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DOI: 10.1055/s-2000-7457
Georg Thieme Verlag Stuttgart · New York
CNS Lipoma in Patients with Epidermal Nevus Syndrome
Publication History
Publication Date:
31 December 2000 (online)
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Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are caused by a wide range of neuropathological lesions. We describe three patients with ENS, all of whom had in addition to the characteristic features of ENS intracranial and/or intraspinal lipomas. In one patient the lipoma extended from the thoracal vertebra 8 to the 4th ventricle; in the second patient it was localized on T9, and in the third patient an intracranial lipoma was located at the right cerebellopontine angle. The intraspinal lipomas caused a significant spastic movement disorder. So far, CNS lipomas have not been described as typical neuropathological findings in ENS. The differential diagnosis to encephalocraniocutaneous lipomatosis with the typical finding of CNS lipoma is discussed.
Key words
Epidermal nevus syndrome - CNS lipoma - Neurological symptoms - Encephalocraniocutaneous lipomatosis
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Dr. Volker Mall
Department of Neuropediatrics and Muscle Disorders Children's Hospital University of Freiburg
Mathildenstraße 1
79106 Freiburg
Germany
Email: E-mail: Mall@kkl200.ukl.uni-freiburg.de