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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 195 - 199 (5page)
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초록· 키워드
오류제보하기
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.
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등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
Barez-Lopez S / 2016 / ffect of triiodothyroacetic acid treatment in Mct8 deficiency: a word of caution / Thyroid 26 : 618 ~ 626
Bernal J / 2011 / Thyroid hormone resistance syndromes / Endocrinol Nutr 58 : 185 ~ 196
Dumitrescu AM / 2004 / A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene / Am J Hum Genet 7
Friesema EC / 2010 / Genetics and phenomics of thyroid hormone transport by MCT8 / Mol Cell Endocrinol 322 : 107 ~ 113
Gika AD / 2010 / White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene / Dev Med Child Neurol 52 : 475 ~ 482
Bernal J / 2011 / Thyroid hormone resistance syndromes / Endocrinol Nutr 58 : 185 ~ 196
Dumitrescu AM / 2004 / A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene / Am J Hum Genet 7
Friesema EC / 2010 / Genetics and phenomics of thyroid hormone transport by MCT8 / Mol Cell Endocrinol 322 : 107 ~ 113
Gika AD / 2010 / White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene / Dev Med Child Neurol 52 : 475 ~ 482
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