Rohan R Mahale, Jyothi Gautam, Gautam Arunachal, Sandhya Alappati, Nibu Varghese, Jennifer Kovoor, Pooja Mailankody, Hansashree Padmanabha, Mathuranath Pavagada
MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, progressing to coma and death if untreated whereas in childhood onset it causes developmental delay, seizures, psychiatric disturbances, spastic gait, and ataxia. We report a 10-year-old girl with rapidly progressive spastic paraplegia requiring wheelchair ambulation within 3 months of symptom onset with behavioral disturbances...
April 2021: Journal of Pediatric Neurosciences