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

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.
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Valenzuela I, Boronat S, Martínez-Sáez E, Clemente M, Sánchez-Montañez Á, Munell F, Carrascosa A, Macaya A,


Valenzuela I, Boronat S, Martínez-Sáez E, Clemente M, Sánchez-Montañez Á, Munell F, Carrascosa A, Macaya A, (click to view)

Valenzuela I, Boronat S, Martínez-Sáez E, Clemente M, Sánchez-Montañez Á, Munell F, Carrascosa A, Macaya A,

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European journal of medical genetics 2017 07 12() pii S1769-7212(17)30172-6
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.

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