P393: Expanding the molecular and clinical landscape of MEHMO syndrome: A newly identified EIF2S3 missense variant associated with severe brain involvement

Genetics in Medicine Open 2026 Open access

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Authors: Rebecca A. Gibson, Molly E. Kuo, Clara Cornelia Hildebrandt, Shivani Shah, Arti Pandya
DOI: 10.1016/j.gimo.2026.103887
Cited by: 0

Abstract

There is currently no cure for MEHMO syndrome, and management is multidisciplinary. Multiple subspecialties co-managed this patient. Pulmonology followed for ventilator management with waxing and waning respiratory support requirements and discussions of possible tracheostomy placement. Cardiology performed transcatheter PDA closure. Nephrology managed hypernatremia. Endocrinology was consulted for hypoglycemia, and workup revealed congenital hypothyroidism, diabetes insipidus, growth hormone deficiency, and hypocortisolemia.

Fields of Study & Subjects

Genomics and Rare Diseases Immunodeficiency and Autoimmune Disorders Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103887–103887
Publication date
1 January 2026
Language
EN