Pediatrics: UWorld Flashcards
What is the most common cause of hip pain in children?
Transient synovitis
This is treated with rest and ibuprofen.
What is the most common cause of ambylopia (lazy eye)?
Strabismus
Other causes include errors of refraction and opacity of media along the visual axis.
What should be suspected when a well-appearing neonate presents with painless bloody stools?
Milk- or soy-protein proctocolitis
Rectal bleeding should stop within 2 weeks of elimination of dietary dairy and soy products.
What is the most appropriate antibiotic therapy for bacterial meningitis in an infant < 28 days old?
Ampicillin + Gentamicin
or
Ampicillin + Cefotaxime
The most common causes of bacterial meningitis would be Escherichia coli, group B streptococcus, and Listeria monocytogenes. This antibiotic regimen would not provide appropriate bacterial coverage for an infant age > 28 days.
When does colic typically present and when does it resolve?
- Presents within first 3 weeks of life
- Resolves by 4 months of age
What diagnosis should be suspected in children who develop isolated thrombocytopenia after a viral infection?
Immune thrombocytopenia
This is a relatively benign condition. There is some controversy regarding the treatment, but in general, corticosteroids are the drugs of choice in all age groups for thrombocytopenia less than 30,000/mm3, and/or for severe symptoms. Patients with a platelet count of more than 30,000/mm3 usually have very few symptoms and do not require treatment.
What has been shown to reduce the morbidity and mortality rates of patients with measles through immune enhancement?
Vitamin A
It also helps the gastrointestinal and respiratory epithelium to regenerate.
What is the most common cause of urinary tract obstruction in newborn boys?
Posterior urethral valves
Classic findings on prenatal ultrasound include bladder distension, bilateral hydroureters, and bilateral hydronephrosis.
New onset hypertension in a child with a bruit or venous hum heard at the costovertebral angle are suggestive of what diagnosis?
Fibromuscular dysplasia
The most common cause of secondary hypertension in children is fibromuscular dysplasia. It is responsible for approximately 20% of all cases of renal hypertension. Physical examination reveals a hum or bruit in the costovertebral angle due to well-developed collaterals. The right renal artery is more affected than the left. Angiogram will reveal the “string of beads” sign to the renal artery.
Which cyantotic congenital heart defect is characterized by left axis deviation on electrocardiogram and decreased pulmonary markings on chest radiograph?
Tricuspid valve atresia
The decreased pulmonary markings on chest radiograph are due to hypoplasia of the right ventricle and pulmonary outflow tract.
What diagnosis fits the following description?
This is the most common benign vascular proliferation in adults, and appears as a small, bright red, cutaneous papule that appears in patients during adulthood.
Cherry hemangioma
This consists of dilated capillaries and post-capillary venules in the papillary dermis and do not regress spontaneously.
The following findings are suggestive of what diagnosis?
- Hypoplastic fingers/nails
- Cleft lip/palate
Fetal hydantoin syndrome
Pregnant women on phenytoin during their last trimester often receive prophylactic vitamin K to prevent neonatal bleeding as phenytoin may increase the rate of fetal vitamin K degradation.
What presents a few hours after birth as scalp swelling limited to one cranial bone?
Cephalohematoma
This is a subperiosteal hemorrhage. Most cases do not require any treatment and resorb spontaneously within 2 weeks to 3 months, depending on the size.
The following findings on electrophoresis are consistent with what diagnosis?
- Hemoglobin A: 50-60%
- Hemoglobin S: 35-45%
- Hemoglobin F:
Sickle Cell Trait
Most patients with sickle cell trait lead normal, healthy lives. Painless hematuria (resulting from sickling in the renal medulla) is the most common complication. Isosthenuria (impairment in concentrating ability) is also common and can present as nocturia and polyuria. Less commonly, there may be an increased risk of urinary tract infections, particularly during pregnancy. Splenic infarctions are uncommon but can occur at high altitudes.
What is the inheritance pattern of Marfan Syndrome?
Autosomal Dominant
It results from mutations of the fibrillin-1 (FBN1) gene.
The diagnosis of laryngomalacia is confirmed by what means?
Flexible laryngoscopy
This shows collapse of the supraglottic structures during inspiration. Laryngomalacia usually peaks at age 4-8 months, and then self-resolves by age 18 months.
Where do 90% of Medulloblastomas occur in children?
The vermis (cerebellum)
The following signs/symptoms are characteristic of what diagnosis?
- Diarrhea
- Dermatitis
- Dementia
Pellagra (Niacin deficiency)
- Patients with pellagra typically present with gastrointestinal complaints (nausea, abdominal pain, or epigastric discomfort) along with glossitis and watery diarrhea. The characteristic dermatitis seen in pellagra occurs in sun exposed areas and resembles a sunburn; it is also typically bilateral and symmetric. As the rash progresses, the skin becomes hyperpigmented and thickened. Mental status changes can range from poor concentration to irritability, aggressiveness, and dementia. Death can occur in severe niacin deficiency if not treated with niacin replacement.*
- Niacin = vitamin B3*
What is the treatment of choice for the initial therapy of absence seizures?
