all over the body . Blood count was normal except for thrombocytopenia. Coagulation studies were normal except for prolonged bleeding time. Bone marrow examination showed increased megakaryocytes with normal red and white cell precursors.

Idiopathic thrombocytopenic purpura .

Comment

Idiopathic thrombocytopenic purpura is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system.

The disease occurs when immune system cells, called lymphocytes, produce antibodies against platelets. Platelets are necessary for normal blood clotting. The presence of antibodies on platelets leads to their destruction in the spleen.

Symptoms

• Nosebleed
• oral bleeding
• Bleeding into the skin – also called petechial rash
• Bruising

 

Investigations

Tests include:

1. Complete blood count (CBC) shows low platelet count.
2. Bone marrow aspiration or biopsy appears normal.
3. coagulation studies are normal.

A 2-years old girl presented with high grade pyrexia and manifestation of upper respiratory tract infection of 4 days duration. On examination the girl was markedly ill with body temperature of 39.6 C. There was runny nose and bilateral conjunctivitis. Oral cavity examination showed small white spots on reddened buccal mucosa opposite the molar teeth. On the 5th day a maculopapular rash covered the face and upper trunk.

Measles

Comment
Measles is caused by a virus. The infection is spread by contact with droplets from the nose, mouth, or throat of an infected person. The incubation period is 8 to 12 days before symptoms generally appear.

Manifestations

• sore throat
• runny nose
• cough
• muscle pain
• fever
• Conjunctivitis
• Koplik’s spots
• photophobia
• rash
• maculopapular rash
• appears around the fifth day of the disease
• may last 4 to 7 days
• usually starts on the head and spreads to other areas, progressing downward

A neonate aged 4 day presented with jaundice noticed by parents at the end of second day. She was born by a normal vaginal delivery at term ad weighing 3.1 kg. Apart of jaundice clinical examination revealed nothing abnormal. Serum bilirubin was 8 mg / dl (mostly unconjugated) . The blood groups of both mother and baby were O RH positive. Other investigations were normal.

Physiologic neonatal jaundice 

Comment
Neonatal jaundice is a condition caused by increased levels of bilirubin. Several conditions may be associated with neonatal jaundice .But the most common is physiologic jaundice  .    

At birth, babies have a relatively immature liver function. Therefore, jaundice is present to some degree in almost all newborns. Even the normal destruction of red blood cells by the liver in the newborn infant can cause jaundice. This form of jaundice is called physiologic and usually appears between the 2nd and 5th days of life and clears by 2 weeks. It usually causes no problems.

An 18- month boy presented with diarrhea and pyrexia of one day duration. Diarrhea was watery with vomiting twice. Physical examination revealed an ill boy with a body temperature of 39.5 C. Signs of mild dehydration was evident. Ear examination revealed red and congested tympanic membranes. Body measurements and other body systems were normal .

Acute otitis media 

Comment
While there are different types of ear infections, the most common is otitis media, which means infection of the middle ear.

Ear infections are common in infants and children in part because their eustachian tubes become clogged easily.

Anything that causes the eustachian tubes and upper airways to become inflamed or irritated, or cause more fluids to be produced, can lead to a blocked eustachian tube.

Symptoms   

An acute ear infection causes pain. In infants, the clearest sign is often irritability and inconsolable crying. Many infants and children develop a fever or have trouble sleeping.

Other possible symptoms include:

• Fullness in the ear
• Feeling of general illness
• Vomiting
• Diarrhea
• Hearing loss in the affected ear

Signs

Using an otoscope there may be areas of dullness or redness or there may be fluid behind the eardrum. The fluid may be purulent. perforation in the eardrum may be found

A 9-month-old boy presented with failure to thrive. He was born at term with normal vaginal delivery and the birth weight was normal. On examination the body weight was at the 3rd centile and the length was at 25th centile for age. Body temperature was normal, and the pulse was bounding. Cardiac examination revealed enlarged heart with marked precordial impulse. Auscultation revealed moderately loud pulmonary component of the second heart sound and a machinery continuous murmur under the left clavicle. Chest X ray showed enlarged heart with plethoric lung fields.

Patent ductus arteriosus  

Comment
Patent ductus arteriosus (PDA) is a condition where the ductus arteriosus fails to close after birth.

Manifestations

There may be no symptoms.

Occasionally poor feeding and  shortness of breath may occur

Patients with PDA have a characteristic machinery and continuous heart murmur. The diagnosis is confirmed with an echocardiogram

A 5- years old girl presented with fever, abdominal pain, and occasional cough. Birth history, developmental history and nutritional history were normal. She received all routine vaccinations. On examination she looked ill with normal body measurements. Body temperature was 39.4 C and respiratory rate was 48 cycle / minute. Chest examination revealed chest indrawing and retractions. On auscultation there was bronchial breathing with fine crepitations on the same chest area.

Pneumonia

Comment
Pneumonia is an inflammation of the lungs caused by an infection. Many different organisms can cause it, including bacteria, viruses, and fungi.

Bacterial pneumonias tend to be the most serious and the most common cause, especially Streptococcus pneumoniae (pneumococcus).

Symptoms   

The main symptoms of pneumonia are:

• Fever with shaking chills
• Sharp or stabbing chest pain worsened by deep breathing or coughing
• Rapid, shallow breathing
• Shortness of breath
• Cough with greenish or yellow mucus; bloody sputum happens on occasion

Signs

tachypnea. Crackles, bronchial breathing sounds may be heard . percussion may show dullness.

