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

Satoru Kobayashi, Akira Onuma, Takehiko Inui, Keisuke Wakusawa, Soichiro Tanaka, Keiko Shimojima, Toshiyuki Yamamoto, Kazuhiro Haginoya

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)414-416
Number of pages3
JournalPediatric Neurology
Volume51
Issue number3
DOIs
Publication statusPublished - 2014 Sep

Keywords

  • Allan-Herndon-Dudley syndrome
  • brain MRI
  • cerebral palsy
  • monocarboxylate transporter 8 (MCT8) gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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