Case 1: A 20-year-old female presented with progressive stiffening of both lower limbs with a history of frequent falls, a phase of transient cognitive decline and seizure episodes. Examination revealed weakness of all 4 limbs, exaggerated deep tendon reflexes, ataxic gait and impaired bilateral finger-nose test. Serial neuroimaging and autoimmune panels were unrevealing. Genetic testing revealed MTHFR and BTD gene defects. Treatment with oral biotin, folinic acid and betaine supplementation showed significantly improved symptoms.
Case 2: A 20-year-old female presented with progressive weakness of all 4 limbs, unsteady gait with impaired hearing and vision. Examination revealed facial myokymia, horizontal gaze restriction with slow saccades (Round-The-House sign+), quadriparesis, mute deep tendon reflexes, spasticity in both lower limbs, hypotonic upper limbs and cerebellar dysfunction. Neuroimaging showed spinal and cerebellar atrophy. Genetic testing revealed BTD and KIF5A gene defects, indicating biotidinase deficiency complicated by spastic paraplegia 10. The patient is being treated with oral biotin and folinic acid.
Case 3: A 23-year-old male presented with gradually progressive spastic paraparesis with seizures and poor scholastic performance. Examination revealed hypertonia of both lower limbs, brisk reflexes, bilateral extensor plantar response and spastic gait. Elevated serum homocysteine, white matter hyperintensities involving the frontal and occipital lobes on neuroimaging and MTHFR gene defect were discovered. Symptomatic improvement was seen on treatment with B12, Folic Acid and Pyridoxine.