Rare Presentations
This metabolic disorder may first present as recurrent vomiting and lethargy after high-protein meals
urea cycle disorder. e.g., ornithine transcarbamylase deficiency
This cause of precocious puberty may present with café-au-lait spots and fibrous dysplasia of bone
McCune-Albright syndrome
This syndrome may present with neonatal hypotonia and poor feeding, but later develops hyperphagia and obesity.
Prader-Willi syndrome
This congenital heart defect may present with cyanosis that worsens during crying but improves when squatting.
Tetralogy of Fallot
This rare cause of neonatal jaundice is due to a deficiency of UDP-glucuronosyltransferase.
Crigler-Najjar syndrome type I
This endocrine condition may present with ambiguous genitalia in a female newborn and salt-wasting crisis
21 alpha hydroxylase deficiency
This cause of cyanosis in a newborn may be missed on pulse oximetry due to normal oxygen saturation readings
methemoglobinemia
This chromosomal disorder may present with lymphedema of hands and feet in a newborn girl.
turner syndrome
This condition may present with sudden collapse in a previously healthy adolescent athlete.
hypertrophic cardiomyopathy
This rare cause of chronic diarrhea in infants is due to congenital absence of enteric ganglion cells
Hirschsprung disease
This cardiac anomaly may present with feeding difficulty and failure to thrive due to vascular compression of the esophagus
Double Aortic arch
This GI condition may present with recurrent pneumonia due to aspiration in a child with no GI symptoms.
tracheoesophageal fistula (H-type
This syndrome may present with neonatal hypoglycemia, macroglossia, and omphalocele
Beckwith-Wiedemann syndrome
. This vascular anomaly may present with upper extremity hypertension and weak femoral pulses.
coarctation of the aorta
This rare cause of anemia in infancy is due to pure red cell aplasia
Diamond-Blackfan anemia
This neurologic disorder may present with regression of milestones and hand-wringing stereotypies in a previously normal girl.
Rett syndrome
This renal condition may present with hypertension and hematuria after a sore throat, but with normal complement levels.
IgA nephropathy (Berger’s disease)
This syndrome may present with self-mutilation, gout, and developmental delay
Lesch-Nyhan syndrome
This arrhythmia may present with syncope and a family history of sudden death, but a normal resting ECG
catecholaminergic polymorphic ventricular tachycardia (CPVT
This rare cause of recurrent fractures and blue sclerae is due to a collagen defect.
osteogenesis imperfecta
This infectious disease may present with painless genital ulcer followed by inguinal lymphadenopathy in a sexually abused child
lymphogranuloma venereum
This immunodeficiency may present with eczema, thrombocytopenia, and recurrent infections.
Wiskott-Aldrich syndrome
This syndrome may present with neonatal seizures and a “happy” demeanor in early childhood
Angelman syndrome
This condition may present with hepatomegaly and heart failure in infancy due to a dilated right atrium.
Ebstein anomaly
This rare cause of neonatal seizures is due to pyridoxine dependency
pyridoxine-dependent epilepsy