Encephalocraniocutaneous lipomatosis: A case report and review of the literature.

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dc.contributor.authorChandravanshi, Shivcharan L
dc.date.accessioned2015-01-30T11:41:51Z
dc.date.available2015-01-30T11:41:51Z
dc.date.issued2014-05
dc.description.abstractEncephalocraniocutaneous 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.en_US
dc.identifier.citationChandravanshi Shivcharan L. Encephalocraniocutaneous lipomatosis: A case report and review of the literature. Indian Journal of Ophthalmology. 2014 May ; 62 (5): 622-627.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/155640
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065518/en_US
dc.subjectHaberland syndromeen_US
dc.subjectoculocerebrocutaneous syndromeen_US
dc.subjectencephalocraniocutaneous lipomatosis syndromeen_US
dc.subjectneurocutaneous syndromeen_US
dc.subjectDelleman-Oorthuys syndromeen_US
dc.subjectFishman syndromeen_US
dc.titleEncephalocraniocutaneous lipomatosis: A case report and review of the literature.en_US
dc.typeArticleen_US
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