Document Detail


Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.
MedLine Citation:
PMID:  14984906     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a 14-year-old male, born to consanguineous parents, with microcephaly, intracranial calcification, severe mental retardation, cataracts, optic atrophy, pigmentary retinopathy, contractures, scoliosis, and failure to thrive. His brain imaging revealed extensive basal ganglia calcifications. He has normal ultraviolet sensitivity. These features are consistent with the autosomal recessive cerebro-oculo-facio-skeletal syndrome. In addition, he has severe muscle weakness with end-stage muscle changes on biopsy. There have been few reports of muscle involvement in cerebro-oculo-facio-skeletal syndrome, and this is the first time it has been described in a cerebro-oculo-facio-skeletal patient with normal ultraviolet sensitivity. This case extends the extensive phenotypic similarities between cerebro-oculo-facio-skeletal syndrome patients with and without abnormal ultraviolet sensitivity, and highlights the cerebro-oculo-facio-skeletal syndrome in the differential diagnosis of congenital muscular dystrophies.
Authors:
Cheryl Longman; Caroline A Sewry; Francesco Muntoni
Related Documents :
1633646 - On the variable expression of the brachmann-de lange syndrome.
9147896 - Size of 22q deletions in four previously reported patients with conotruncal anomaly fac...
242126 - A rare type of low birthweight dwarfism: the dubowitz syndrome.
7424976 - Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe menta...
498026 - Peutz-jeghers syndrome with intestinal carcinoma: report of the association in one family.
3972226 - Epithelioid leiomyosarcoma originating in a hamartomatous polyp from a patient with peu...
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  30     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2004 Feb 
Date Detail:
Created Date:  2004-02-26     Completed Date:  2004-04-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  125-8     Citation Subset:  IM    
Affiliation:
Dubowitz Neuromuscular Centre, Hammersmith Campus, Imperial College, London, W12 ONN, UK.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Cockayne Syndrome / complications,  pathology*
Humans
Male
Mental Retardation / complications,  pathology
Microcephaly / complications,  pathology
Muscular Atrophy / complications,  pathology
Muscular Dystrophy, Facioscapulohumeral / complications,  pathology*

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


Previous Document:  Tick paralysis presenting in an urban environment.
Next Document:  Systemic lymphoma mimicking acute disseminated encephalomyelitis.