Ethosuximide or Valproic acid
Ethosuximide affects the thalamic neurons by working against calcium currents. The possible side effects are drowsiness, nausea, vomiting, hyperactivity or sleep disturbance. Ethosuximide is not useful for the treatment of generalized tonic-clonic and partial epilepsy.
The following findings are consistent with what diagnosis?
- Sore throat
- Hyperemic and edematous oropharyngeal mucous membranes
- Cheilitis
- Stomatitis
- Glossitis
- Normocytic-normochromic anemia
- Seborrheic dermatitis
- Photophobia
Riboflavin (Vitamin B2) deficiency
This is rare in industrialized nations, but has been documented in regions of the world with severe food shortages.
What is a contraindication to administration of the rotavirus vaccine?
Infants with a history of intussusception
These infants should not recieve the vaccine, as it is associated with a small risk of intussusception.
Sudden vasomotor collapse and skin rash due to adrenal hemorrhage in a patient with meningococcemia is characteristic of what condition?
Waterhouse-Friderichsen syndrome
The condition carries an almost 100% mortality.
What usually presents with bilious vomiting a few hours after the first newborn feeding?
Duodenal atresia
It is usually associated with other congenital anomalies, and can be a feature of Down’s syndrome.
What uncommon complication of acute otitis media is characterized by serous liquid-filled blisters on the tympanic membrane?
Bullous myringitis
What viral infection in children is mild and characterized by low-grade fever, tender lymphadenopathy, and a maculopapular rash that spreads cephalocaudally?
Rubella
Vaccination is important to prevent infection of vulnerable pregnant women due to the risk of debilitating congenital rubella syndrome.
What is the treatment of phenylketonuria?
A low phenylalanine diet
Small amounts of phenylalanine are still necessary for growth and development. High-protein foods should be avoided. Early diagnosis and treatment can improve the prognosis, with most (treated) patients having normal mental development and a normal life span.
What is the treatment for Kawasaki disease?
Aspirin and intravenous immunoglobulin
Although Kawasaki disease is self-limited, treatment with aspirin and intravenous immunoglobulin should be started within 10 days of fever onset to prevent cardiac complications. A baseline echocardiography should be performed in all patients with suspected Kawasaki disease and repeated 6-8 weeks later to monitor for any changes.
What is the inheritance pattern of phenylketonuria?
Autosomal recessive
The pathology involves a deficiency in phenylalanine hydroxylase, the enzyme that breaks down phenylalanine into tyrosine. This deficiency leads to the accumulation of phenylalanine and its metabolic products in the blood and body tissues (particularly in the brain).
A mutation in the fibrillin-1 (FBN1) gene is the cause of what condition?
Marfan syndrome
This is an autosomal dominant disorder.
Premature adrenarche is characterized by the isolated appearance of axillary hair before the age of 6 years and results from what?
Premature androgen secretion of the adrenal glands
The condition is generally benign and has no clinical significance. Premature pubarche (pubic hair before the age of 8) on the other hand is more alarming, as it is associated in 50% of cases with a CNS disorder.
What distinguishes otitis media with effusion from acute otitis media?
Otitis media with effusion lacks acute inflammatory signs
These signs include fever, bulging of the tympanic membrane, and erythema of the tympanic membrane.
What 6 maternal factors are a contraindication to breastfeeding?
- Active untreated tuberculosis (mothers may breastfeed after 2 weeks of antituberculin therapy)
- HIV infection (in developed countries where formula is readily available)
- Active abuse of street drugs or alcohol
- Herpetic breast lesions
- Varicella infection (between 5 days prior to delivery to 2 days after delivery)
- Certain medications (including chemotherapy)
In a newborn, an absent moro reflex in the setting of intact biceps and grasp reflexes is indicative of what diagnosis?
Clavicle fracture
Absent moro, biceps, and grasp reflexes would raise concern for C5-C7 damage (eg Erb-Duchenne paralysis). An absent moro reflex in the setting of preserved biceps and grasp reflexes make nerve injury unlikely. Physical exam will most likely reveal crepitus and irregularity in the region of the clavicle.
What disease classically presents as a young boy with eczema, thrombocytopenia, and recurrent infections with encapsulated germs?
Wiskott-Aldrich Syndrome (WAS)
This is an X-linked recessive disease caused by a defective gene encoding for Wiskott-Aldrich syndrome protein (WASP). The initial manifestations often present at birth and consist of petechiae, bruises, bleeding from circumcision, or bloody stools. Immunologic findings include low IgM levels, high IgA and IgE levels, poor antibody responses to polysaccharide antigens, and moderately reduced number of T cells and platelets.
