Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.

ABSTRACT:

Objective

Defects in RARS2 cause cerebellopontine hypoplasia type 6 (pontocerebellar hypoplasia type 6, PCH6, OMIM: #611523), a rare autosomal recessive inherited mitochondrial disease. Here, we report two male patients and their respective family histories.

Methods

We describe the clinical presentation and magnetic resonance imaging (MRI) findings of these patients. Whole-exome sequencing was used to identify the genetic mutations.

Results

One patient showed hypoglycemia, high lactic acid levels (fluctuating from 6.7 to 14.1 mmol/L), and frequent seizures after birth, with progressive atrophy of the cerebrum, cerebellum, and pons. The other patient presented with early infantile developmental and epileptic encephalopathies (EIDEEs) with an initial developmental delay

SUBMITTER: Zhao S 

PROVIDER: S-EPMC10839330 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature