1. Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan
- Author
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Hideyuki Iwayama, Tatsushi Tanaka, Kohei Aoyama, Masaharu Moroto, Shinsuke Adachi, Yasuko Fujisawa, Hiroki Matsuura, Kyoko Takano, Haruo Mizuno, and Akihisa Okumura
- Subjects
magnetic resonance imaging ,thyroid hormone transporter ,white matter ,Allan-Herdon-Dudlley syndrome ,reginal analysis ,delayed myelination ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Background: Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transmembrane transporter protein. MCT8 deficiency induces severe X-linked psychomotor retardation. Previous reports have documented delayed myelination in the central white matter (WM) in these patients; however, the regional pattern of myelination has not been fully elucidated. Here, we describe the regional evaluation of myelination in four patients with MCT8 deficiency. We also reviewed the myelination status of previously reported Japanese patients with MCT8 deficiency based on magnetic resonance imaging (MRI).Case Reports: Four patients were genetically diagnosed with MCT8 deficiency at the age of 4–9 months. In infancy, MRI signal of myelination was observed mainly in the cerebellar WM, posterior limb of internal capsule, and the optic radiation. There was progression of myelination with increase in age.Discussion: We identified 36 patients with MCT8 deficiency from 25 families reported from Japan. The available MRI images were obtained at the age of
- Published
- 2021
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