A Treatable Leukodystrophy Presenting as Familial Spastic Paraparesis with Homozygous Variation in MTHFR Gene- A Case Report

Abstract

The MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The Clinical presentation can vary from asymptomatic to severe neurological manifestations with pyramidal, cerebellar signs, dementia, and epileptic seizures. We report a 23-year-old male with familial gradually progressive spastic paraparesis with seizures and poor scholastic performance. Patient was diagnosed with MTHFR enzyme deficiency presenting as leukodystrophy with spastic paraparesis, which is treatable on early diagnosis.