A Novel c.826G>A Mutation in a Boy with Allan-Herndon-Dudley Syndrome: Clinical Significance of Thyroid Function Tests in Developmental Delay of Unknown Origin.
10.26815/jkcns.2017.25.3.195
- Author:
Eun Kyung SHIN
1
;
Byung Han PARK
;
Jin Hwa MOON
;
Ja Hye KIM
;
Han Wook YOO
;
Gu Hwan KIM
Author Information
1. Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine, Seoul, Korea. jinhwamoon@hanyang.ac.kr
- Publication Type:Case Report
- Keywords:
Allan-Herndon-Dudley Syndrome;
monocarboxylate transporter 8 (MCT8);
neurodevelopmental delay;
movement disorders;
thyroid hormone;
transporters
- MeSH:
Brain;
Cerebral Palsy;
Diagnosis;
Dystonia;
Humans;
Intellectual Disability;
Male*;
Movement Disorders;
Muscle Hypotonia;
Neurologic Manifestations;
Quadriplegia;
Thyroid Function Tests*;
Thyroid Gland*;
Thyrotropin;
Thyroxine;
Triiodothyronine
- From:
Journal of the Korean Child Neurology Society
2017;25(3):195-199
- CountryRepublic of Korea
- Language:English
-
Abstract:
Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability caused by monocarboxylate transporter 8 (MCT8) deficiency. AHDS manifests in global developmental delay, axial hypotonia, quadriplegia, movement disorders in male patients, and most of them show the delayed or hypomyelination on brain magnetic resonance images. Typically, Triiodothyronine (T3) levels are markedly elevated, thyroid stimulating hormone (TSH) levels are normal or elevated, and free thyroxine (T4) levels are normal or decreased. In AHDS patients, early neurological manifestations are easily mistaken as cerebral palsy with unknown origin. Here, we present a novel c.826G>A mutation in a boy with severe axial hypotonia, limb dystonia and developmental delay. Thyroid function test including TSH, T3, and free T4 levels was the important clue for the diagnosis of AHDS of the patient.
