Journal article
Encephalocraniocutaneous lipomatosis: neurologic manifestations
Journal of child neurology, v 18(10), pp 725-729
01 Oct 2003
PMID: 14649557
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
We report a new case of encephalocraniocutaneous lipomatosis, a rare neurocutaneous syndrome of unknown etiology with involvement of tissues arising from the mesoderm and ectoderm: skin, eye, adipose tissue, and brain. We also review the neurologic manifestations of the syndrome, the most frequent of which include seizures, ventricular enlargement, calcifications, mental retardation, and cerebellopontine angle tumor. Our patient had an extensive extradural spinal cord lipomatous lesion, emphasizing the importance of screening for spinal abnormalities in asymptomatic patients with this condition.
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Details
- Title
- Encephalocraniocutaneous lipomatosis: neurologic manifestations
- Creators
- Rafael LasierraIgnacio Valencia - St. Christopher's Hospital for ChildrenFrancisco J CarapetoPurificación Ventura - Hospital Clínico Universitario Lozano BlesaM Pilar Samper - Hospital Clínico Universitario Lozano BlesaGerardo Rodríguez - Hospital Clínico Universitario Lozano BlesaJosé M Pérez-González - Hospital Clínico Universitario Lozano BlesaAgustín Legido - St. Christopher's Hospital for Children
- Publication Details
- Journal of child neurology, v 18(10), pp 725-729
- Publisher
- Sage
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000186428300013
- Scopus ID
- 2-s2.0-0242456115
- Other Identifier
- 991020785761704721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Clinical Neurology
- Pediatrics