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KMID : 0391520170250030195
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Journal of the Korean Child Neurology Society
2017 Volume.25 No. 3 p.195 ~ p.199
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llan-Herndon-Dudley Syndrome 환아에서 발견된 novel c.826G>A Mutation
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Shin Eun-Kyung
Park Byung-Han
Moon Jin-Hwa
Kim Ja-Hye
Yoo Han-Wook
Kim Gu-Hwan
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Abstract
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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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KEYWORD
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Allan-Herndon-Dudley Syndrome , monocarboxylate transporter 8 (MCT8) , neurodevelopmental delay , movement disorders , thyroid hormone , transporters
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