The following findings are characteristic of what diagnosis?
- Anemia
- Short stature
- Webbed neck
- Cleft lip
- Shielded chest
- Triphalangeal thumbs
Diamond-Blackfan anemia
The primary pathology is an intrinsic defect of erythroid progenitor cells which results in increased apoptosis. 90% of cases are diagnosed within the first year of life, with the average age of diagnosis being 3 months.
What type of hypersensitivity results from IgG or IgM specifically reacting to cell-bound antigens, and then activating complement resulting in cell damage?
Antibody-mediated (type II) hypersensitivity
Examples of these types of reactions are immune hemolytic anemia and Rh hemolytic disease in the newborn.
What is the second most common primary bone malignancy?
Ewing sarcoma
The incidence is highest in adolescent males and up to 20% of patients may have systemic symptoms. X-ray shows an osteolytic lesion with periosteal reaction that produces layers of reactive bone, giving the classic “onion skin” appearance.
What is the treatment for whooping cough (bordetella pertussis infection)?
Macrolide antibiotics
This includes azithromycin, clarithromycin etc. Antibiotics are most effective during the catarrhal (1st) phase and less effective in the paroxysmal (2nd) and convalescent (3rd) phases. The first (catarrhal) phase includes nonspecific symptoms (malaise, mild fever, cough, rhinorrhea) and lasts 1-2 weeks. The 2nd (paroxysmal) phase occurs next and usually presents with severe paroxysms of coughing spells that can lead to post-tussive emesis. The 3rd (convalescent) phase typically presents with gradually decreasing frequency and severity of cough. The total duration of all 3 phases is usually about 3 months if untreated.
Recurrent self-limiting episodes of vomiting and nausea in a child in the absence of any apparent cause is suggestive of what diagnosis?
Cyclical vomiting
The etiology of this condition is unclear, however, its incidence is high in children whose parents have a history of migraine headaches. Treatment consists of anti-emetics and reassurance of the parents.
What type of hypersensitivity results from the formation of complexes between antigens and IgG or IgM that nonspecifically activate the complement cascade and other inflammatory processes?
Immune complex-mediated (Type III) hypersensitivity
Examples of this reaction are serum sickness and the Arthus reaction.
What life-threatening syndrome presents with recurrent bacterial, viral, and fungal infections, absent lymph nodes and tonsils, lymphopenia, and an absent thymic shadow?
Sever combined immune deficiency
The patient will also have abnormal T, B, and natural killer cell enumeration by flow cytometric analysis.
What kind of seizure has the following characteristics?
- Loss of consciousness
- Can have aura
- Motor automatisms (I.E. chewing, swallowing, sucking)
- Sometimes have bilateral motor findings
Complex partial seizures
What is the most common complication of a supracondylar humerus fracture?
Entrapment of the brachial artery
This will result in loss of the radial artery pulse. After reduction of the fracture, the radial pulse must be assessed.
What is the treatment for Guillain-Barre syndrome?
Plasmapheresis or human immunoglobulin
Recovery follows the inverse order of the initial progression of the disease.
Traction apophysitis of the tibial tubercle is known as what?
Osgood-Schlatter disease
Radiographic findings include anterior soft tissue swelling, lifting of tubercle from the shaft, and irregularity or fragmentation of the tubercle.
New-onset hearing loss or chronic ear drainage despite antibiotic therapy are typical childhood presenting symptoms of what condition?
Cholesteatoma
Cholesteatomas in children can either be congenital or acquired secondary to chronic middle ear disease. Granulation tissue and skin debris may be seen within retraction pockets of the tympanic membrane on otoscopy.
What diagnosis should be suspected in a child who presents with an ascending polyneuropathy one week after an apparent viral infection?
Guillain-Barre syndrome
The underlying pathology involves mainly the peripheral motor nerves, although sensory and autonomic nerves may also be affected.
What kind of seizure has the following characteristics?
- No loss of consciousness
- Feeling of familiarity (deja-vu)
- Can have aura
- Patient may remember event well
Simple partial seizure
What is the most common cause of secondary hypertension in children?
Fibromuscular dysplasia
It is responsible for approximately 20% of all cases of renal hypertension.
The United States Preventive Services Task Force (USPSTF) recommends vision screening for children aged 0-5 years, primarily to identify what 3 abnormalities?
- Strabismus
- Ambylopia
- Refractive errors
Early diagnosis and treatment are being emphasized, because poor visual acuity resulting from the above conditions may impair a child’s future academic performance and self-image, and may even lead to blindness.
What finding is diagnostic of neurofibromatosis type 2?
Bilateral acoustic neuromas
What classically presents as postprandial nonbilious emesis at ages 3-6 weeks?
