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Spastic Gait and Ankle Clonus in an Adolescent With Elevated Homocysteine Levels

A 13-year-old boy developed an unsteady gait after changing to a vegetarian diet for 15 days.

He had impairments in temporal and spatial orientation, calculation, and short-term memory on mental status examination and horizontal nystagmus, spastic gait, and bilateral ankle clonus and Babinski signs on physical examination (Video).

Increased homocysteine levels (8.85 mg/L; reference, <2.03 mg/L [to convert to micromoles per liter, multiply by 7.397]) and methylmalonic acidemia on urine organic acid analysis confirmed a diagnosis of cobalamin C (CblC) deficiency. His symptoms and gait improved with folate, methyl-cobalamin, and levocarnitine supplementation.

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