Document Detail


Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims).
MedLine Citation:
PMID:  12802536     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual.
Authors:
Luitgard M Neumann; Ianina Scheer; Jürgen Kunze; Brigitte Stöver
Related Documents :
20388556 - A case of kearns-sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mt...
18691436 - Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.
3608216 - Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar faci...
19396836 - Possible new syndrome: left ventricular noncompaction, partial agenesis of the corpus c...
12967616 - Phylogenetic patterns in populations of chilean species of the genus orestias (teleoste...
24757116 - Cognition in corticobasal syndrome and progressive supranuclear palsy: a review.
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2003-06-12
Journal Detail:
Title:  Pediatric radiology     Volume:  33     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  2003 Sep 
Date Detail:
Created Date:  2003-08-15     Completed Date:  2004-01-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  637-40     Citation Subset:  IM    
Affiliation:
Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, Humboldt University, 13353 Berlin, Germany.luitgard.neumann@charite.de
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / pathology*
Brain / pathology*
Child
Humans
Hypertrophy
Intracranial Arteriovenous Malformations / pathology
Leg
Lymphedema / pathology
Magnetic Resonance Imaging*
Male
Neurocutaneous Syndromes / pathology*
Nevus / pathology*
Skin Neoplasms / pathology*
Syndrome

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


Previous Document:  Improved recovery of active recombinant laccase from maize seed.
Next Document:  The impact of bladder shape on the ultrasonographic measurement of bladder volume in children.