Pyloric stenosis
What presents with intermittent episodes of severe abdominal pain and is the most common cause of intestinal obstruction in children age 6-36 months?
Intussusception
Pappenheimer bodies are iron-containing inclusion bodies found in peripheral red blood cells. They result from phagosomes that engulf excessive amounts of iron and are typically seen in what condition?
Sideroblastic anemia
What is the most common cause of pediatric myocarditis?
A viral illness (especially Coxsackievirus B and adenovirus)
The pathogenesis is thought to be direct viral injury and autoimmune inflammation that leads to myocyte necrosis with subsequent impairment of systolic and diastolic function.
The following signs/symptoms are characteristic of what diagnosis?
- Sensorineural deafness
- Developmental delay
- Cataracts
- Hepatosplenomegaly
- Purpura
Congenital rubella syndrome
What disorder is characterized as an autosomal recessive disorder that involves degeneration of the anterior horn cells and cranial nerve motor nuclei?
Werdnig-Hoffman syndrome
It is a cause of “floppy baby” syndrome (the other cause is infant botulism).
What diagnosis fits the following description?
A benign vascular tumor of childhood that appears during the first few weeks of life, initially growing rapidly, and typically regressing by 5-8 years of age.
Strawberry hemangioma
This tumor is composed of capillaries separated by connective tissue.
The following signs/symptoms are characteristic of what diagnosis?
- Barky cough
- Fever
- Rhinorrhea
- Congestion
Croup (laryngotracheobronchitis)
This is the most common cause of inspiratory stridor in children age 6 months to 3 years. It is most often caused by the parainfluenza virus. It responds to treatment with racemic epinephrine and corticosteroids.
What is the recommended first-line treatment for pertussis?
Macrolide antibiotics for 14 days
Erythromycin, azithromycin, or clarithromycin.
The following signs/symptoms are characteristic of what diagnosis?
- Mental retardation
- Blindness
- Deafness
- Paralysis
- Peripheral motor sensory neuropathy
- Seizures
Krabbe’s disease
This is a sphingolipidosis due to a deficiency in beta-galactosidase, which results in a total absence of myelin.
What condition is characterized by defective intracellular killing due to impaired respiratory burst from activated phagocytes?
Chronic granulomatous disease
In this condition, the classic nitroblue tetrazolium test is negative (abnormal). The dihydrorhodamine 123 test is more sensitive and can quantify the severity of illness.
What condition is characterized as an inflammatory, demyelinating condition that causes acute vision loss and pupillary defects?
Optic neuritis
It most commonly affects 1 eye and is associated with multiple sclerosis.
The following findings in a child are consistent with what diagnosis?
- Fever
- Dysphagia
- Drooling
- Inability to extend neck
- Muffled voice
- Trismus (inability to open the mouth completely)
Retropharyngeal abscess
On a normal lateral neck x-ray, the prevertebral soft-tissue space should be narrower than the vertebral bodies. A lateral x-ray showing a widened prevertebral space is suggestive of a retropharyngeal abscess. Due to the proximity of the airway, spine, and major vascular structures, infections in this region are potentially life-threatening. In patients with no signs of respiratory compromise, a computed tomography scan with contrast should be performed to confirm the presence and size of the abscess. The abscess is usually polymicrobial, involving streptococcus pyogenes, staphylococcus aureus, and anaerobes. It occurs most commonly in children age 6 months to 6 years. There is a decreased incidence after age 6 years.
What artery can be compromised by a supracondylar humerus fracture?
The brachial artery
The radial artery pulse must be assessed when the fracture is reduced.
What kind of seizure has the following characteristics?
- Can have loss of consciousness
- Bilateral motor findings
- Can be convulsive or non-convulsive
Generalized seizure
The following findings are suggestive of what diagnosis?
- Craniofacial anomalies (I.E. cleft palate)
- Thymic hypoplasia
- Congenital heart disease
DiGeorge syndrome
Newborns with DiGeorge syndrome must be assessed immediately for potentially life-threatening hypocalcemia.
What usually presents in a child less than one month of age as bilious vomiting, abdominal distension, and passage of bloodstained stools?
Midgut volvulus
Volvulus is associated with malrotation of the gut, and can be complicated by perforation and peritonitis.
The following findings are suggestive of what diagnosis?
- Flat facial profile
- Slanted palpebral fissures
- Small, low-set ears
- Excessive skin at nape of the neck
- Clinodactyly (bend or curvature of 5th fingers towards 4th fingers)
- Larger space between the first two toes
Down Syndrome
The following signs/symptoms are characteristic of what diagnosis?
- Ataxia
- Dysarthria
- Scoliosis
- Foot deformities
- Concentric hypertrophic cardiomyopathy
Friedreich ataxia
This is an autosomal recessive disorder, and its symptoms usually begin before 22 years of age. It presents with neurologic, skeletal, and cardiac manifestations.
