Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature

Eur J Med Genet. 2017 Oct;60(10):517-520. doi: 10.1016/j.ejmg.2017.07.007. Epub 2017 Jul 12.

Abstract

Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant presenting with lethargy at age five weeks and clinical findings of persistent hyperglycaemia and microcephaly with simplified gyration, suggestive of MEDS. The diagnosis was confirmed by the detection of a known c.233 T > C mutation in the IER3IP1 gene. Only eight cases of MEDS have been reported in the literature. We reviewed these with the aim of better delineating their clinical manifestations, which should allow earlier and more accurate diagnosis and genetic counseling.

Keywords: IER3IP1; Microcephaly; Neonatal diabetes mellitus; Symplified gyration.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Carrier Proteins / genetics*
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / genetics*
  • Epilepsy / diagnosis
  • Epilepsy / genetics*
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Point Mutation
  • Syndrome

Substances

  • Carrier Proteins
  • IER3IP1 protein, human
  • Membrane Proteins

Supplementary concepts

  • Diabetes Mellitus, Permanent Neonatal
  • Microcephaly with Simplified Gyral Pattern