A Case of Lateral Meningocele Syndrome without Lateral Meningoceles.

ABSTRACT:

Introduction

Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is caused by pathogenic variants in exon 33 of NOTCH3. Variants in this final exon of NOTCH3 interrupt the regulatory PEST domain, leading to enhanced NOTCH3 signaling due to prolonged cellular half-life. Individuals with LMS are expected to have multiple lateral meningoceles, developmental delay, neonatal hypotonia, dysmorphic facial features, and feeding difficulties.

Case presentation

We report an 8-year-old male with a history of autism, feeding difficulties, developmental delay, severe intellectual disability, and self-injurious behavior. Genetic testing revealed a NOTCH3 c.6663C>G (p.Y2221*) pathogenic variant in exon 33, consistent with a diagnosis of LMS. A fol

SUBMITTER: Rubadeux D 

PROVIDER: S-EPMC11305689 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature