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.
Zahariev
Zahari Iv
ZI
Department of Neurology, Medical University, Plovdiv, Bulgaria.
Peycheva
Marieta V
MV
Dobrev
Hristo P
HP
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*