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Childs Nerv Syst ; 32(3): 559-62, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26231568

RESUMEN

PURPOSE: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous disorder. It was described by Haberland in 1970 and is also called Haberland syndrome. It is characterized by unilateral skin lesions such as lipomas, connective tissue nevi, and alopecia with ipsilateral ophthalmological and cerebral malformations with or without psychomotor and mental retardation and early-onset seizure. METHODS: We present three pediatric cases (two boys, one girl) with ECCL. All the patients' sociodemographic, clinical, and neuroradiological data was collected. RESULTS: We describe two male (5 and 1.3 years old) and one female (15 years old) cases. All patients have unilateral left-sided alopecia with ipsilateral ocular lesion and the cerebral lesion. All patients were born at term; their past history and family histories were unremarkable. Their electroencephalograms showed hemispheric asymmetry. All of the cases had right-sided mild to moderate hemiparesis. In addition, our second case is having optic glioma and this case is the fifth case with glioma associated with ECCL. CONCLUSIONS: We describe three additional cases with ECCL which is an extremely rare neurocutaneous syndrome. Also, case 2 has optic glioma and according to the literature this is the fifth case of low-grade gliomas with ECCL. We suggest that patients who have ocular lesion and ipsilateral skin lesion must be examined for ECCL, and the patients must be followed up with cerebral MRI once a year for low-grade gliomas.


Asunto(s)
Oftalmopatías , Lipomatosis , Síndromes Neurocutáneos , Adolescente , Preescolar , Femenino , Humanos , Lactante , Masculino
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