Allan-Herndon-Dudley syndrome.
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.
Verma
Sanjay
S
Department of Pediatrics, University College of Medical Science and Guru Teg Bahadur Hospital, Delhi, India. Sanjay6verma@yahoo.com
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis*; D027501:Monocarboxylic Acid Transporters / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics / Q000503:physiopathology; D011379:Prognosis; D013577:Syndrome; D013963:Thyroid Hormones / Q000378:metabolism*
D027501:Monocarboxylic Acid Transporters; D013963:Thyroid Hormones