Spinal cord involvement in encephalocraniocutaneous lipomatosis

Israel Alfonso, Pedro F. Lopez, Robert F. Culler, Reinaldo Martin-Jimenez, Rafael L. Bejar

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

Encephalocraniocutaneous lipomatosis is a rare hamartomatosis involving the craniofacial region and the central nervous system. The most prominent clinical features are large areas of scalp alopecia, soft subcutaneous craniofacial masses, lipomas, connective tissue nevi of the eyelids and surrounding areas, pterygium-like choriostoma of the ocular conjunctiva, mental retardation, motor deficit, and seizures. Of the eight patients reported previously, three had spinal cord evaluations and two had evidence of lipomatosis. We report the third patient with this association, review the literature of encephalocraniocutaneous lipomatosis, and stress the importance of spinal cord evaluation during the newborn period.

Original languageEnglish (US)
Pages (from-to)380-384
Number of pages5
JournalPediatric Neurology
Volume2
Issue number6
DOIs
StatePublished - Jan 1 1986

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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    Alfonso, I., Lopez, P. F., Culler, R. F., Martin-Jimenez, R., & Bejar, R. L. (1986). Spinal cord involvement in encephalocraniocutaneous lipomatosis. Pediatric Neurology, 2(6), 380-384. https://doi.org/10.1016/0887-8994(86)90084-6