Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.

Abstract

BACKGROUND:

Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter 8 gene (MCT8). The long-term prognosis of Allan-Herndon-Dudley syndrome remains uncertain.

PATIENTS:

We describe the clinical features and course of four adults in a family with Allan-Herndon-Dudley syndrome with athetoid type cerebral palsy.

RESULTS:

We identified an MCT8 gene mutation in this family. Two of the four affected family members died at 32 and 24 years of age.

CONCLUSIONS:

Individuals with Allan-Herndon-Dudley syndrome are at increased risk for recurrent infection, such as aspiration pneumonia. These individuals require careful management with consideration for this increased risk of recurrent infection.

• Authors: Satoru Kobayashi, Akira Onuma, Takehiko Inui, Keisuke Wakusawa, Soichiro Tanaka, Keiko Shimojima, Toshiyuki Yamamoto, Kazuhiro Haginoya
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 51 Issue 3 Pg. 414-6 (Sep 2014) ISSN: 1873-5150 [Electronic] United States
• PMID: 25160547 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 Elsevier Inc. All rights reserved.

Chemical References

• Monocarboxylic Acid Transporters
• SLC16A2 protein, human
• Symporters

Topics

• Adult
• Brain (pathology)
• Family
• Fatal Outcome
• Female
• Humans
• Magnetic Resonance Imaging
• Male
• Mental Retardation, X-Linked (genetics, pathology, physiopathology)
• Monocarboxylic Acid Transporters (genetics)
• Muscle Hypotonia (genetics, pathology, physiopathology)
• Muscular Atrophy (genetics, pathology, physiopathology)
• Mutation
• Pedigree
• Symporters
• Young Adult