Partial encephalocraniocutaneous lipomatosis syndrome
نویسندگان
چکیده
منابع مشابه
Partial Encephalocraniocutaneous Lipomatosis Syndrome
Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria. The constellation of clinical finding and imag...
متن کاملEncephalocraniocutaneous Lipomatosis: Haberland Syndrome
BACKGROUND Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral...
متن کاملEncephalocraniocutaneous Lipomatosis
Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, uni...
متن کاملEncephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
PURPOSE To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. CONCLUSION Since the skin and ocular manifestati...
متن کاملEncephalocraniocutaneous Lipomatosis without Neurologic Anomalies
Received September 22, 2011, Revised December 26, 2011, Accepted for publication January 18, 2012 Corresponding author: Jeung-Hoon Lee, M.D., Department of Dermatology, Chungnam National University Hospital, Munhwaro 282, Jung-gu, Daejeon 301-721, Korea. Tel: 82-42-280-7706, Fax: 82-42-280-8459, E-mail: [email protected] This is an Open Access article distributed under the terms of the Creative C...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2017
ISSN: 1817-1745
DOI: 10.4103/jpn.jpn_130_16