Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 60, Issue 10, Pages 517-520Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2017.07.007
Keywords
Microcephaly; Symplified gyration; Neonatal diabetes mellitus; IER3IP1
Categories
Ask authors/readers for more resources
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.233T > 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. (C) 2017 Elsevier Masson SAS. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available