Document Detail

Encephalocraniocutaneous lipomatosis: neurologic manifestations.
MedLine Citation:
PMID:  14649557     Owner:  NLM     Status:  MEDLINE    
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.
Rafael Lasierra; Ignacio Valencia; Francisco J Carapeto; Purificación Ventura; M Pilar Samper; Gerardo Rodríguez; José M Pérez-González; Agustín Legido
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  18     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-11-27     Completed Date:  2004-02-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  725-9     Citation Subset:  IM    
Department of Radiology, Hospital Clínico Universitario Lozano Blesa, Facultad de Medicina, Universidad de Zaragoza, Spain.
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MeSH Terms
Brain / pathology
Brain Diseases / complications,  physiopathology*
Cerebellopontine Angle / pathology
Cerebral Ventricles / pathology
Child, Preschool
Lipomatosis / complications,  physiopathology*
Magnetic Resonance Imaging
Mental Retardation / etiology
Nervous System Diseases / etiology*,  physiopathology
Seizures / etiology
Skin Diseases / complications,  physiopathology*
Skull / pathology
Spinal Cord / pathology
Spinal Cord Diseases / etiology,  physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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