NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report.

ABSTRACT:

Background

The neurite extension and migration factor (NEXMIF) gene encodes the neurite growth-directed factor whose main function is to play a role in neurite extension and migration for nerve development. It is associated with X-linked intellectual disability 98 and X-linked dominant inheritance, and its clinical manifestations mainly include intellectual disability, autistic behavior, poor development, dysmorphic features, gastroesophageal reflux, renal infection, and early seizures. Few cases of patients with NEXMIF variants had been reported, and to date, no deaths have been reported to our knowledge.

Case description

We present a clinical report of a female child who had a history of epilepsy, and was diagnosed with multiple organ failure (MOF), sepsis, hemophagocytic

SUBMITTER: Wang L 

PROVIDER: S-EPMC10326766 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature