Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan
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 pat...
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doaj-fd5dc365cd194056a2de83514ecce1282021-07-15T09:07:34ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-07-011210.3389/fneur.2021.657820657820Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in JapanHideyuki Iwayama0Tatsushi Tanaka1Kohei Aoyama2Masaharu Moroto3Shinsuke Adachi4Shinsuke Adachi5Yasuko Fujisawa6Hiroki Matsuura7Kyoko Takano8Haruo Mizuno9Akihisa Okumura10Department of Pediatrics, School of Medicine, Aichi Medical University, Nagakute, JapanDepartment of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, JapanDepartment of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, JapanDepartment of Pediatrics, Fukuchiyama City Hospital, Fukuchiyama, JapanDepartment of Pediatrics, Fukuchiyama City Hospital, Fukuchiyama, JapanAdachi Pediatric Clinic, Fukuchiyama, JapanDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, JapanDepartment of Pediatrics, Shinshu University School of Medicine, Nagano, JapanCenter for Medical Genetics, Shinshu University Hospital, Matsumoto, JapanDepartment of Pediatrics, Fujita Health University School of Medicine, Toyoake, JapanDepartment of Pediatrics, School of Medicine, Aichi Medical University, Nagakute, JapanBackground: 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 <2 years in 13 patients, between 2 and 4 years in six patients, between 4 and 6 years in three patients, and at ≥6 years in eight patients. Cerebellar WM, posterior limb of internal capsule, and optic radiation showed MRI signal of myelination by the age of 2 years, followed by centrum semiovale and corpus callosum by the age of 4 years. Most regions except for deep anterior WM showed MRI signal of myelination at the age of 6 years.Conclusion: The sequential pattern of myelination in patients with MCT8 deficiency was largely similar to that in normal children; however, delayed myelination of the deep anterior WM was a remarkable finding. Further studies are required to characterize the imaging features of patients with MCT8 deficiency.https://www.frontiersin.org/articles/10.3389/fneur.2021.657820/fullmagnetic resonance imagingthyroid hormone transporterwhite matterAllan-Herdon-Dudlley syndromereginal analysisdelayed myelination |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Hideyuki Iwayama Tatsushi Tanaka Kohei Aoyama Masaharu Moroto Shinsuke Adachi Shinsuke Adachi Yasuko Fujisawa Hiroki Matsuura Kyoko Takano Haruo Mizuno Akihisa Okumura |
spellingShingle |
Hideyuki Iwayama Tatsushi Tanaka Kohei Aoyama Masaharu Moroto Shinsuke Adachi Shinsuke Adachi Yasuko Fujisawa Hiroki Matsuura Kyoko Takano Haruo Mizuno Akihisa Okumura Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan Frontiers in Neurology magnetic resonance imaging thyroid hormone transporter white matter Allan-Herdon-Dudlley syndrome reginal analysis delayed myelination |
author_facet |
Hideyuki Iwayama Tatsushi Tanaka Kohei Aoyama Masaharu Moroto Shinsuke Adachi Shinsuke Adachi Yasuko Fujisawa Hiroki Matsuura Kyoko Takano Haruo Mizuno Akihisa Okumura |
author_sort |
Hideyuki Iwayama |
title |
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan |
title_short |
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan |
title_full |
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan |
title_fullStr |
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan |
title_full_unstemmed |
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan |
title_sort |
regional difference in myelination in monocarboxylate transporter 8 deficiency: case reports and literature review of cases in japan |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Neurology |
issn |
1664-2295 |
publishDate |
2021-07-01 |
description |
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 <2 years in 13 patients, between 2 and 4 years in six patients, between 4 and 6 years in three patients, and at ≥6 years in eight patients. Cerebellar WM, posterior limb of internal capsule, and optic radiation showed MRI signal of myelination by the age of 2 years, followed by centrum semiovale and corpus callosum by the age of 4 years. Most regions except for deep anterior WM showed MRI signal of myelination at the age of 6 years.Conclusion: The sequential pattern of myelination in patients with MCT8 deficiency was largely similar to that in normal children; however, delayed myelination of the deep anterior WM was a remarkable finding. Further studies are required to characterize the imaging features of patients with MCT8 deficiency. |
topic |
magnetic resonance imaging thyroid hormone transporter white matter Allan-Herdon-Dudlley syndrome reginal analysis delayed myelination |
url |
https://www.frontiersin.org/articles/10.3389/fneur.2021.657820/full |
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