What presents with decreased serum concentrations of IgG, IgA, IgM, and IgE, but no absence or decrease in the number of circulating B cells?
Common variable immunodeficiency (CVID)
What condition is characterized as an autosomal recessive condition characterized by an excessive number of trinucleotide repeat sequences, resulting in an abnormality of a tocoperol transfer protein?
Friedreich Ataxia
This disorder is progressive with poor prognosis. Most patients are wheelchair bound by the age of 25, with death occurring by 30-35 years of age.
What is the treatment of choice for severe tricyclic antidepressant intoxication?
Sodium bicarbonate
This drug not only helps to correct the acidosis, but also helps to narrow the QRS complex prolongation. A benzodiazepine is given when the patient presents with seizures that require treatment.
Bilious vomiting in the first 2 days of life and a “double bubble” sign on abdominal x-ray are strongly suggestive of what diagnosis?
Duodenal atresia
X-ray shows air trapped in the stomach and the first portion of the duodenum (double-bubble sign) and no distal intestinal gas. Management includes holding enteral feeds, decompression with a naso or oro-gastric tube and surgical repair.
Enuresis, polyuria, and diaper candidiasis in a 4-6 year old is suggestive of what diagnosis?
Type I diabetes mellitus
A large thymic silhouette is a normal finding on frontal chest x-ray in children of what age?
< 3 years old
Opacities in this location in other children should raise concern for pneumonia or malignancy, depending on the clinical context.
Neonatal jaundice with conjugated hyperbilirubinemia is suggestive of what?
Neonatal cholestasis
What should be suspected in a patient who presents at birth with equinus and varus of the calcaneum and talus, varus of the midfoot, and adduction of the forefoot?
Clubfoot
Treatment of clubfoot with serial casting should be started immediately.
The following signs/symptoms are characteristic of what diagnosis?
- Tingling or pins-and-needles of the foot
- Ascending weakness (from lower extremities, to the trunk, to the upper extremities)
- GI symptoms, compromised respiration and swallowing, autonomic abnormalities such as dynamic blood pressures/heart rate may be present
- The final stage may include flaccid paralysis with decreased deep tendon reflexes and nerve conduction velocities indicating demyelinization
Guillain-Barre syndrome
Cerebrospinal fluid analysis reveals significantly elevated protein levels and mildly elevated cells (albumino-cytologic dissociation). The treatment is plasmapheresis or human immunoglobulin. Recovery follows the inverse order of the initial progression of the disease.
Linear deposition of immunoglobulin G on the basement membrane is seen in what disease?
Goodpasture’s syndrome
This is caused by antibodies directed against the basement membrane. It typically present with pulmonary hemorrhage and glomerulonephritis.
What is the treatment for chlamydial conjunctivitis or chlamydial pneumonia in a neonate?
14-day course of erythromycin
This is true despite the risk of hypertrophic pyloric stenosis with oral erythromycin.
The following findings are consistent with what diagnosis?
- Paroxysmal cough (lasting >2 weeks)
- Inspiratory whoop
- Post-tussive emesis
Bordetella pertussis
During the first 4 weeks of illness, the diagnosis is confirmed by cultures and/or polymerase chain reaction of nasopharyngeal secretions. Serology is required in patients with >4 weeks of symptoms. Treatment with macrolide antibiotics should be initiated based on clinical suspicion without waiting for the confirmatory diagnosis.
Port-wine stains are most closely associated with what?
Sturge-Weber syndrome
Heterophile antibody testing is used to diagnose what?
Infectious mononucleosis due to Epstein-Barr virus
What presents as microcytic anemia with target cells and teardrop cells on peripheral smear?
Thalassemia trait (thalassemia minor)
The red cell distribution width, total iron-binding capacity, serum iron, and ferriting levels are typically normal. Treatment is not usually needed for mild to moderate anemia.
What disorder is caused by an increased number of CGG repeats?
Fragile X syndrome
This syndrome results from a full mutation in the FMR1 gene caused by an increased number of CGG trinucleotide repeats accompanied by aberrant methylation of the FMR1 gene.
The following characteristics are consistent with what developmental age?
- Gross motor: Runs, kicks ball
- Fine motor: Builds tower of 2-4 cubes, removes clothing
- Language: 10-25 word vocabulary, identifies _>_1 body part
- Social/Cognitive: Understands “mine”, begins pretend play
18 months
An erythematous, scaly, pruritic rash with central clearing is characteristic of what?
Ringworm (tinea corporis)
This is a superficial fungal infection best treated with topical antifungals such as terbinafine.
The following findings are characteristic of what diagnosis?
- Recurrent bacterial infections of the skin and mucosal surfaces
- Necrotic periodontal infections
- Leukocytosis with neutrophil predominance
Leukocyte adhesion defect type 1
These patients also suffer from delayed separation of the umbilical cord, and they have a complete absence of neutrophils in inflamed or infected tissues. This syndrome is caused by deficient expression of CD18, an essential component of certain integrins present on the surface of leukocytes.
Extreme pain, bleeding in the middle ear space, and purple or red hue to the eardrum are characteristics of what?
Hemotympanum (barotrauma or blunt trauma to the ear)
What presents in an infant as cyanosis and respiratory distress during feeding that improves when the infant cries?
Bilateral choanal atresia
Allergic contact dermatitis is due to what type of hypersensitivity reaction?
Delayed (type IV) hypersensitivity reaction
Erythema, edema, pruritus, tiny vesicles and weepy or crusted lesions 24-48 hours after contact with the allergen.
What is the most common cause of congenital hypothyroidism worldwide?
Iodine deficiency endemic goiter
This is essentially not seen in the United States.
A neonate with what diagnosis is at increased risk of the following complications?
- Hypoxia
- Polycythemia
- Hypoglycemia
- Hypothermia
- Hypocalcemia
Small for destational age
The polycythemia results from increased erythropoietin secretion in response to fetal hypoxia. Hypocalcemia is thought to be caused by a decreased transfer of calcium across the placenta. Hypothermia is due to decreased subcutaneous fat and therefore impaired thermoregulation. Hypoglycemia occurs because of decreased glycogen stores.
Patients with galactosemia are at increased risk for neonatal sepsis caused by what organism?
E. Coli
What are the 3 contraindications to administration of the diptheria-tetanus-acellular pertussis (DTaP) vaccine?
- History of immediate anaphylaxis with previous DTAP administration
- Unstable neurologic disorders
- History of encephalopathy within a week of administration of the DTaP vaccine
The following findings are consistent with what diagnosis?
- Palpable purpura on lower extremities
- Arthralgias
- Abdominal pain
- Renal disease
- Immunofluorescence microscopy shows IgA deposition in the kidney
Henoch-Schonlein purpura
This is an immunoglobulin A-mediated vasculitis of the small vessels that is most common in children.
The following signs/symptoms are characteristic of what diagnosis?
- Angiokeratomas
- Peripheral neuropathy
- Asymptomatic corneal dystrophy
- Kidney or heart failure
- Thromboembolic events
Fabry’s disease
This is a sphingolipidosis that results from a deficiency of alpha-galactosidase.
What should be suspected in a toddler with a firm, smooth, unilateral abdominal mass and hematuria?
Wilms tumor
This is the most common pediatric renal malignancy.
Intravenous pyelography showing bilateral focal parenchymal scarring and blunted calyces is characteristic of what diagnosis?
Chronic pyelonephritis
What are the two most common pathogens responsible for causing acute bacteril rhinosinusitis in children?
- Streptococcus pneumoniae (~30%)
- Nontypeable haemophilus influenzae (~30%)
The third most common is Moraxella catarrhalis (~10%). Because of increasing beta-lactamase resistance, the treatment of choice is amoxicillin-clavulanic acid.
What is the treatment of choice for seborrheic dermatitis?
- Moisturizers
- Antifungals
- Topical steroids
This is a common pediatric skin conditions characterized a by papular, scaly rash that tends to affect the eyebrows, nasolabial folds, and scalp.
The following signs/symptoms in a child are characteristic of what diagnosis?
- Headaches
- Vomiting
- Visual disturbances
- Unbalanced gait
- Trunk dystaxia
- Horizontal nystagmus
- Papilledema
Medulloblastoma
The patient presents with posterior Vermis syndrome (truncal dystaxia). Medulloblastoma represents 7% of primary brain tumors, and is the second most common posterior fossa tumor (after cerebellar astrocytoma) in children. It is highly radiosensitive and can metastasize through the CSF tract. Over 90% of medulloblastomas develop in the vermis.
Osteonecrosis in sickle cell patients most commonly occurs in what 2 bones?
Humerus and femur
Osteonecrosis is a common complication of sickle cell anemia due to vaso-occlusion of the bone. It causes significant joint pain and functional limitation.
What disorder should be considered in a patient with mild immunodeficiency consisting of recurrent sinopulmonary and GI infections, and anaphylactic transfusion reaction?
IgA deficiency
Diagnosis may be confirmed by measurement of a low serum IgA concentration with normal serum IgM and IgG levels.
What presents with abrupt onset fever, sore throat, dysphagia, and drooling?
Epiglottitis
Airway obstruction is the most concerning potential complication of epiglottitis, and often requires nasotracheal intubation. In unimmunized children, H. influenzae type b is a likely cause.
What diagnosis fits the following description?
A soft, blue, compressible mass up to a few centimeters in size that presents later in life and appears as a large dilated vascular space on light microscopy.
