A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI)

被引：13

作者：

Kobayashi, Z ^{[1
]}

Tsunemi, T ^{[1
]}

Miake, H ^{[1
]}

Tanaka, S ^{[1
]}

Watabiki, S ^{[1
]}

Morokuma, Y ^{[1
]}

机构：

[1] Musashino Red Cross Hosp, Dept Neurol, Musashino, Tokyo 1808610, Japan

来源：

INTERNAL MEDICINE | 2005年 / 44卷 / 04期

关键词：

maternally inherited diabetes and deafness (MIDD); mitochondrial diabetes; mitochondrial disease;

D O I：

10.2169/internalmedicine.44.328

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI) were reported. The proband had slowly progressive cerebellar ataxia and her son had depression. Mitochondrial DNA purified from their leucocytes had the heteroplasmic point mutation at position 3243 (A -> G). Involvement of the central nervous system should be considered in MIDD as well as in other mitochondrial diseases.

引用

页码：328 / 331

页数：4

共 6 条

[1] Atrophy progression on autofluorescence in patients with Maternally Inherited Diabetes and Deafness (MIDD)
Esposti, Simona Degli
Cilkova, Marketa
Kurt, Rengin Aslihan
Keane, Pearse A.
Sim, Dawn
Egan, Catherine A.
Tufail, Adnan
[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
[2] Severe atrophy of the cerebellum on magnetic resonance imaging in a Chinese patient with maternally inherited diabetes and deafness with the A3243G mitochondrial DNA mutation
Dai, Zhi-juan
Wu, Chao-ming
Qian, Yan-ying
Jin, Jian
Wang, Liang
Ruan, Lu-ya
[J]. INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES, 2015, 35 (04) : 588 - 592
[3] Severe atrophy of the cerebellum on magnetic resonance imaging in a Chinese patient with maternally inherited diabetes and deafness with the A3243G mitochondrial DNA mutation
Zhi-juan Dai
Chao-ming Wu
Yan-ying Qian
Jian Jin
Liang Wang
Lu-ya Ruan
[J]. International Journal of Diabetes in Developing Countries, 2015, 35 : 588 - 592
[4] Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation
Oishi, Noriko
Kubota, Daiki
Nakamoto, Kenji
Takeda, Yukito
Hayashi, Mika
Gocho, Kiyoko
Yamaki, Kunihiko
Igarashi, Tsutomu
Takahashi, Hiroshi
Kameya, Shuhei
[J]. OPHTHALMIC GENETICS, 2021, 42 (03) : 304 - 311
[5] Phosphorus-31 Magnetic Resonance Spectroscopy of Skeletal Muscle in Maternally Inherited Diabetes and Deafness A3243G Mitochondrial Mutation Carriers
van Elderen, Saskia G. C.
Doornbos, Joost
van Essen, Einar H. R.
Lemkes, Herman H. P. J.
Maassen, J. Antonie
Smit, Jan W. A.
de Roos, Albert
[J]. JOURNAL OF MAGNETIC RESONANCE IMAGING, 2009, 29 (01) : 127 - 131
[6] Brainstem atrophy quantification by magnetic resonance imaging (MRI) is powerful to differentiate idiopathic Parkinson's disease (IPD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP)
Rolland, Y
Bruneau, B
Verin, M
Payan, C
Bensimon, G
[J]. MOVEMENT DISORDERS, 2004, 19 : S371 - S371

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