Neurology
Cardiology
Dermatology
Infectious Disease
Common Disorders
100
A 2 wk old with history of intrauterine CMV infection presents with lethargy, vomiting, increased head circumference, and dilated scalp veins. What is the likely diagnosis?
Hydrocephalus Occurs commonly after intrauterine infection with CMV, rubella, toxoplasmosis, and syphilis. The infections cause an inflammatory reaction of the ependymal linings of the ventricular system and the meninges of the subarachnoid space, resulting in decreased ability to absorb CSF.
100
A newborn presents with cyanosis of the fingers and hands, but not the toes or feet. What cardiac condition does this indicate?
Transposition of the Great Vessels Cyanosis of the fingers/hands but not the toes/feet is termed reverse differential cyanosis. This indicates transposition of the great vessels with right-to-left shunting of saturated blood through the ductus.
100
A newborn presents with an area of absence of the skin on her head. What is the most likely diagnosis?
Aplasia Cutis Congenital absence of skin that usually occurs only in a small, localized area. 25% will have underlying skull abnormalities.
100
A child with cyanotic heart disease presents with new onset headache and seizure. MRI shows a brain abscess. What is the most likely organism?
Staphylococcus aureus Children with cyanotic heart disease are at increased risk of brain abscesses due to staph aureus.
100
By what age do most children reach 20/20 vision?
5 years of age Most term newborns are nearsighted at birth with visual acuity of approximately 20/400. Their vision trends toward farsightedness until age 7, generally passing through 20/20 around 3-5 years. Maximum hyperopia (farsightedness) occurs at age 7 after which the visual acuity slowly decreases back to 20/20 or even myopia by about age 14. This trend slows but continues until the patient is about 30.
200
A newborn is noted to have a herniation of meninges through a defect in the posterior vertebral arches. The spinal cord itself is normal. The area is well covered with skin. What is the diagnosis?
Meningocele Surgery can be delayed for those patients with completely normal neurologic exams and with complete, full-thickness skin covering the meningocele.
200
An infant fails the newborn hearing screen and an EKG has a very prolonged QT interval. What is the likely diagnosis?
Jervell and Lange-Neilsen Syndrome
200
A newborn presents with small, whitish-yellow masses on either side of the raphe on the hard palate. What are these masses?
Epstein Pearls These are essentially intraoral milia. They require no treatment and will resolve spontaneously.
200
A 5 yr old presents with meningococcal bacteremia. What lab test should you order to screen for the most likely immune deficiency associated with this infection?
CH50 This is a screen to make sure there is not a complement deficiency. Patients with terminal complement deficiency are specifically at increased risk for developing meningococcemia. If the CH50 screen is abnormal, then you would order specific complement levels.
200
What mineral deficiency has been associated with late-onset trichotillomania?
Iron Deficiency
300
A 2 yr old with history of infantile spasms has gradually developed the following findings: severe tonic seizures and intellectual disability. An EEG shows generalized, bilateral synchronous, sharp-wave and slow-wave complexes, occurring in a repetitive fashion in long runs at about 2/s. What syndrome does this child likely have?
Lennox-Gastaut Syndrome
300
Alagille and Noonan syndromes are both associated with what cardiac abnormality?
Pulmonic Stenosis
300
What are the white blood cells found in the pustules of transient neonatal pustular melanosis?
Neutrophils After the pustules rupture, the skin develops scaly, hyper pigmented macules of uniform size that may persist for months before resolving on their own.
300
A 2 yr old daycare attendee presents with: -- fever -- vomiting -- bloody diarrhea -- new tonic-clonic seizure -- WBC is elevated with significant bandemia -- rectal prolapse What is the most likely etiology for the diarrhea and other findings?
Shigella Children 1-4 yrs of age have the highest incidence. Bloody diarrhea as well as seizures commonly occurs. Rectal prolapse occurs in 5-8%. Most illnesses are self-limited, but antibiotics are recommended in severe cases and can shorten the disease course and limit spread to others.
300
A 13 yr old boy presents with severe nighttime pain in his proximal femur. It gets markedly better with NSAIDs, but not with acetaminophen. Plain x-ray of the femur shows a 1-cm, sharp round lesion with a homogenous dense center and a 1-2 mm, peripheral, radiolucent zone. What is the most likely diagnosis?
