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Abstract

Techniques in Neurosurgery & Neurology

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

Submission: August 02, 2021 Published: September 29, 2021

DOI: 10.31031/TNN.2021.04.000591

ISSN 2637-7748
Volume4 Issue4

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.

Keywords: Methylene tetrahydrofolate reductase; Spastic paraparesis; Leukoencephalopathy

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