Haberland syndrome (Encephalocraniocutaneous lipomatosis): A case report & Review of Literature
Iranian Journal of Child Neurology,
Vol. 19 No. 1 (2025),
7 January 2025
,
Page 127-133
https://doi.org/10.22037/ijcn.v19i1.37492
Abstract
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare, nonhereditary, nonprogressive congenital neurocutaneous syndrome with underlying ectodermal dysgenesis. The classic triad of this syndrome is central nervous system (CNS), ocular, and cutaneous involvement as unilateral lipomatous lesions of the scalp, neck, and face with ipsilateral brain anomalies and ipsilateral ocular choristoma. Herein, this study reports a case of a 2-year-old boy presented with status epilepticus for the first time. Intraspinal lipoma, arachnoid cyst, cerebral hemiatrophy, asymmetric hydrocephaly, choristoma, and corneal clouding were noted. This case fulfilled Moog’s clinical criteria for diagnosis of Haberland syndrome. Additionally, this study introduces linear and whorled nevoid hypermelanosis and cerebral periventricular white matter hyperintensity as novel manifestations of this syndrome.
- Haberland syndrome, Encephalocraniocutaneous lipomatosis (ECCL), lipoma, neurocutaneous syndrome, epilepsy
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References
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