A case of maternally inherited diabetes with deafness (MIDD) occurring at an advanced age

Takeuchi, Jun; Tashiro, Jun; Nakagaki, Osamu; Yoshida, Masahiro; Kamoshima, Hikaru; Kenji, Oku; Yoshioka, Narihito

doi:10.3143/geriatrics.45.95

Cited by 2 publications

(1 citation statement)

References 13 publications

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“…Interestingly, a 79-year-old woman (Higashikata et al, 2001) and a 69-year-old woman (Takeuchi et al, 2008) with the mtDNA A3243G mutation have also been described, but they presented without stroke and lactic acidosis. Whether recurrent TIA was related to MELAS in this patient deserves further discussion.…”

Section: Discussionmentioning

confidence: 99%

MELAS as a cause of stroke in the elderly

et al. 2009

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Section: Discussionmentioning

confidence: 99%

MELAS as a cause of stroke in the elderly

et al. 2009

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Late-Onset Melas with Midd: An Uncommon Age of Presentation

Goel

Szczepanczyk

Mirza

2018

AACE Clinical Case Reports

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Objective: Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes caused by a mutation in mitochondrial DNA, usually a point mutation at position 3243 in the leucine tRNA gene. This same mutation can cause a rare but severe syndrome called mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).Methods: We describe a case of MIDD with acute mitochondrial decompensation that progressed to MELAS.Results: A 63-year-old male with MIDD and a history of hypoglycemic seizures presented for evaluation of altered mental status with fever, tachycardia, hypotension, and somnolence. His history was also significant for deafness and cochlear implants. The physical exam results were consistent with mild, proximal muscle wasting. The initial workup was concerning for sepsis and a urinary tract infection. Laboratory evaluation revealed lactic acidosis with normal white cell count, liver enzymes, and ammonia level. After fluid resuscitation and 4 days of broad-spectrum antibiotics, his mental status improved. Then he became obtunded again, and a stroke alert was called. Stroke workup results, including imaging studies, were negative, ammonia level was high, and he developed transaminitis. There was a concern for carnitine deficiency given the underlying mitochondrial disease, valproic acid use, and sepsis. He stabilized for a few days but then developed focal left-arm paresis. Stroke workup again was negative and diagnosis of MELAS was considered. Arginine supplementation was initiated with improvement of the focal weakness. He was discharged to rehabilitation.Conclusion: This case highlights that MIDD and MELAS are a spectrum of the same disease process, and emphasizes the importance of recognizing MELAS as a rare presentation in MIDD patients irrespective of age. (AACE Clinical Case Rep. 2018;4:e228-e231) Abbreviations: MELAS = mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; MIDD = maternally inherited diabetes and deafness

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A case of maternally inherited diabetes with deafness (MIDD) occurring at an advanced age

Cited by 2 publications

References 13 publications

MELAS as a cause of stroke in the elderly

MELAS as a cause of stroke in the elderly

Late-Onset Melas with Midd: An Uncommon Age of Presentation

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