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 was prescribed. Echocardiogram and renal ultrasonography both normal. His developmental milestones within normal age ranges. No significant family history reported.
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?
1. Tuberous sclerosis. UpToDate. http://www.utdol.com. Accessed July 11, 2008.
2. Northrop H, Au K. GeneReviews Database. University of Washington, Seattle. http://www.ncbi.nim.nih.gov/bookshelf/br.fcgi?book=gene∂=tuberoussclerosis.
Updated December 5, 2005. Accessed November 12, 2008.
3. OMIM. Tuberous sclerosis; TS (#191100). http://www.ncbi.nlm.nih.gov/
entrez/dispomim.cgi?id=191100. Accessed November 12, 2008.
4. Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child
5. National Institute of Neurological Disorders and Stroke. NINDS Tuberous
Sclerosis Information Page. http://www.ninds.nih.gov/disorders/tuberous_
sclerosis/tuberous_sclerosis.htm. Updated September 9, 2008. Accessed
November 12, 2008.
6. Jones KL, Smith DW. Smith's Recognizable Patterns of Human Malformation.
5th ed. Philadelphia: WB Saunders; 1997.