 Investigations

1. Chest x-ray
2. Gram’s stain and culture of sputum
3. CBC to check white blood cell count; if high, this suggests bacterial infection
4. Arterial blood gases

A 3-year-old, previously healthy boy presented with fever of 4 days duration. Body measurements were normal for age. Temperature was39 C, Pulse 100/ minute. Blood pressure and respiratory rate were normal for age. On day five, a diffuse nonpruritic blanchable erythema all over his body which and most pronounced on the trunk. His face was flushed, and the skin was not tender. The child had circumoral pallor, tonsillar injection and enlargement, and a strawberry tongue. The rash disappeared within 3 days. On the seventh day of admission, desquamation started which was most pronounced on his trunk. White blood cell count was 9,000/mm3 with 18% band forms, 5% segmented neutrophils, 24% lymphocytes, and 3% monocytes; hemoglobin was 12.1 g/dL; platelet count was 218,000/ mm3; and erythrocyte sedimentation rate was 105mm/h. Serum electrolytes, blood urea nitrogen and creatinine levels, liver function tests and urinalysis were normal

Scarlet fever

Comment
Scarlet fever is a disease caused by an infection with group A beta-hemolytic streptococcal bacteria. The incubation period is short, generally 1-2 days. The streptococcal bacteria produce a toxin that causes a rash that appears one to two days after the onset of illness.

Manifestations

• Sore throat
• Fever
• Skin rash (The rash usually first appears on the neck and chest, then spreads over the body. It is described as “sandpapery”. The rash can last for over a week. As the rash fades, peeling (desquamation) may occur around the fingertips, toes, and groin area.
• strawberry tongue
• Pastia’s lines (bright red color in the creases of the underarm and groin)
• Chills
• malaise
• Muscle aches

A 5-year-old, previously healthy girl presented on the first day of generalized papulovesicular eruption involving his face, scalp, trunk, and mouth. On examination the girl was in good general condition with a body temperature of 37.6 C. Body measurements were normal for age. Vesicles and erosions were present on the buccal mucosa, scalp, and his entire body. Small ulcers were also present on the trunk. Examination of other body systems revealed nothing abnormal.

Varicella (Chickenpox)

Comment
The virus that causes chickenpox is varicella-zoster, a member of the herpesvirus family. The same virus also causes herpes zoster in adults.

Chickenpox is extremely contagious, and can be spread by direct contact, droplet transmission, and airborne transmission. When someone becomes infected, the pox usually appears 10 to 21 days later. Most cases of chickenpox occur in children younger than ten. The disease is usually mild, although serious complications sometimes occur.

Manifestations

Most children with chickenpox develop vague symptoms, such as a fever, headache, or loss of appetite, for a day or two.

The average child develops small, itchy, fluid-filled blisters over red spots on the skin. The blisters often appear first on the face, trunk, or scalp and spread from there. After a day or two, the blisters become cloudy and then scab. Meanwhile, new crops of blisters spring up in groups. The pox often appears in the mouth, in the vagina, and on the eyelids.

 

This infant has a humeral fracture.
a) What is the underlying diagnosis? b) What is the aetiology of this diagnosis? c) What may be seen on the skull radiograph?

a) Osteogenesis imperfecta
b) Heterogeneous group of disorders of Type I collagen synthesis c) Wormian bones (often occipital)
Previous fractures
Variable inheritance 1:10 000-50 000; 80% of cases are Type I. • Severity of the disease tends to be similar within one family. Inheritance: dominant in I and IV; recessive (usually) in II and III. Type II is often lethal in the perinatal period. Bones are short, broad and deformed.
Blue sclerae with premature arcus may be absent in Types III and IV. Dentinogenesis imperfecta with translucent teeth is associated. Deafness (>50% by 50 years) is common. Otosclerosis is also com- monly detected.
Other evidence of collagen disease includes: joint hypermobility, tendon rupture and aortic valve regurgitation.
Diaphyseal fractures are more common than metaphyseal lesions. Genetic abnormalities on chromosomes 7 and 17. The defect seems to be overhydroxylation of alpha 1 (1) chain collagen.
Antenatal diagnosis is available; mild disease may be detected in asymptomatic family members by the presence of Wormian bones on plain skull radiographs.

HPI

• 2 years old female with unrepaired single ventricle presents with left arm pain
• 2-3 episodes of holding left shoulder and saying there is pain
• No known trauma or injury
• Preceding runny nose and cough x 2-3days, Decreased PO intake, fevers x2day and vomiting twice.

Past Medical History:

• Single ventricle: common atrium, AV septal defect with dominant RV and DORV with moderate pulmonary stenosis
• No cardiac surgeries
• On no regular medications

INITIAL ER VISIT

• Normal exam (apart from cardiac murmur)
• Normal strength in all extremities
• Normal joint exam (no swelling full range of movement)

Discussed with Cardiology and Discharged home on symptomatic treatment

RETURN EC VISIT

• Continued vomiting, fever, poor PO
• New left leg pain and refusal to bear weight
• Generally fussy
• Exam:
• Refuses to bear weight on left leg
• No obvious joint tenderness or pain
• Full range of movement left leg joints
• Normal strength

LABS AND IMAGING

• WBC 12.4 Hgb 15 Plt 285 Seg 44.6 Band 5 Lymph 44.6
• Na 136
• K 0
• Cl 104
• HCO2 22
• BUN 13
• Cr 2
• ESR 10
• CRP 5
• Xray left lower extremity: Normal

Now what is the most likely cause of the patient refusal to bear weight on her left leg ???

• Transient synovitis
• Septic arthritis
• Osteomyelitis
• Fracture

Normal X ray exclude fracture. Normal range of movement exclude septic arthritis and transient synovitis. While normal x ray and acute phase reactant makes osteomyelitis a far possibility, still could be.

DIFFERENTIAL DIAGNOSIS

• Toxic/transient synovitis with URI
• Myalgias with viral illness
• Septic arthritis
• Fracture
• Myocardial infarction
• Ischemic stroke
• Seizure followed by Todd’s paralysis

HOSPITAL COURSE

• Admitted for fever and refusal to bear weight
• Started having seizure like episodes
• Subsequent left arm and leg weakness

What would be the next most appropriate test?

• EEG
• MRI brain with and without contrast
• CT brain
• Lumbar puncture

EEG will add very little information at that time, lumbar puncture is not advised before exclusion of major intracranial insult.

Though MRI is the best option, it is more difficult in children, needs sedation and not available all the time.

CT would be best option at that time

HOSPITAL COURSE

• CT head: large parenchymal hematoma Right frontal lobe and left posterior thalamic lesion concerning for hemorrhagic stroke
• Received antiepileptics and antibiotics
• No initial anticoagulation due to hemorrhage
• Stroke workup: thrombophilia risk factors (factor v leiden mutation)

Q: Congenital heart disease is a risk factor for both hemorrhagic and thrombotic stroke

• True
• False

Answer: true

HPI

• 3-year-old girl with 15 days of daily fever (38.5-40 Celsius)
• Improving cough and congestion
• Recently treated with amoxicillin for acute otitis media finished 5 days ago, ear pain resolved with antibiotics but not fever
• 5 kg weight loss since ill
• decreased appetite, decreased UOP
• no constipation or diarrhea
• no dysuria

Past medical history:

• malaria flairs in past
• Born in Nigeria and Moved to US 1 year ago, no travel since then
• Negative PPD
• Immunizations: on catch up schedule

PHYSICAL EXAM

• Vital Signs:
• T 39.9 HR 127   BP 89/55   RR 35   oxygen saturation 99% RA   Wt 11.4 kg (<3rd percentile)
• General:
• Ill appearing, very thin. Awake, alert.
• General examination:
• Pale conjunctiva.
• Neck lax.
• Mild nasal congestion.
• Normal tympanic membrane
• CV: Regular rhythm. 2/6 systolic ejection murmur. CRT <3 secs
• Pulmonary: Tachypneic. No retractions. No abnormal sounds.
• Abd: Soft, non-distended, non-tender. No HSM.
• Neuro: Moves extremities spontaneously.
• Skin: No rash. No edema. LN: No appreciable lymphadenopathy

Diagnosed as a case of FUO and admitted to hospitaal

• Investigations:
• WBC 6  Seg 25%     Band 21%   Lymph 50%   Mono 4%  Eos 0% Hgb 9.2 MCV 73, ANC 2800         Plt 109
• ESR 81
• CRP 7.3
• CXR: Enlarged cardiac silhouette
• Mg 2 Phos 4.3 AST 91 ALT 55 Alk phos 143 GGT 86 Alb 3.1 Bili 0.1
• Na 135 K 4.2 Cl 97 CO2 25 BUN 13 Cr 0.25 Glucose 101 Ca 8.

DIFFERENTIAL DIAGNOSIS

• Rheumatic fever
• Malaria
• Oncologic
• Viral illness (adenovirus, EBV, enterovirus)
• HIV
• Pneumonia
• Endocarditis
• Kawasaki
• Myocarditis
• Hepatitis
• HLH

FURTHER WORKUP

• UA: Negative for protein, ketones, blood, nitrite, leukocytes
• HIV: negative
• Malaria smear (x2): negative Peripheral smear: No abnormal cells
• Ferritin 802
• LDH 1354
• uric acid 1.2
• INFECTIOUS DISEASES
• EBV and CMV: past EBV infection
• Parvovirus, Bartonella, Rickettsia panel and Typhus fever ab à all negative
• Flu, RSV, adeno, entero, Human Meta Pneumo viruses à negative
• Hepatitis panel: normal
• QuantiFERON: negative
• Brucella neg
• Stool analysis and culture negative

FINAL RESULT

Initial blood culture: Salmonella Typhi, 3 days of positive blood cultures

• IMMUNOLOGY AND HEMATOLOGY
• CH50 (complement activity): high
• mmunoglobulins: normal to high
• Iron panel: consistent with iron deficiency
• Hgb electrophoresis: normal

HOSPITAL COURSE

• Started on ceftriaxone with positive blood culture, received 14 days IV
• Developed abdominal pain and distension on day 7, Xray showed constipation
• Fever persisted until day 9 •
• CRP and ESR returned normal
• Discharged home with boost supplement for weight and iron supplement for anemia

 

TYPHOID FEVER

HPI

• 40W6D female delivered by C-section due failure to progress
• presented with recurrent Episodes of non-bilious vomiting on first day of life. no other symptoms
• NICU admission for evaluation.
• Initial examination was unremarkable except for mild abdominal distension
• abdominal x ray showed dilated air loops
• Contrast enema normal
• Decision was made to continue observation

INITIAL NICU COURSE

The assigned nurse called the doctor as she noticed Episodes of respiratory pauses (<20sec) associated with Perioral cyanosis

Doctor PHYSICAL EXAM

Initial VS: T 36.8 HR 142 BP 85/52  RR 36  oxygen saturation 88% Wt 3.8kg

General: Sleepy but arousable with stimulation.

Mild scleral icterus.

Lax Neck. No nasal congestion. CV: regular heart rate. No murmurs. femoral pulses well felt. Pulmonary: Intermittent pauses of 10sec each. One with 5 secs of perioral cyanosis with saturation 70%. Lungs no abnormal sounds. Abd: Mild distension, nontender. Decreased bowel sounds. No HSM. Neuro: Decreased tone all extremities. Moves extremities spontaneously. Skin: Mild jaundice Hypoglycemia: glucose 40

What is the immediate next step?

Patient was put on 2L oxygen with improved saturation

What is the next step?

patient Received D10 bolus of 2 ml/kg became More awake, then episode of emesis followed by apnea and cyanosis

• Patient intubated for airway protection and apnea

DIFFERENTIAL DIAGNOSIS

• Sepsis
• Metabolic disorder
• Pyloric stenosis
• Intestinal obstruction
• Liver disease
• UTI
• Congenital heart disease

investigations

WBC 14 S  29%, Band 8%, Lymph 45%, Mono 15%, Eos 0.8% Hgb 17 Plt 438 Ca 10.6 iCa 1.28 Mg 2.6 Phos 5.6 AST 59 ALT 29 Alk phos 244 GGT 222 Conj bili 0 Unconj bili 12.6 Albumin 4.3 Ammonia 28 Na 142 K 5.6 Cl 106 CO2 23 BUN 3 Cr 0.65 Glucose 56

Urinalysis: Negative for protein, ketones, blood, nitrite, leuk SG 1.020, pH 6.0

CSF: WBC 9, RBC 2450, glucose 79, protein 194

Rapid RSV: negative Winter respiratory viral panel: negative HSV CSF and blood PCR: Negative Enterovirus CSF and blood PCR: Negative

• Pyloric US: Negative for pyloric stenosis
• CXR/AXR: No opacities. Nonobstructive bowel gas pattern.

TSH 289 T4 13.0 Free T4 0.3 T3 uptake 25 Thyroid US: Small lobes of thyroid gland with mildly heterogeneous echotexture and focal cysts within either lobe.

ACTH stimulation test: normal

diagnosis

PRIMARY HYPOTHYROIDISM

• Started on replacement therapy
• Extubated on day 3 with no further apneic episodes
• Most recent visit TSH 4.3

• A previously healthy 8-year-old girl with a lesion to the side of the face for 9 months.
• Was seen by pediatrician and given multiple courses of hydrocortisone and clotrimazole with poor response.
• Parents note that the lesion began as a small pink papule and grew in size. Increased itching to the area over the last 3 days.
• No other new or constitutional symptoms.

 seen by dermatologist

• Fungal culture obtained and sent.
• Discussed with family that it was a very slow growing test. • Prescribed topical ketoconazole
• Culture was negative and no response to ketoconazole
• Punch biopsy needed for confirmation, but Patient was very tearful during discussion of biopsy so recommend biopsy in OR
• later parents declined biopsy due to significant skin improvement

2 months later – presented to ER for decreased urine output and hematuria

• Blood pressure was 156/99
• Acute nephritis was diagnosed
• On examination multiple oral ulcers was there
• ANA was strongly positive

Diagnosed as SLE

Started steroids, continue Plaquenil and PPI

LAST FOLLOW UP

Seen in rheumatology and dermatology clinic and doing well

initial skin lesion was discoid lupus

CASE 1
4-year-old boy with Tuberous Sclerosis and an enlarging, newly enhancing cerebellar lesion

Findings

• Scattered cortical and subcortical foci of T2 signal prolongation within both cerebral hemispheres consistent with tubers.
• Nodular, circumscribed lesions, dark on T2WIs along the margin of the lateral ventricles, consistent with calcified subependymal glial nodules
• Right cerebellar wedge-shaped lesion, increased in size and showing new striated enhancement

DDX

• Cerebellar Tuber
• Lhermitte Duclos (dysplastic cerebellar gangliocytoma)
• Juvenile Pilocytic Astrocytoma

Diagnosis
Cerebellar Tuber
in a Patient with Tuberous Sclerosis

Discussion

• Tuberous Sclerosis (TS) is a neurocutaneous disorder characterized by seizures, mental retardation and adenoma sebaceum
• 2/3 of TS cases are sporadic and 1/3 are inherited as an autosomal dominant condition
• TS is caused by mutations in the TSC1 or TSC2 tumor-suppressor genes that encode for hamartin and tuberin, respectively
• CNS imaging abnormalities include: cortical/subcortical tubers, white matter abnormalities (e.g. radial bands), subependymal glial nodules, subependymal giant cell astrocytoma’s, parenchymal cysts, retinal phakomas and hyperostosis of the skull
• 1/3 of patients with TS may have a cerebellar tuber
• Cerebellar tubers are typically wedge-shaped in configuration
• Cerebellar tubers may show enhancement, typically in a “zebra- like” pattern, can calcify, show folia distortion and retraction abnormalities and may increase in size
• Cerebellar tubers should not occur in isolation or hemorrhage
• Why these cerebellar tubers enhance has not been elucidated
• It is important to recognize typical-appearing cerebellar tubers to avoid unnecessary surgery

Findings
• Near complete osseous atresia of the choana
– Thickened posterior vomer and posterior nasal walls -Fluid retained in both nasal cavities
• Hyper-segmented clivus
• Small vestibules (osseous labyrinth) with no semicircular canals
DDX
• Neonate with respiratory distress (obligate nasal breather)
-Piriform aperture stenosis (<11mm) -Mid-nasal stenosis
– Choanal atresia
– Encephalocele, Dermoid, Teratoma, nasal glioma – Dacryocystocele
Diagnosis
Bilateral choanal atresia in a child with CHARGE syndrome
Discussion
Choanal atresia: 80% membranous osseous, 20% osseous
Suction the nasal cavity and administer vasoconstrictors prior to scanning (did not occur in this patient)
Axial images are most helpful
Choanal atresia is commonly associated with other congenital anomalies-so look at the ears, skull base and eyes!!
• CHARGE syndrome is the most common association with choanal atresia
– Look for other abnormalities (commonly included in the examination of the CT face)
• Abnormal clavus
• Colobomas
• Small vestibules and absent semicircular canals
• Olfactory bulb agenesis (associated with pituitary dysfunction) seen on MRI

Findings
Fourth ventricular heterogeneously enhancing mass involving the right foramen of Luschka and right cerebellopontine angle cistern
• Stippled tumoral calcifications on CT
• Poorly defined tumor margins along the brainstem interface suggestive of invasion
• Obstructive hydrocephalus with transependymal edema and papilledema/flattening of the globes
Medulloblastoma
• Ependymoma
DDX
Pilocytic Astrocytoma
Diagnosis
Anaplastic Ependymoma (WHO grade III)

Discussion
Ependymomas are WHO grade or grade III (anaplastic) tumors.
Stippled tumoral calcifications are present in 50%.
CSF dissemination in up to 12%.
Lateral or dumbbell-shaped ependymomas are located within the 4 ventricle, foramen of Luschka, and CP angle and typically present with signs of increased ICP and cranial nerve dysfunction.
Treatment is maximal safe surgical resection followed by radiation (in some cases). Chemotherapy has yet to show efficacy.
Prognosis is determined by the child’s age at presentation, tumor histology and extent of surgical resection with a young age, higher tumor grade, lateral location, and subtotal resection showing a poorer prognosis

 

a) Henoch-Schönlein purpura (HSP)
b) Gut wall oedema and haemorrhage Acute intussusception Unrelated GI pathology Poorly localized hip pain
c) Arthropathy
Renal disease: nephritis, nephrotic syndrome, renal failure CNS disease: seizures, paresis, rarely coma
Testicular torsion
Peripheral desquamation
• Vasculitic condition often preceded by an upper respiratory tract infection.
• Most common non-thrombocytopenic purpura.
• Probably IgA Type III immune complex reaction. Serum IgA and complement levels may be elevated. Rheumatoid factor and antinuclear factor negative.
• Purpura may be preceded by urticaria. Lower limb extensor surfaces are most commonly affected.
• Arthritis/arthralgia is usually transient and non-migratory. • Renal involvement in 40-60%; renal failure ensues in 1%.
• Gross proteinuria is a poor prognostic indicator although moderate proteinuria and hematuria may persist for months.
• Treatment is symptomatic although steroids may ameliorate the abdominal pain.
• Schönlein described the triad of arthropathy, rash and Gl manifestations. Henoch associated the rash, arthropathy and nephritis.

This is a cranial ultrasound scan of a 28 week gestation infant performed at 5 weeks of age.
a) What is the diagnosis?
b) What is the likely prognosis of such an ultrasound appearance? c) This appearance was not detected on an earlier cranial scan performed on the second day of life. Why?

Answer to Question 1
a) Periventricular leucomalacia (PVL).
b) Guarded prognosis. Cerebral palsy may develop.
c) PVL results from progressive cavitation of early echodense lesions. Early scans may demonstrate signs of the causative insult but may be normal. PVL is rarely detected before 14 days of life by routine ultrasonography.
– PVL is a result of tissue necrosis following ischemia or infarction. PVL is usually multicyclic and these may coalesce.
– Changes in cerebral blood flow and perfusion have been implicated as aetiological factors. Hypovolemia, asphyxia and pneumo- thoraces are some of the factors combining with poor cerebral perfusion autoregulation causing this problem.
– Occipitoparietal or bilateral PVL carries a worse prognosis.
– PVL may result in cerebral palsy, microcephaly, audiovisual and intellectual deficits. Long term follow-up is mandatory, preferably based within a multidisciplinary child development center. Porencephaly is usually unicyclic and is often in direct communication with the ventricular system. Prognosis may be better.

This 2-year-old girl collapsed at home and subsequently developed
this rash.
a) Name this rash.
b) What is the most likely cause for this child’s collapse?
c) What is the prognosis?

Answer to Question 4
a) Purpura fulminans.
b) Meningococcal septicemia.
c) Poor prognosis. Regular assessment using the Glasgow Meningococcal Septicemia Score (GMSS) aids management and helps to predict prognosis.
– The rash of meningococcaemia may vary from macular to classic purpura; the latter may coalesce and become haemorrhagic. Subsequent sloughing leaves ulcers.
– Mortality approximates to 20-40%.
– The major processes involved in meningococcal septicemia are: increased vascular permeability leading to hypovolaemia; either vascular bed dilatation or vasoconstriction differing in various organs; intravascular thrombosis associated with clotting factor and platelet activation and consumption exacerbating tissue hypoxia and ischemia.
– Admission to intensive care facilities when the GMSS >8.
– Activation of cytokines (e.g. elevated TNF, reduced prostacyclin) results in clinical deterioration despite antibacterial and supportive care.
– Positive blood cultures in <50%
– Latex particle agglutination test is positive in 35-45%.
– Large volumes of colloids, inotropes and often ventilatory support are needed to maximize tissue perfusion and oxygenation.
– Prostacyclin may aid perfusion, oxygenation, fibrinolysis and inhibition of platelet activation. Antilipopolysaccharide endotoxin monoclonal antibodies may be beneficial.

These twins were born at a gestation of 37 weeks.
a) Explain the different appearance of these babies. b) What is the most important initial investigation? c) List three potential complications of this phenomenon.

a) Twin-twin transfusion
b) Spun haematocrit
c) Polycythaemic infant:
hyperbilirubinaemia
hypoglycaemia
hypocalcaemia
acidosis
hyperviscosity syndrome
thrombocytopenia
cardiac failure
Anaemic infant:
cardiac failure
hypo-albuminaemia poor growth
• Occurs in monozygous twins with shared placenta.
• Incidence 7% of twins.
• Chronic transfusion may cause stillbirth or birth weight discrepancy of 20%
• Blood viscosity increases exponentially when the haematocrit is >65%.
• Hyperviscosity syndrome includes: respiratory distress
• jitteriness and seizures necrotizing enterocolitis renal vein thrombosis cerebral thrombosis.
• Plasma dilutional exchange transfusion is indicated if the venous haematocrit >65% or if the child is symptomatic. Capillary haematocrits exceed venous or arterial measurements.
• Paradoxical bone mineralization has been reported; osteopenia in the polycythaemic infant and osteosclerosis in the other.

This teenage girl has acutely painful legs. She has recently suffered mild cold. Her only medication is mefenamic acid and the oral contra ceptive pill, both prescribed for her troublesome menorrhagia.
a) What is the diagnosis?
b) List six causes.
el What is the treatment?

a) Erythema nodosum (EN)
b) Infection:
streptococcal mycoplasmal
mycobacterial
enteric-salmonella, yersinia, etc. parasites
viral-EBV, varicella, herpes
Drugs:
sulphonamides, contraceptive
pill Inflammatory bowel disease
Sarcoidosis
SLE
c) Reassurance and analgesia. Severe and recurrent disease may be treated with both steroids and indomethacin.
– EN is rare below 6 years of age.
– Female preponderance.
– Lesions are red, indurated, shay, painful and symmetrical. Lesions fade as bruises but residual hyperpigmentation may persist. Pathology: immune complex mediated reactions in the sub- cutaneous tissues around large vessels producing nodules and plaques, predominantly over the tibial aspects.
– Relapsing cases may have IgG2 subclass deficiency.
– There have been notable sufferers-Mozart reputedly suffered from EN when 6 years old.

The above child has global developmental delay and is prone to unprovoked paroxysmal laughter.
a) What is the most likely diagnosis?
b) List three other associated features. el How is this condition inherited?

 

a) Angelman syndrome (“happy puppet”)
b) Seizures, jerky ataxia, brachycephaly, wide mouth and jaw promi-
nence
c) Genomic imprinting with uniparental disomy.
• Described by Angelman in 1965.
• No pathognomic features but many have blond hair and blue eyes. • 90% have seizures. The EEG is abnormal with a slow wave cycle of 4-6 per second.
70% have severe retardation, language deficits and microcephaly.
• CT brain scans may be normal or show mild cerebral atrophy. Gait is broad based.
• Genetic abnormality: 15q 11-13 (maternal deletion).
• Uniparental disomy occurs when both alleles are inherited from one parent. This may account for the differences between Angelman syndrome and Prader-Willi syndrome, both of which result from similar deletions but of chromosomes inherited from the other parent.

 

An Asian child is referred with hepatosplenomegaly. Moderate anaemia, thrombocytopenia, metamyelocytes and normoblasts were noted on blood film and marrow aspiration analysis. This is her chest radiograph.
a) What is the diagnosis?
b) What diagnostic clue was noted during the marrow aspiration? el List three complications of your diagnosis.

 

a) Osteopetrosis (marble bone or Albers-Schönberg disease)
b) ‘Dry-tap’ or difficult marrow aspiration
c) Blindness, hearing deficits, hydrocephalus, cranial nerve palsies, bone fractures, marrow failure and recurrent sepsis
• Inheritance: severe (autosomal recessive); benign (dominant). • Failure of osteoclast resorption with persistence of primary calcified cartilaginous matrix and defective bone remodelling resulting in osteosclerosis.
• Bony foramina fail to develop thus causing nerve palsies and hydro- cephalus.
• Spinal X-rays show a ‘rugby jersey’ pattern and long bones demon- strate ‘clubbed’ metaphyses.
• Hepatosplenomegaly, jaundice and failure to thrive occur.
• Treatment is largely supportive; steroids are not consistently of benefit. Bone marrow transplantation is potentially curative since the graft supplies new stem cell derived osteoclasts. There is a high incidence of graft rejection and results may be limited by previous neurological problems.

 

a) What is the diagnosis?
b) In which multisystem disorder may this physical sign occur?

 

a) Erythema marginatum
b) Acute rheumatic fever
• Erythema marginatum comprises erythematous rings with pale centres of normal skin. These frequently coalesce and may vary in conformation during the day.
• It only occasionally appears in acute rheumatic fever and is then considered to constitute a major criterion.
• Other major criteria include:
polyarthritis
carditis
subcutaneous nodules rheumatic chorea.

 

A 6-year-old girl with homozygous sickle cell disease presented wit fever and respiratory failure. This is her chest radiograph.
a) Give two possible diagnoses.
b) List three measures designed to prevent these diagnoses.

 

a) Right upper lobe pneumonia Sickle chest syndrome
b) Penicillin prophylaxis
Antipneumococcal vaccination
High transfusion policy to maintain low HbSS concentrations
• Sickle chest syndrome may present with acute breathlessness and pain. It may mimic pneumonia on the chest X-ray.
• Sickle chest syndrome comprises changes of sequestration, infarction and subsequent consolidation.
• Encapsulated organisms, e.g. pneumococcus and haemophilus, are common and the risk of sepsis is 600 times that of the unaffected population.
• Defective immunocompetence occurs due to defective opsonization and hyposplenism.
• neurological crises to reduce HbSS levels, reduce secondary sickling and aid oxygenation.
• Following such crises, high transfusion policies may have to be continued indefinitely to avoid recurrence.

 

This sick child exhibits a severe dermatological condition.
a) What is the diagnosis?
b) Give three potential complications.
c) Briefly outline your management.

a) Eczema herpeticum
b) Dissemination of herpes simplex
Encephalitis
Secondary bacterial infection
c) Parenteral and topical acyclovir
Broad spectrum, including antistaphylococcal, antibiotics
– Lesions may become haemorrhagic.
– Ocular complications may occur.
– Secondary sepsis is common.

 

a) Cellulitis resulting from a paronychial infection
b) Staphylococcus aureus
c) Omphalitis
Osteomyelitis Septicaemia
Pneumonia
Toxic epidermal necrolysis (Lyell or Ritter disease)
• Toxic epidermal necrolysis is potentially life-threatening due to exotoxin producing phage types (usually group II types 55 or 71).
• Skin friction causes epidermal shearing (Nikolsky sign).
• Parenteral antistaphylococcal antibiotics are required.

 

This girl is recovering from pneumococcal meningitis.
a) Describe the physical sign demonstrated.
b) List four potential complications of bacterial meningitis.
c) What prophylaxis should be offered to this child’s family?

 

a) Right third cranial nerve palsy: complete ptosis, divergent strabis mus with the eye ‘down and out’ and pupillary dilatation (not
shown).
b) Seizures (acute or chronic)
Cranial nerve palsies Deafness
Cerebral infarction, abscess or cerebral palsy
Ophthalmitis
Hydrocephalus (usually communicating) Subdural effusion
Syndrome of inappropriate ADH secretion
Adrenal haemorrhage (Waterhouse-Friedreichsen syndrome) Endocarditis
e) None. Prophylaxis required for haemophilus and meningococcal meningitis.
• Pneumococcal meningitis is a serious and notifiable disease. Mortality reaches 15% with major neurological sequelae in 25% of survivors.
• There may be a pre-existing focus of infection. Bacteraemia is almost invariable.
• Blood cultures are usually positive. Latex agglutination test is positive in 50-75% of cases.
• Treatment is traditionally continued for 10 days.
• Dexamethasone may reduce mortality and long term morbidity. particularly deafness, in pneumococcal meningitis. Reduction in deafness but not mortality has been suggested in those with haemophilus meningitis. The greatest benefit may be seen if the dexamethasone is given before or at the time of antibiotic administration.
• Endocarditis is a rare, and often fatal, complication. Normal valves may be affected.

 

A teenage boy with homozygous sickle cell disease presented with breathlessness, tachycardia, hepatomegaly and a long systolic murmur. He had received multiple blood transfusions in the past. This is his chest radiograph.
a) What is the most significant radiological feature?
b) What is the most likely diagnosis? Give two possible causes.
c) List two helpful investigations to confirm your diagnosis.

 

a) Cardiomegaly
b) Cardiac failure
Possible aetiologies:
haemosiderotic cadiomyopathy
endocarditis due to immunosuppression myocarditis
c) Echocardiography
ECG
Cardiac radionuclide scans
Ferritin and iron store studies
Septic screen
– Repeated transfusions may result in iron overload leading to cardiomyopathy and arrhythmias (particularly supraventricular arrhythmias).
– Haemosiderosis is prevented by the avoidance of repeated transfu- sions and the use of desferrioxamine chelation if such therapy is unavoidable.
– Transfusions may be given for aplastic crises but there is little evidence of amelioration of acute painful crises. Exchange transfu- sions are preferable when HbSS levels need reduction pre-opera- tively or following neurological and respiratory crises.
– Features of iron overload include: poor growth, delayed puberty, hypoparathyroidism, adrenal insufficiency, hepatosplenomegaly, arthropathy and late diabetes mellitus.
– Desferrioxamine therapy predisposes to yersinia infection. Repeated transfusions increases the risk of hepatitis C infection which is associated with a moderate mortality and high risk of chronic liver disease.

 

This infant has a humeral fracture.
al What is the underlying diagnosis?
b) What is the aetiology of this diagnosis?
c) What may be seen on the skull radiograph?

 

 

a) Osteogenesis imperfecta
b) Heterogeneous group of disorders of Type I collagen synthesis
c) Wormian bones (often occipital)
Previous fractures
• Variable inheritance 1:10 000-50 000; 80% of cases are Type I.
• Severity of the disease tends to be similar within one family.
• Inheritance: dominant in I and IV; recessive (usually) in II and III.
• Type II is often lethal in the perinatal period. Bones are short, broad and deformed.
• Blue sclerae with premature arcus may be absent in Types III and IV.
• Dentinogenesis imperfecta with translucent teeth is associated.
• Deafness (>50% by 50 years) is common. Otosclerosis is also com- monly detected.
• Other evidence of collagen disease includes: joint hypermobility, tendon rupture and aortic valve regurgitation.
• Diaphyseal fractures are more common than metaphyseal lesions.
• Genetic abnormalities on chromosomes 7 and 17. The defect seems to be overhydroxylation of alpha 1 (1) chain collagen.
• Antenatal diagnosis is available; mild disease may be detected in asymptomatic family members by the presence of Wormian bones on plain skull radiographs.

 

This picture was obtained at a routine 6 week infant examination.
a) What is demonstrated?
b) What investigations would you perform? What is the management?

 

a) Mongolian blue spot
b) None. Reassure the parents
• Histologically, these are dermal melanocytic naevi.
• Their classic site is over the sacrum.
• Whilst some may persist, most fade between the ages of 4 and 7 years.
• There is a higher frequency in the Asian population. They occur in 10% of white children.

 

a) What is the diagnosis?
b) List three potential causative organisms.
e) List four recognized complications of your diagnosis.

 

 

a) Right middle lobe pulmonary abscess
b) Pneumococcus Staphylococcus
Haemophilus influenzae Klebsiella pneumoniae Mycobacterium tuberculosis Mycotic infections
Entamoeba histolytica Anaerobes
Legionella
c) Bronchiectasis
Bronchial stenosis
Haemorrhage
Bronchopleural fistula and empyema Secondary sepsis including cerebral abscess Mediastinitis
Osteo-arthropathy
Right lung is more commonly affected. Predisposing factors include aspiration of foreign bodies, cysts, poor oral hygiene and immuno- suppression.
Haemoptysis is common. Micro-abscesses are more common in cystic fibrosis than large abscesses. Clubbing may develop. Failure of resolution indicates the need for bronchoscopy. Recur- rence may be due to ciliary dyskinesia or Kartagener syndrome. Residual defects, not detected on plain X-ray, may be seen on ventilation/perfusion isotope scanning.

a) What abnormality is illustrated?
b) What is the cause of the abnormality?
c) List three possible complications encountered as a result of this diagnosis

 

 

a) Abnormal head shape-craniosynostosis. Scaphocephaly in this
case.
b) Premature fusion of the skull sutures. The sagittal sutures are affected in scaphocephaly.
c) Increased intracranial pressure (rare in scaphocephaly)
Exophthalmos Cranial nerve palsies
Strabismus
Deafness
Cosmetic concerns.
Craniosynostosis may be an isolated problem or part of a syndrome, e.g. Apert.
It is an acquired defect in hypophosphatasia and severe rickets. Achondroplasia may mimic scaphocephaly due to an imbalance of endochondral and membranous ossification, particularly in the basal bones, giving rise to the characteristic head shape seen in this condition.
Overtreated congenital hypothyroidism has been associated with premature suture fusion.
The management of craniosynostosis requires a multidisciplinary team approach.

