A Rare Case of PLA2G6 – Infantile Neuroaxonal Dystrophy Type
Keywords:
Group VI Phospholipases A2, Neurodegenerative Diseases, Glycerophospholipids, Muscle Hypotonia, Infantile neuroaxonal dystrophyAbstract
Background: The term PLA2G2-associated neurodegeneration (PLAN) refers to a range of neurodegenerative illnesses in which neurons experience oxidative stress and neuroinflammation as a result of phospholipase A2 enzyme deficiencies and mutations of the PLA2G2 gene. INAD is caused by mutation of the phospholipase A2 group VI (PLA2G6)
gene, mapped to chromosome 22q13.1
Case summary: A 6-year-old female patient with progressive neuroregression was brought
to the OPD with chief complaints of developmental delay, with recurrent respiratory
infections. With spasticity.
Conclusion: For pediatrics patients who show with early rapid cognitive decline, motor regression, and axial hypotonia, INAD is a pathology/differential diagnosis that should be taken into consideration. The current findings on those mutations suggest that genetic counselling and early diagnosis could benefit from screening for PLA2G6 gene variants.Additionally, biopsy analysis could help prevent high-risk pregnancies.
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