Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.

ABSTRACT:

Purpose

Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may have a prenatal onset.

Methods

A meta-analysis of case reports was performed on individuals with genetically proven MoCD retrieved through a systematic review and in-house search. Cases were categorized as classical or late-onset, based on the time of onset of symptoms. Available cerebral images were scored for the presence of restricted diffusion, pathological signal, subcortical cysts, and atrophy. Estimated onset of each event and the minimal number of events needed to explain the observed imaging abnormalities were deduced by combining

SUBMITTER: Ferreira EA 

PROVIDER: S-EPMC11613691 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature