Abstract:
: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.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Mall V,Heinen F,Uhl M,Wellens E,Korinthenberg Rdoi
10.1055/s-2000-7457subject
Has Abstractpub_date
2000-08-01 00:00:00pages
175-9issue
4eissn
0174-304Xissn
1439-1899journal_volume
31pub_type
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