Encephalocraniocutaneous lipomatosis: A case report and review of the literature.
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Date
2014-05
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Abstract
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
calcifi cation of the right globe, hydrocephalus, agenesis of corpus
callosum, multiple intracranial cysts, calcifi cation, and lipomas.
The constellation of these clinical and the imaging fi ndings
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.
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Keywords
Haberland syndrome, oculocerebrocutaneous syndrome, encephalocraniocutaneous lipomatosis syndrome, neurocutaneous syndrome, Delleman-Oorthuys syndrome, Fishman syndrome
Citation
Chandravanshi Shivcharan L. Encephalocraniocutaneous lipomatosis: A case report and review of the literature. Indian Journal of Ophthalmology. 2014 May ; 62 (5): 622-627.