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Case Reports
. 2021 Aug;88(8):785-792.
doi: 10.1007/s12098-020-03567-7. Epub 2021 Jan 7.

Neonatal Diabetes Mellitus: Novel Mutations

Sapna Nayak  1 , Aditya Narayan Sarangi  2 , Saroj Kumar Sahoo  1 , Pragya Mangla  1 , Manoranjan Tripathy  1 , Sudha Rao  3 , Suchit Gupta  1 , Vimal Kumar Paliwal  4 , Siddhnath Sudhanshu  1 , Chaitra Ravi  1 , Kriti Joshi  1 , Vijayalakshmi Bhatia  5 , Eesh Bhatia  1
Affiliations
Case Reports

Neonatal Diabetes Mellitus: Novel Mutations

Sapna Nayak et al. Indian J Pediatr. 2021 Aug.

Erratum in

  • Correction to: Neonatal Diabetes Mellitus: Novel Mutations.
    Nayak S, Sarangi AN, Sahoo SK, Mangla P, Tripathy M, Rao S, Gupta S, Paliwal VK, Sudhanshu S, Ravi C, Joshi K, Bhatia V, Bhatia E. Nayak S, et al. Indian J Pediatr. 2021 Aug;88(8):847. doi: 10.1007/s12098-021-03769-7. Indian J Pediatr. 2021. PMID: 33914270 No abstract available.

Abstract

Objective: To describe the spectrum of neonatal diabetes mellitus (NDM), document new mutations, and review published Indian literature on the etiology of NDM.

Methods: Retrospective analysis of the clinical and genetic profile of 12 NDM patients.

Results: Eight patients presented with NDM before the age of 6 mo. Three other patients, including 2 siblings presented in later part of infancy. An additional patient was diagnosed at age 5 y with the same etiology as her infant sibling. Four patients had transient diabetes [TNDM:1 each with a mutation in KCNJ11 and INS gene, 2 with ABCC8 mutation], 7 had permanent diabetes [PNDM: 2 siblings with complete glucokinase deficiency, 2 siblings with thiamine responsive megaloblastic anemia (TRMA), 1 with Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome and 2 with Wolcott Rallison syndrome, (WRS)]. Four patients had 5 novel mutations. Genetic etiology could not be established in 1 patient with features of insulin resistance. Poorly controlled blood glucose in the TRMA patient led to hyperglycemia-induced hemichorea-hemiballismus, a rare manifestation in children.

Conclusions: The authors describe 5 novel mutations, in the EIF2AK3, ABCC8, and GCK genes, a homozygous mutation at the ABCC8 locus presenting as TNDM, an obscure phenotype of the GCK gene mutation, and hyperglycemia-induced hemichorea-hemiballismus in a patient with TRMA. In India, PNDM is most commonly due to WRS similar to Middle Eastern countries with high consanguinity rates.

Keywords: ABCC8; Hyperglycemia-induced hemichorea-hemiballismus; Insulin; KCNJ11; Neonatal diabetes; Sulphonylurea; Wolcott-Rallison syndrome.

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References

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