Document Detail

Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature.
MedLine Citation:
PMID:  24268987     Owner:  NLM     Status:  Publisher    
Introduction: Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile. In most of the cases reported so far, brain magnetic resonance imaging showed delayed myelination of the central white matter and this finding greatly affects the diagnosis of the syndrome. Case report: We present a new case studied with magnetic resonance imaging and spectroscopy and we reviewed all the articles published between 2004 and 2012 containing information on brain neuroimaging in this syndrome. An Italian boy, showing a classical phenotype of the syndrome, was diagnosed at 17months of age. Genetic analysis revealed a new frameshift mutation of the monocarboxylate transporter 8 gene. His brain magnetic resonance imaging and spectroscopy, performed at the age of 14months, were normal. Discussion: Among the 33 cases reported in the literature, 3 cases had normal neuroimaging and in 7 of 14 cases, having a longitudinal follow-up, the initial finding of delayed myelination gradually improved. Our case and the review of the pertinent literature suggest that Allan-Herndon-Dudley syndrome should be suspected in males with the typical neurological and thyroid profile, even in cases with normal brain myelination.
Sara Azzolini; Margherita Nosadini; Marta Balzarin; Stefano Sartori; Agnese Suppiej; Rodica Mardari; Nella Augusta Greggio; Irene Toldo
Related Documents :
977377 - Cricopharyngeal achalasia associated with congenital suprabulbar paresis.
410647 - Spontaneous rupture of a congenital diverticulum of the right ventricle in a 1-month-ol...
9623037 - Harlequin baby: a case report.
12560767 - Congenital oesophageal stenosis: an atypical presentation in a young woman.
7384527 - Intussusception complicated by distal perforation of the colon.
2383197 - Ocular and associated systemic findings in suspected child abuse. a necropsy study.
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-11-19
Journal Detail:
Title:  Brain & development     Volume:  -     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2013 Nov 
Date Detail:
Created Date:  2013-11-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Pediatric Endocrinology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

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

Previous Document:  Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013.
Next Document:  Genotype-phenotype association between HLA and carbamazepine-induced hypersensitivity reactions: Str...