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Cerebellar vermis hypoplasia and bilateral basal ganglia calcification in maternally inherited diabetes and deafness

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Abstract

Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA. It affects up to 1% of patients with diabetes but is often unrecognized by physicians. We report a case of MIDD in a 29-year-old man with coexisting imaging of cerebellar vermis hypoplasia and bilateral basal ganglia calcification.

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Data Availability

The data that support the findings of this case are available from the corresponding author on reasonable request.

References

  1. Van den Ouweland JMW, Lemkes H, Ruitenbeek W et al (1992) Mutation in mitochondrial tRNA Leu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness[J]. Nat Genet 1(5):368–371

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  2. Murphy R, Turnbull DM, Walker M et al (2008) Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A> G mitochondrial point mutation[J]. Diabet Med 25(4):383–399

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Funding

This research was funded by the Science and Technology Research Foundation of Deyang City in China (No. 2021SZZ065).

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Authors and Affiliations

  1. Department of Neurology, People’s Hospital of Deyang City, No.173, North Taishan Road, Deyang, 618000, Sichuan Province, People’s Republic of China

    Jie Li & Ni He

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  1. Jie Li
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  2. Ni He
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Contributions

Dr. Li: drafted and revised the manuscript; Dr. He: drafted and revised the manuscript for intellectual content.

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Correspondence to Ni He.

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Li, J., He, N. Cerebellar vermis hypoplasia and bilateral basal ganglia calcification in maternally inherited diabetes and deafness. Neurol Sci 44, 1469–1470 (2023). https://doi.org/10.1007/s10072-022-06529-3

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  • DOI: https://doi.org/10.1007/s10072-022-06529-3

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