DOI: 10.1002/ccr3.73294 ISSN: 2050-0904
Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder
K. Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M. Geethika, Lakshya Nehal SamineniABSTRACT
Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary supportive care.