Osteoid Osteoma The key is that it responds to NSAIDs but not acetaminophen. Do not think this represents a neoplastic lesion. It is important to image children that have nighttime, unilateral bony pain.
400
A 3 mo girl presents with: hypotonia and weakness that is symmetric and with more proximal muscle involvement; legs more affected than arms; difficulty feeding; tongue fasciculations; no sensory deficits. What is the most likely diagnosis?
Werdnig-Hoffman Syndrome or Severe Infantile Spinal Muscular Atrophy Type 1 (SMA-1) Most severe of the spinal muscular atrophies. 2nd most common lethal autosomal recessive disorder (CF is number 1). Most patients die by age 2 from respiratory failure. Proximal muscle weakness and tongue fasciculations are the classic buzzwords to think about in this diagnosis.
400
A high school basketball player passes out and dies while playing a game. Hypertrophic cardiomyopathy is ruled out as a cause. What is the next most likely cause of sudden death in an exercising adolescent?
Anomalous Origin of Left Coronary Artery Occurs when the left coronary artery comes off the opposite cusp and passes between the aorta and the pulmonary artery. With exercise, both the aorta and pulmonary after dilate and "squish" the left coronary artery and cut off its circulation resulting in syncope and sudden death.
400
A child presents with a Nevus of Ota. What future complications do you worry about in this child?
Ocular and Cutaneous Melanoma Most common in African-American or Asian infants. Present as unilateral, irregularly speckled areas of bluish-gray discoloration on the face, specifically the periorbital area, temple, forehead, cheek, nose, or eye. Perform periodic eye and skin exams since melanoma is a rare complication.
400
A 15 yr old who lives on a farm and loves to eat chitterlings presents with an appendicitis-like syndrome. What organism is most likely responsible if this is truly not appendicitis?
Yersinia pseudotuberculosis or Y. enterocolitica Can cause "pseudoappendicitis" syndrome, especially in older children and adolescents. Transmitted by ingestion of raw or incompletely cooked pork products, contaminated water, or direct/indirect contact with animals.
400
Some children with OCD can have worsening of their symptoms with group A strep infection. What is the name of this syndrome?
Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococci (PANDAS) Thought to be due to antibodies directed towards group A strep that somehow cross-react with the basal ganglia and result in worsening symptoms.
500
A newborn is found to have the following triad: short neck, limited neck motion, low occipital hairline. These associated findings are noted as well: deafness, macrocephaly, meningocele and intellectual disability. What is the syndrome?
Klippel-Feil Syndrome There are 3 types based on the extent of vertebral column malformation. Fusion of C2-C3 is autosomal dominant, while C5-C6 is autosomal recessive
500
A 12 yr old girl presents with: -- Sudden onset of severe, sharp chest pain that is localized to the cardiac apex -- This is the 5th-6th episode she's had -- Each episode lasts from 30s to 2-3 min and then resolves -- Usually occurs at rest and has occurred in the last 2 days -- Seems to be worse if she takes a deep breath What is the likely diagnosis?
Precordial Catch One of the most common causes of chest pain in older children and adolescents. Etiology is unknown.
500
Infants with port-wine stains on the lower extremities are at risk for what syndrome?
Klippel-Trenaunay Syndrome Presents with vascular malformation (typically mixed capillary-venous-lymphatic) of an extremity, with associated soft tissue and/or limb overgrowth, and with development of venous varicosities.
500
A 5 yr old from rural Oklahoma presents with: -- fever to 102 -- swollen lymph node in his right inguinal area What is the most likely diagnosis?
Tularemia On the boards, if you see a child from Oklahoma (or Missouri or Arkansas) and they have a swollen lymph node with fever, go for tularemia, which is caused by Francisella tularensis. Treat with gentamicin or streptomycin fro 10 days.
500
A 7 yr old boy presents with: -- pain in his left hip and knee -- limping for several days -- plain x-ray of the hip shows a "ratty" appearance of the left femoral head What is the most likely diagnosis?
Legg-Calve-Perthes Disease A partial or complete idiopathic avascular necrosis of the femoral head. Most common in boys between 4 and 8 years of age. Make the child non-weightbearing, and refer to an orthopedist. Generally, it resolves with time, and does not require specific therapy.
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