Infantile neuroaxonal dystrophy (INAD): a case report

Case presentation: A previously healthy 3-year-old girl was admitted with a history of loss developmental milestones since 18 months age. So far, only language delay had been noticed. It evolved from then on, frequent falls, incoordination, and truncal hypotonia. Throughout the next year, she lost ability to walk. During same began have episodes tonic seizures, partial control after introduction levetiracetam. When examined, there severe global hypotonia, strabismus nystagmus. investigation, it identified diffuse cerebellar atrophy in MRI. In addition, elevated aspartate aminotransferase (AST)/ alanine (ALT) ratio lactate dehydrogenase (DHL). At moment initial no optic atrophy. The molecular genetic testing showed biallelic pathogenic variants PLA2G6 homozygosis.