Case Report: Cerebral folate deficiency caused by FOLR1 variant.

ABSTRACT:

Background

Cerebral folate transport deficiency (CFD) is a rare neurological disease characterized by a deficiency in 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid, with a normal peripheral total folate level. Late infantile-onset refractory seizures, ataxia, movement disorders, hypotonia, developmental delays, and developmental regression characterize CFD. Some patients present with visual and hearing impairments and autism-like manifestations. This study aimed to elucidate the clinical features, diagnostic approach, and therapeutic outcomes in siblings with CFD due to FOLR1 variants, highlighting the importance of early diagnosis and treatment.

Case presentation

We reported the cases of two siblings with CFD caused by a new variant in FOLR1. Th

SUBMITTER: Wang Q 

PROVIDER: S-EPMC11424398 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature