Document Detail

Pallister-Mosaic syndrome and neuronal migration disorder.
MedLine Citation:
PMID:  12850516     Owner:  NLM     Status:  MEDLINE    
We diagnosed Pallister-Mosaic syndrome (PMS) in a 4-month-old female infant. In addition to the presence of non-specific anomalies, involving anorectal, finger and ear anomalies, characteristic cranio-facial features and irregular skin lesions that appeared after age 2 months suggested the possibility of genetic mosaicism, PMS in particular. Fluorescence in situ hybridization technique revealed an extra copy of chromosome 12p; i (12p) in 30% of cultured skin fibroblasts. When focal skin lesions accompany neurodevelopmental disabilities in early infancy, genetic analysis for mosaicism should be considered for differential diagnosis. Significantly, we describe several phenotypic features and neuroimaging findings of the PMS in the present case, which have not been described in previous reports. The neuroimaging abnormalities we encountered, such as polymicrogyria, speculating congenital brain anomaly, may explain the severe motor and intellectual disabilities of PMS.
Masao Adachi; Rie Urata; Reiko Takashima; Hajime Miyamoto; Shuichi Tsuneishi; Hajime Nakamura
Related Documents :
11032716 - Management of severe blistering disorders.
8879086 - Dermatoglyphics in offspring of women given gamma globulin prophylaxis during pregnancy.
19401826 - Severe bullous skin lesions associated with chikungunya virus infection in small infants.
1006156 - Prevalence of antral and fundic gastritis in a randomly selected group of an estonian r...
7510126 - Previewing and the therapeutic use of metaphor.
23519946 - Do caesarean section rates 'catch-up'? evidence from 14 european countries.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Brain & development     Volume:  25     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-07-09     Completed Date:  2003-09-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  357-61     Citation Subset:  IM    
Department of Pediatric Neurology, Kobe Medical Center for the Persons with Severe Motor and Intellectual Disabilities (SMID), 14-1, Nakaichiriyama, Shimo-tanigami, Yamada-cho, Kita-ku, Kobe, Hyogo 651-1102, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Brain Mapping
Chromosome Aberrations
Chromosomes, Human, Pair 12*
Ear / abnormalities
Fibroblasts / metabolism,  pathology
In Situ Hybridization, Fluorescence / methods
Magnetic Resonance Imaging
Mosaicism / genetics*,  pathology,  physiopathology
Pick Disease of the Brain / genetics*,  pathology*
Skin Diseases / diagnosis,  genetics*,  physiopathology

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

Previous Document:  Re-evaluation of short latency somatosensory evoked potentials (P13, P14 and N18) for brainstem func...
Next Document:  A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecu...