Select the most common clinical sign or symptom for diagnosis PHACE syndrome

A. A 6-month-old child with blindness on the same side as a large facial lesion

B. An infant with infantile spasms, a hypsarrhythmic EEG pattern, and ash-leaf depigmentation on her back

C. An 18-year-old patient with a history of fractures and optic gliomas, who now has developed a malignant schwannoma

D. A 2-year-old child with multiple episodes of skin infection and failure to thrive

Correct Answer: A 6-month-old child with blindness on the same side as a large facial lesion

Description: The child with a unilateral facial lesion and blindness suggests either Sturge-Webber or PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta or other cardiac defects, and eye abnormalities). These patients can have seizures, hemiparesis, intracranial calcifications, and mental retardation.

Category: Pediatrics

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