Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder.
• It typically presents with psychomotor regression and cerebellar atrophy in toddlers.
• Basal ganglia iron deposition on MRI is a common but not universal finding.

Purpose of the Study:

• To highlight the importance of considering INAD in toddlers with specific neurological symptoms.
• To emphasize the role of molecular genetic testing in diagnosing INAD.
• To underscore the necessity of early diagnosis for genetic counseling and supportive care.

Main Methods:

• Review of clinical presentations of INAD.
• Analysis of neuroimaging findings, including MRI.
• Discussion of molecular genetic testing for PLA2G6 gene mutations.

Main Results:

• INAD should be suspected even without basal ganglia iron deposition on initial MRI.
• Molecular genetic testing of PLA2G6 confirms the diagnosis.
• Timely diagnosis facilitates genetic counseling and multidisciplinary care.

Conclusions:

• Early recognition of INAD is critical for affected children.
• PLA2G6 gene testing is essential for definitive INAD diagnosis.
• Integrated care approaches improve outcomes for INAD patients.