Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations

Area of Science:

• Neuroscience
• Genetics
• Pediatric Neurology

Background:

• Infantile neuroaxonal dystrophy (INAD) is a rare, severe, recessive neurodegenerative disorder.
• It presents before age three with hypotonia, motor deficits, cognitive decline, and vision loss.

Observation:

• This study describes two challenging INAD cases with atypical presentations.
• Diagnostic difficulties arose from misleading clinical findings.

Findings:

• Genetic analysis identified a novel C.2370 T>G (p. Y790X) mutation in the PLA2G6 gene (NM_001349864).
• This specific mutation has been previously associated with INAD, confirming its pathogenic role.

Implications:

• Accurate genetic diagnosis of INAD is crucial for affected families.
• Understanding PLA2G6 mutations refines diagnostic strategies for neurodegenerative disorders.