Open AccessEncephalocraniocutaneous lipomatosis: A case report and review of the literature
Author(s) -
Shivcharan Lal Chandravanshi
Publication year - 2014
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.133521
Subject(s) - medicine , eyelid , calcification , coloboma , microphthalmia , canthus , lipoma , anatomy , dermatology , pathology , ophthalmology , biochemistry , chemistry , gene
Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. The left eye showed conjunctival congestion and corneal vascularization. Dermatological examination showed alopecia, nevus psiloliparus, focal dermal hypoplasia on forehead, multiple focal aplastic lesions on the scalp, skin tag at canthus, and lipoma in the fronto-temporal region. Imaging revealed calcification of the right globe, hydrocephalus, agenesis of corpus callosum, multiple intracranial cysts, calcification, and lipomas. The constellation of these clinical and the imaging findings led to a diagnosis of encephalocraniocutaneous lipomatosis. This case report and review of the literature is presented to provide a synopsis of problems likely to be encountered by an ophthalmologist who treats patients with ECCL.