Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report.

ABSTRACT:

Background

Microcephaly, epilepsy, and diabetes syndrome (MEDS) is a rare syndromic form of monogenic diabetes caused by bi-allelic loss of function mutations in IER3IP1. In vitro studies have shown that loss of IER31P leads to apoptosis in both neurons and pancreatic β-cells. Simultaneous management of seizures and diabetes is challenging in patients with MEDS. We present the challenges and successes in the use of ketogenic diet in an infant with insulinopenic diabetes.

Case presentation

Our term female proband presented at 2 months of age with new onset multifocal seizures followed by the onset of infantile spasms (IS) at 4 months of age. An epilepsy gene panel identified bi-allelic variants, c.239T > G (p.Leu80*) and c.2T > A (initiator codon), in IER3IP1 that were subseq

SUBMITTER: Zegarra WA 

PROVIDER: S-EPMC10492392 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature