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

Irene Valenzuela, Susana Boronat, Elena Martínez-Sáez, María Clemente, Ángel Sánchez-Montañez, Francina Munell, Antonio Carrascosa, Alfons Macaya

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

Abstract

© 2017 Elsevier Masson SAS 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.
Original languageEnglish
Pages (from-to)517-520
JournalEuropean Journal of Medical Genetics
Volume60
Issue number10
DOIs
Publication statusPublished - 1 Oct 2017

Keywords

  • IER3IP1
  • Microcephaly
  • Neonatal diabetes mellitus
  • Symplified gyration

Fingerprint

Dive into the research topics of 'Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature'. Together they form a unique fingerprint.

Cite this