 

a) What dysmorphic feature is demonstrated?
b) Give two clinical diagnoses.
c) List three associated abnormalities of your diagnosis.

 

 

a) Rockerbottom feet

b) Patau syndrome (trisomy 13)

Edward syndrome (trisomy 18) (see Question 23)

c) Cleft lip +/- cleft palate
Coloboma
Cataracts
Microphthalmia
Broad nose
Low set ears
Scalp defects
Post-axial polydactyly
Cardiac and renal defects
Patau syndrome incidence 1:8000.
Described in 1960

 

60% have renal defects.
There is a wide range of cerebral malformations. Risk increases with increasing maternal age.

 

a) What dysmorphic feature is demonstrated?

b) Give two associated diagnoses.

 

a) Low set ears
b) Potter syndrome Patau syndrome Edward syndrome Turner syndrome
Potter syndrome: renal agenesis, pulmonary hypoplasia and limb
contractures.
Antenatal clue to diagnosis is the presence of oligohydramnios. Low set ears are seen in up to 80% of those with Turner syndrome.

This infant became acutely unwell several days after exposure to the sun. She was collapsed, hypotensive with profuse diarrhoea and peripheral desquamation. This picture, taken during convalescence, shows the last remnants of the underlying, preceding problem.
al What was the underlying problem?
b) What was the cause of the subsequent collapse?
c) List the relevant criteria for the establishment of the diagnosis.

 

a) Impetiginous infection of sunburn (photo-erythema) as shown in the picture
b) Staphylococcal toxic shock syndrome (TTS)
c) Fever of at least 38.9°C
Macular erythema-patchy or generalized leading to patchy desquamation
Hypotension
Toxic action on at least three systems including:
Diarrhoea or vomiting
Myalgia or raised creatine kinase activity
Reddened conjunctivae, oropharynx or vagina Elevated creatinine or urea
Thrombocytopenia
Confusion/drowsiness without focal neurological signs
Initially associated with menstruation and tampon use in USA. May result from toxins from trivial staphylococcal infection or coloniza- tion. 13% of cases are non-menstrual associated.
Toxic shock syndrome toxin-1 (TSST-1) is a 22 kDa protein which may be detected in vitro and in vivo and is involved in the triggering of a cytokine cascade. This probably results from T cell activation following binding of the toxin to class II major histocompatibility complex receptors.
Intensive care is required. Studies with antitoxin are in progress. Antistaphylococcal and inotropic drugs are used.
Mortality approximates to 3-10%.
Group A beta haemolytic streptococci (GABHS) cause a similar clinical picture but do not arise from colonization or trivial sepsis, rather requiring serious infection with bacteraemia.

This Asian infant presented at 6 weeks of age with the above abnormality. Examination revealed palpable axillary lymph nodes.
al What is the diagnosis?
b) Give two other complications.

 

a) Incorrect BCG vaccination causing an abscess

b) Ulceration Keloid formation
Suppurative lymphadenitis Anaphylaxis
Dissemination of organisms Lupoid type of local lesion
• BCG vaccination was first introduced in 1921.
• Protection rates are quoted up to 80%. About 90% of vaccines are tuberculin positive at 4-5 years of age after neonatal vaccination.

• Neonatal vaccination seems to offer better protection against tuber- culous meningitis and other disseminated forms than pulmonary disease.
Administration must be intradermal. Subcutaneous injection may be responsible for ulcers and abscess formation. Lymphadenitis is
common.
• Groups for whom neonatal vaccination is advised are: Asian babies or those of other immigrant families with a high infection rate; infants travelling in high risk areas; those in contact with active respiratory disease and those born into families with a history of TB within the last 5 years. HIV testing prior to neonatal vaccination is not required.

A teenage boy with homozygous sickle cell disease presented with breathlessness, tachycardia, hepatomegaly and a long systolic murmur. He had received multiple blood transfusions in the past. This is his chest radiograph.
a) What is the most significant radiological feature?
b) What is the most likely diagnosis? Give two possible causes. c) List two helpful investigations to confirm your diagnosis.

 

 

a) Cardiomegaly
b) Cardiac failure
Possible aetiologies: haemosiderotic cadiomyopathy endocarditis due to immunosuppression myocarditis
c) Echocardiography
ECG
Cardiac radionuclide scans Ferritin and iron store studies Septic screen
Repeated transfusions may result in iron overload leading to cardiomyopathy and arrhythmias (particularly supraventricular arrhythmias).
Hemosiderosis is prevented by the avoidance of repeated transfusions and the use of deferoxamine chelation if such therapy is unavoidable.
Transfusions may be given for aplastic crises but there is little evidence of amelioration of acute painful crises. Exchange transfusions are preferable when HbSS levels need reduction pre-opera- tively or following neurological and respiratory crises.
Features of iron overload include: poor growth, delayed puberty, hypoparathyroidism, adrenal insufficiency, hepatosplenomegaly, arthropathy and late diabetes mellitus.
Deferoxamine therapy predisposes to Yersinia infection. Re- peated transfusions increases the risk of hepatitis C infection which is associated with a moderate mortality and high risk of chronic liver disease.