A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome).
Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome characterized by scalp, facial, and ocular lesions and multiple intracranial malformations. Approximately 50 cases have been described in the literature. We report a 34-year-old woman with a 6-year history of epilepsy, without mental retardation, with predominantly ipsilateral skin lesions evident at birth, with limbal lipodermoid of the left eye and multiple non-progressive, ipsilateral intracranial structures of soft, cystic components. The described malformations are congenital, mostly unilaterally located and with similar lipomatous structure.
Department of Neurology, Medical University, Plovdiv, Bulgaria.
Zahari Iv
ZI
Zahariev
Marieta V
MV
Peycheva
Hristo P
HP
Dobrev
D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis* / Q000209:etiology; D005260:Female; D006801:Humans; D008068:Lipomatosis / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000175:diagnosis*; D012867:Skin / Q000473:pathology*