Document Detail

Caucasian familial moyamoya syndrome with rare multisystemic malformations.
MedLine Citation:
PMID:  23419477     Owner:  NLM     Status:  In-Data-Review    
Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.
Hipólito Nzwalo; Vera Santos; Cátia Gradil; José Pedro Vieira; Carla Mendonça
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  48     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  240-3     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Inc. All rights reserved.
Neurology Department, Faro Hospital EPE, Faro, Portugal. Electronic address:
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