Pediatric emergency medicine trisk 2485 2485
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FIGURE 96.12 Mongolian spots. (Courtesy of George A. Datto, III, MD. In: Chung EK,
Atkinson-McEvoy LR, Boom JA, et al., eds. Visual Diagnosis and Treatment in Pediatrics . 2nd
ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2010. With permission.)
Ash-leaf macules are irregular hypopigmented macules, often with an oval or
“ash-leaf” appearance, commonly associated with tuberous sclerosis (TSC), a
condition characterized by benign tumors in multiple organs. While all the
clinical features of TSC may not be apparent in the first year of life, the median
age of presentation is over 6 months of age, most commonly with seizures,
infantile spasms, or several macules. Cardiac rhabdomyoma, often found on
prenatal ultrasound (US), is the second most common presentation. More than
three macules, at least 5 mm in diameter, are part of the criteria for TSC. Should
the clinician suspect TSC in an infant with several criteria, the infant should be
referred for molecular genetic testing ( Fig. 96.14 ).
