TY - JOUR
T1 - Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature
AU - Valenzuela, Irene
AU - Boronat, Susana
AU - Martínez-Sáez, Elena
AU - Clemente, María
AU - Sánchez-Montañez, Ángel
AU - Munell, Francina
AU - Carrascosa, Antonio
AU - Macaya, Alfons
PY - 2017/10/1
Y1 - 2017/10/1
N2 - © 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.
AB - © 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.
KW - IER3IP1
KW - Microcephaly
KW - Neonatal diabetes mellitus
KW - Symplified gyration
U2 - 10.1016/j.ejmg.2017.07.007
DO - 10.1016/j.ejmg.2017.07.007
M3 - Article
VL - 60
SP - 517
EP - 520
IS - 10
ER -