Consultant for Pediatricians. Vol. 7 No. 12

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What’sYour Diagnosis?
Sharpen Your Physical Diagnostic Skills

Hypopigmented Patches in Infant With a History of Seizures

By GERMAINE L. DEFENDI, MD, MS,ALEXANDER K. C. LEUNG, MD | November 30, 2008

Dr Defendi is associate clinical professor of pediatrics at the University of California at Los Angeles (UCLA) and a physician specialist in pediatrics at Olive View–UCLA Medical Center. Dr Leung is clinical associate professor of pediatrics at the University of Calgary and pediatric consultant at the Alberta Children's Hospital.

HISTORY

Four-month-old Hispanic boy brought for evaluation because of hypopigmented patches on his skin and a history of seizures. Infant was the product of an uncomplicated pregnancy; born at 40 weeks' gestation to a 16-year-old gravida 1, para 1 mother who received appropriate prenatal care. At birth, he had multiple hypopigmented patches on his face, torso, and extremities. At age 2 months, he was hospitalized for new-onset seizures. Brain MRI scan revealed multiple subependymal and subcortical hamartomas; phenobarbital(Drug information on phenobarbital) was prescribed. Echocardiogram and renal ultrasonography both normal. His developmental milestones within normal age ranges. No significant family history reported.

PHYSICAL EXAMINATION

Infant appeared well, robust, and happy. Weight, 7.9 kg (17.4 lb) (90th percentile); height, 62 cm (24.4 in) (25th percentile). Occipitofrontal (head) circumference, 42 cm (16.5 in) (50th percentile). No dysmorphic features. Results of a physical examination unremarkable except for 11 elliptical hypopigmented macules on his face, torso, and extremities.

WHAT'S YOUR DIAGNOSIS?

(answer on next page)

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by KHAIRIA MONTASER | March 18, 2012 2:53 PM EDT

MOSIAC HYPOMELANOSIS (HYPOMELANOSIS OF ITO)

TOPIC INDEX

Developmental/Genetic

Nutritional/Metabolic

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Hypopigmented Patches in Infant With a History of Seizures

PHYSICAL EXAMINATION

WHAT'S YOUR DIAGNOSIS?

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