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기억력 저하와 보행장애를 주소로 내원한 모계유전당뇨와 난청 환자

Maternally Inherited Diabetes and Deafness Presenting with Memory Impairment and Gait Disturbance

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초록

Maternally inherited diabetes and deafness (MIDD) is a disorder characterized by the occurrence of diabetes mellitus and hearing impairment at a young age, caused by point mutations in mitochondrial DNA. MIDD can be accompanied by various neurological symptoms. In this patient, memory impairment and ataxia were the predominant neurological symptoms. Herein, we report MIDD patients with the m.3243A>G mutation who present with cognitive decline and gait disturbance at the age of 59.

Abstract

Maternally inherited diabetes and deafness (MIDD) is a disorder characterized by the occurrence of diabetes mellitus and hearing impairment at a young age, caused by point mutations in mitochondrial DNA. MIDD can be accompanied by various neurological symptoms. In this patient, memory impairment and ataxia were the predominant neurological symptoms. Herein, we report MIDD patients with the m.3243A>G mutation who present with cognitive decline and gait disturbance at the age of 59.

참고문헌 (10)

  1. Nesbitt V, "The UK MRC mitochondrial disease patient cohort study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management", J Neurol Neurosurg Psychiatry, 84, pp.936~938 (2013)
  2. Ng YS, "Mitochondrial disease in adults : recent advances and future promise", Lancet Neurol, 20, pp.573~584 (2021)
  3. Dabravolski SA, "The role of mitochondrial mutations and chronic inflammation in diabetes", Int J Mol Sci, 22, pp.6733~ (2021)
  4. Yang M, "The mutations and clinical variability in maternally inherited diabetes and deafness : an analysis of 161 patients", Front Endocrinol(Lausanne), 12, pp.728043~ (2021)
  5. Kobayashi Z, "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)", Intern Med, 44, pp.328~331 (2005)
  6. Naing A, "Maternally inherited diabetes and deafness(MIDD) : diagnosis and management", J Diabetes Complications, 28, pp.542~546 (2014)
  7. van den Ouweland J, "Mutation in mitochondrial tRNA Leu(UUR)gene in a large pedigree with maternally transmitted type 2 diabetes and deafness", Nat Genet, 1, pp.368~371 (1992)
  8. Murphy R, "Clinical features, diagnosis and management of maternallyinherited diabetes and deafness(MIDD)associated with the 3243A>G mitochondrial point mutation", Diabet Med, 25, pp.383~399 (2008)
  9. Ogun O, "Pearls & oy-sters : maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy", Neurology, 79, pp.e54~e56 (2012)
  10. Chin J, "Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene:a molecular diagnostic laboratory perspective", Mitochondrion, 17, pp.34~41 (2014)

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