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
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (11)
- Rodrigues F, "Hypotonic male infant and MCT8 deficiency – a diagnosis to think about", BMC Pediatr, 14, pp.252~ (2014)
- Gika AD, "White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene", Dev Med Child Neurol, 52, pp.475~482 (2010)
- Schwartz CE, "Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8(MCT8)gene", Am J Hum Genet, 77, pp.41~53 (2005)
- Schwartz CE, "The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome", Best Pract Res Clin Endocrinol Metab, 21, pp.307~321 (2007)
- Dumitrescu AM, "A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene", Am J Hum Genet, 74, pp.168~175 (2004)
- Kurian MA, "Genetic disorders of thyroid metabolism and brain development", Dev Med Child Neurol, 56, pp.627~634 (2014)
- Verge CF, "Diiodothyropropionic acid(DITPA)in the treatment of MCT8 deficiency", J Clin Endocrinol Metab, 97, pp.4515~4523 (2012)
- Friesema EC, "Genetics and phenomics of thyroid hormone transport by MCT8", Mol Cell Endocrinol, 322, pp.107~113 (2010)
- Bernal J, "Thyroid hormone resistance syndromes", Endocrinol Nutr, 58, pp.185~196 (2011)
- Bárez-López S, "ffect of triiodothyroacetic acid treatment in Mct8 deficiency: a word of caution", Thyroid, 26, pp.618~626 (2016)
- Kim JH, "Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8mutations", Horm Res Paediatr, 83, pp.288~292 (2015)