Encephalocraniocutaneous lipomatosis: A case report with review of literature

Siddiqui, S. and Naaz, S. and Ahmad, M. and Khan, Z.A. and Wahab, S. and Rashid, B.A. (2017) Encephalocraniocutaneous lipomatosis: A case report with review of literature. Neuroradiology Journal, 30 (6). pp. 578-582. ISSN 19714009

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Official URL: http://journals.sagepub.com/doi/full/10.1177/19714...

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is an uncommon sporadic neurocutaneous syndrome of unknown origin. The rarity and common ignorance of the condition often makes diagnosis difficult. The hallmark of this syndrome is the triad of skin, ocular and central nervous system (CNS) involvement and includes a long list of combination of conditions. Herein we report a case of a 5-month-old male child who presented to our centre with complaint of seizure. The patient had various cutaneous and ocular stigmatas of the disease in the form of patchy alopecia of the scalp, right-sided limbal dermoid and a nodular skin tag near the lateral canthus of the right eye. MRI of the brain was conducted which revealed intracranial lipoma and arachnoid cyst. The constellation of signs and symptoms along with the skin, ocular and CNS findings led to the diagnosis of ECCL.

Item Type: Article
Uncontrolled Keywords: Encephalocraniocutaneous lipomatosis; Haberland syndrome; neurocutaneous syndrome
Subjects: R Medicine > R Medicine (General)
Divisions: Faculties > Faculty of Medicine > J.N. Medical College
Depositing User: AMU Library
Date Deposited: 30 Jan 2018 04:57
Last Modified: 01 Feb 2018 03:50
URI: http://ir.amu.ac.in/id/eprint/11029

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