Allan-Herndon-Dudley syndrome

Indian J Pediatr. 2008 Apr;75(4):402-4.

Abstract

Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked disorder caused by mutation in the gene encoding the monocarboxylate transporter-8. Abnormal transport function is reflected by elevated free T3 and decreased free T4 levels along with clinical features characterized by neurological abnormalities including global developmental delay, central hypotonia, rotatory nystagmus, impaired hearing, spasticity and contractures of joints. We report a child with classical clinical features along with confirmatory deranged thyroid levels in blood.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Child
  • Developmental Disabilities / diagnosis
  • Humans
  • Male
  • Mental Retardation, X-Linked / diagnosis*
  • Monocarboxylic Acid Transporters / genetics*
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / physiopathology
  • Prognosis
  • Syndrome
  • Thyroid Hormones / metabolism*

Substances

  • Monocarboxylic Acid Transporters
  • Thyroid Hormones