Neuro
A 14 yo girl with history of campylobacter diarrhea presents with:
progressive weakness that began distally in her legs, with paralysis moving upward toward her lower abdomen, lost tendon reflexes in lower extremities, sensory examination intact, except for possible diminution of vibratory sensation, css showing elevated protein with a normal cell count
What is the diagnosis?
Guillain-Barre Syndrome
What type of antinuclear antibody pattern is seen in children with mixed connective tissue disease?
speckled ANA
You are evaluating a 4 yo boy with the following:
Intellectual disability
Large head
Long face with large ears
Large hands and feet
hyper extensible joints
What is the most likely diagnosis?
Fragile X
Children with galactosemia are at a greater risk of what infection?
E coli sepsis
Loud, frequent, disruptive snoring
restless sleep
Daytime sleepiness and drowsiness
Increased irritability/anxiety
What is the most likely diagnosis?
OSA
As a single risk factor, what is the most common cause of ischemic stroke in children?
sickle cell disease
Distal interphalangeal joint arthritis
Dactyilitis
Nail pitting
ANA positive
What is the diagnosis?
Juvenile psoriatic arthritis
Name two common heart defects seen in trisomy 21
AV Canal defects
VSD
ASD/TOF
A 2 week old with noticeably fair hair and skin compared to the parents, was completely normal at birth. Child had home delivery with no testing.
Now has vomiting, irritability, eczematous rash, musty odor
What is the most likely diagnosis?
PKU
Intermittent cyanosis, especially when being fed
inability to pass a firm catheter through either nostril to a depth of 3cm
What is the diagnosis?
Choanal atresia
Name the disorder with these findings
Hypoactive or absent deep tendon reflexes, Ataxia, Corticospinal track dysfunction, impaired vibratory and proprioceptive function, hypertrophic cardiomyopathy, diabetes
Friedrech ataxia
17 yo female presents with:
Recurrent buccal aphthous ulcers, painful recurrent genital aphthous ulcers, anterior uveitis and papilledema, erythema nodosum, a positive pathergy test.
What is the most likely diagnosis?
Behcet disease
Midline cleft lip, microphthalmia, postaxial polydactyly of the limbs, holoprosencephaly, absent ribs, aplasia cutis congenita
What is the most likely diagnosis?
Trisomy 13/Patau syndrome
Marfanoid habitus, developmental delay, and ocular lens dislocation which is downward and medial
What is the most likely diagnosis?
homocystinuria
A 10 yo presents with:
Nasal stuffiness, mouth breathing, a nasal voice, history of recurrent pneumonia
on physical exam, you note nasal polyps
For what illness should she be evaluated?
Cystic fibrosis
A child presents with an ischemic stroke. If a prothombotic factor is responsible, what is the likely abnormality?
acquired antiphospholipid antibody
A 14 yo girl presents with:
Chronic right upper arm pain that is aggravated by just stroking her skin gently
Complaints that the entire arm appears swollen and is warm
Occasional mottling of the skin in this area
What is the likely diagnosis?
Complex regional pain syndrome
WAGR syndrome is characterized by which 4 abnormalities?
Wilms tumor
Aniridia
Genitourinary malformation
Reduced intellectual abilities
1 yo presents with fasting induced lethargy and documented hypoglycemia with a seizure. AST and ALT are elevated, as well as CK. He also has a history of arrhythmias.
What is the most likely diagnosis?
MCAD Deficiency
A healthy 3 yo girl with tympanostomy tubes presents with:
A 2 month history of intermittent, painless drainage from her tubes
Muffled hearing on and off
No mass identified behind the ear drum
What is the most likely cause of this child's ear drainage?
A 10 yo boy has the following recurrent seizure episodes:
Morning myoclonic jerking, generalized tonic-clonic seizures occurring just after awakening or during sleep, normal intelligence, family history of similar seizures
What condition causes the type of seizure he is having?
juvenile myoclonic epilepsy
A 3 yo boy presents with:
Fever of 5-7 days duration occurring every 4 weeks
Aphthous ulcers of the mouth
Sore throat/cervical lymphadenitis
No current or history of neutropenia
What is the diagnosis?
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA)
A child presents with the following:
Partial albinism
White forelock
Premature graying
Iris heterochromia
history of cleft lip
cochlear deafness
What is the most likely diagnosis?
Waardenburg syndrome 1
An adolescent boy at the onset of puberty presents with:
Severe, episodic pain in the hands and feet, fever, heat exposure sets off pain crises, he doesn't sweat
What is the most likely diagnosis?
Fabry disease
What is the usual age for a cleft palate repair?
9-18 months