An infant with an alopecic plaque on the scalp and ocular choristomas: case presentation. Diagnosis: Encephalocraniocutaneous lipomatosis (ECCL).

摘要

At 2 months, evaluation by a neurologist revealed her to be neurologically intact, without evidence of seizures or developmental delay. A magnetic resonance imaging scan revealed extraaxial fluid in the anterior portion of the temporal region, with fatty dural thickening along the base of the middle cranial fossa. No intraspinal lipomas were noted. Echocardiogram revealed a patent foramen ovale but was otherwise normal. Evaluation by an ophthalmologist revealed widening of the right palpebral fissure with mild ipsilateral proptosis and more prominence of the right globe than of the left globe. Her corneal lesions were diagnosed as limbal dermoids, a form of ocular choristoma (Fig. 3).