This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Valencia, I. Articles by Legido, A. Search for Related Content PubMed PubMed Citation Articles by Valencia, I. Articles by Legido, A. Social Bookmarking                         What's this?

Encephalocraniocutaneous Lipomatosis: Neurologic Manifestations

Department of Pediatrics and Section of Neurology St. Christopher's Hospital for Children Drexel University College of Medicine Philadelphia, Pennsylvania

Francisco J. Carapeto, MD

Department of Dermatology Hospital Clínico Universitario "Lozano Blesa" Facultad de Medicina Universidad de Zaragoza Zaragoza, Spain

Purificación Ventura, MD

Department of Neonatology, Hospital Clínico Universitario "Lozano Blesa" Facultad de Medicina Universidad de Zaragoza Zaragoza, Spain

M. Pilar Samper, MD

Department of Neonatology, Hospital Clínico Universitario "Lozano Blesa" Facultad de Medicina Universidad de Zaragoza Zaragoza, Spain

Gerardo Rodríguez, MD

Department of Neonatology, Hospital Clínico Universitario "Lozano Blesa" Facultad de Medicina Universidad de Zaragoza Zaragoza, Spain

José M. Pérez-González, MD

Department of Neonatology, Hospital Clínico Universitario "Lozano Blesa" Facultad de Medicina Universidad de Zaragoza Zaragoza, Spain

Agustín Legido, PhD, MBA

Department of Pediatrics and Section of Neurology St. Christopher's Hospital for Children Drexel University College of Medicine Philadelphia, Pennsylvanian, Agustin.Legido{at}drexel.edu.

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. ( J Child Neurol 2003;18:725—729).

Journal of Child Neurology, Vol. 18, No. 10, 725-729 (2003)
DOI: 10.1177/08830738030180100101


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?