Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis

The MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity) syndrome, which is caused by a hemizygous variant in the EIF2S3 gene on chromosome Xp22, is associated with significant morbidity and mortality. Refractory epileptic seizures and glucose dysregulation are characteristic manifestations of the MEHMO syndrome, which can often diminish patients ’ quality of life.

Source: Brain and Development - March 11, 2021 Category: Neurology Authors: Mioko Mori, Tomohiro Kumada, Kenji Inoue, Fumihito Nozaki, Katsuyuki Matsui, Yoshihiro Maruo, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Minoru Shibata Tags: Case Report Source Type: research