Cavernous hemangioma
Pain in the hip of a sickle cell disease patient is characteristic of what?
Aseptic necrosis of the femoral head
This is a common complication of sickle cell disease. It involves occlusion of end arteries supplying the femoral head, bone necrosis, and eventual collapse of the periarticular bone and cartilage. The femoral head has two main sources of blood supply: ascending arteries and the foveal artery, which lie within the ligamentum teres. The foveal artery is patent early in life, but may become obliterated in older patients. This explains why aseptic necrosis of the femoral head is uncommon in children.
What neonatal diagnosis would be made in an infant born to an unimmunized mother following an umbilical stump infection?
Neonatal tetanus
Affected infants initially present in the first two weeks of life with poor suckling and fatigue, followed by rigidity, spasms and opisthostonus.
The following signs/symptoms are characteristic of what diagnosis?
First 2 weeks of life
- Poor suckling
- Fatigue
Followed by
- Rigidity
- Spasms
- Opisthotonus
Neonatal tetanus
- Neonatal tetanus is often generalized and invariably fatal, if left untreated. The onset is generally within the first 2 weeks of birth, and is characterized by poor suckling and fatigue followed by rigidity, spasms and opisthotonus. The mortality rate is very high due to apnea (in the first week of life) and septicemia (in the second week).*
- Opisthotonus = Hyperextension and spasm of the head, neck, and back*
What kind of seizures are treated with lamotrigine?
Mixed seizures
Lamotrigine is used as a first-line agent for mixed seizures, and as a second-line drug for generalized tonic-clonic and partial seizures.
The following findings are consistent with what diagnosis?
- Massive splenomegaly
- High lymphocytosis
- Lymphadenopathy
Prolymphocytic leukemia
This is a chronic lymphocytic leukemia (CLL) variant.
The following findings are characteristic of what diagnosis?
- Pancytopenia
- Hyperpigmentation on the trunk, neck or intertriginous areas
- Cafe-au-lait spots
- Short stature
- Upper limb abnormalities
- Hypogonadism
- Skeletal anomalies
- Eye/eyelid changes
- Renal malformations
Fanconi’s anemia
Blood counts start to decrease between 4 and 12 years of age, and the initial manifestation is usually thrombocytopenia, followed by neutropeina, then anemia.
What are the four indications for surgery to repair an congenital umbilical hernia in a child?
- Hernia persists to the age of 3 or 4 years
- Hernia exceeds 2 cm in diameter
- Hernia causes symptoms or becomes strangulated
- Hernia progressively enlarges after the age of 1-2 years
What presents with decreased serum concentrations of IgG, IgA, IgM, and IgE, along with absent or markedly decreased B cells on the smear?
Bruton’s agammaglobulinemia
What are the screening recommendations for patients with Beckwith-Wiedemann syndrome?
- Birth to age 4 years: Abdominal ultrasound and alpha-fetoprotein levels every 3 months
- Age 4-8 years: Abdominal ultrasound every 3 months
- Age 8 years through adolescence: Renal ultrasound every 3 months
Vigilant surveillance is to rule out the development of Wilms tumor and hepatoblastoma.
What vitamin/nutrient supplement should be started at birth and continued for the first year in an exclusively breastfed preterm infant?
Iron
Preterm infants are at significantly increased risk for iron deficiency anemia. All exclusively breastfed infants should also be started on vitamin D supplementation.
The following findings are consistent with what diagnosis?
At presentation
- Vomiting
- Hypotonia
Symptoms progress to
- Neurologic features (mental retardation, dystonia, choreoathetosis, spasticity)
- Gouty arthritis
- Tophus formation
- Self-mutilation
Lesch-Nyhan syndrome
Presentation is generally around age 6 months with hypotonia and persistent vomiting. This is an X-linked recessive disorder (all victims of Lesch-Nyhan syndrome are male) resulting from a deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT), an enzyme involved in purine metabolism. This deficiency results in increased levels of uric acid and its consequent accumulation in peripheral tissue. Gout is usually seen in patients above 50 years of age, therefore, suspect Lesch-Nyhan syndrome if you see a boy with gout.
What is the most common cause of nephrotic syndrome in patients younger than 16 years of age?
Minimal Change Disease
Light microscopy and immunofluorescence does not usually reveal any change in kidney architecture. Electron microscopy shows diffuse effacement of foot processes of podocytes. Steroids are the treatment of choice.
What organ has the highest morbidity/mortality following hemolytic uremic syndrome?
The kidneys
The toxin released by E. Coli enters systemic circulation and injures the endothelial cells in the kidney.
What typically presents in boys age 4-10 years old with insidious-onset hip or knee pain and an antalgic gait?
Legg-Calves-Perthes (LCP) disease
Initial x-rays may be negative. It can be clinically distinguished from transient synovitis by the duration of symptoms (1-4 weeks for transient synovitis vs >1 month for LCP).
By the age of 2 years, a child’s vocabulary has usually increased to how many words?
150-300 words
The following signs/symptoms are characteristic of what diagnosis?
- Fever
- Sore throat
- Pericarditis
- Erythema marginatum
- Arthritis
- Chorea
- Subcutaneous nodules
Rheumatic fever
This is caused by group A streptococcus.
Breath holding spells are episodes of apnea that are sometimes associated with a loss of consciousness. What is the best approach to a child with such episodes?
Reassure the parents
Breath holding spells are self-limited and should be treated with education and reassurance.
What is the best test for diagnosis of vesicoureteral reflux?
Voiding cystourethrogram (VCUG)
Renal ultrasound is not a sensitive modality for detection.
The following findings in a newborn during the first few weeks of life are consistent with what diagnosis?
- “Floppy baby”
- Feeding difficulties
- Macroglossia (large tongue)
- Heart failure
Pompes disease (acid maltase deficiency)
This is type II glycogen storage disease. Heart failure occurs due to progressive hypertrophic cardiomyopathy.
The following findings are consistent with what diagnosis?
At birth
- Macrosomia
- Macroglossia
- Umbilical hernia/omphalocele
- Hemihyperplasia
- Hypoglycemia
Later may develop
- Wilms tumor
- Hepatoblastoma
Beckwith-Wiedemann syndrome
This is an overgrowth disorder characterized by a predisposition to neoplasms. Most patients have a sporadic or inherited alteration of chromosome 11p15, which includes genes that encode insulin-like growth factor 2, a growth-promoting hormone similar to insulin.
The following findings suggestive of what diagnosis?
- Prodrome of fever, irritability, and skin tenderness
- Followed by generalized erythema and superficial flaccid blisters with a positive Nikolsky sign (mild rubbing causes skin to exfoliate)
Staphylococcal Scalded Skin Syndrome
This is caused by exfoliative toxin-producing strains of S. Aureus. It ends with scaling and desquamation of the skin before resolution of the disease process. It typically affects children below age 10 years old, but adults with kidney disease or immune compromise may also be affected.
The following characteristics are consistent with what developmental age?
- Gross motor: Pulls to a stand, cruises
- Fine motor: 3-finger pincer grasp, holds bottle or cup
- Language: Says “dada” and “mama”
- Social/cognitive: Waves “bye”, plays pat-a-cake
9 months
What is the treatment of choice for minimal change disease?
Steroids
Patients respond dramatically to steroids. With 4-6 weeks of therapy, over 90% of children demonstrate complete remission with the disappearance of proteinuria.
Which 2 viruses are the most common cause of viral meningitis?
Echovirus and coxsazkievirus
Klumpke palsy is a result of damage to which nerves?
C8 and T1
Klumpke palsy is a rare but potentially permanent complication of shoulder dystocia. Injury to the 8th cervical and 1st thoracic nerves results in hand paralysis and ipsilateral Horner syndrome.
What is the most common pathogen responsible for causing acute, unilateral cervical lymphadenitis in children?
Staphylococcus aureus
Cervical lymphadenopathy is common in children. Lymphadenitis is diagnosed when the lymph node becomes tender and erythematous in addition to bein enlarged. Although there are multiple causes for lymphadenopathy in children, the differential diagnosis can be narrowed by determining if the lymphadenopathy is acute or subacute/chronic, and if it is unilateral or bilateral. Acute, unilateral lymphadenitis in children is usually caused by a bacterial infection.
The following characteristics are consistent with what developmental age?
- Gross motor: Sits with trunk support, begins rolling
- Fine motor: Hands mostly open, reaches midline
- Language: Laughs, turns to voice
- Social/cognitive: Enjoys looking around
4 months
What does a positive Guthrie test signify?
Phenylketonuria
This is a qualitative (coloration) test which can detect the presence of metabolic products of phenylalanine in the urine.
The following signs/symptoms are characteristic of what diagnosis?
- Fever
- Headache
- Vomiting
- Sore throat
- Fine pink blanching papules on the neck and upper trunk (12-48 hours after the onset of constitutional symptoms)
Scarlet Fever
This is a toxin-related process, caused by a toxin-producing strain of group A streptococcus. It primarily occurs in children. Skin eruption is said to have a rough, sandpaper-like texture.
Deficiency of galactose-1-phosphate uridyl transferase is characteristic of what diagnosis?
Galactosemia
Galactosemia is not a self-limiting condition. Failure to make an early diagnosis and to intervene can lead to severe and irreversible liver cirrhosis and mental retardation. Early diagnosis and treatment have been shown to affect the patient’s eyesight. Bilateral cataracts may regress, and the eyesight of most patients are improved or normal.
