Tremor and deep white matter changes in α-methylacyl-CoA racemase deficiency

α-Methylacyl-coenzyme A (CoA) racemase deficiency is a peroxisomal disorder leading to accumulation of pristanate and bile acid intermediates. Of four cases reported, two had adult-onset neuropathy; one had retinitis pigmentosa, epilepsy, migraine, and depression, and the other had pyramidal signs.1,2⇓ Two cases were children: one with Niemann-Pick type C disease,2 and one with vitamin K deficiency.3 We describe another case with tremor, retinitis pigmentosa, and deep white matter MRI changes who subsequently developed an encephalopathy with left hemiparesis and unchanged MRI. She did not respond to plasma exchange. A woman aged 53 years was examined for a 17-year history of upper limb, head, and voice tremor. Nocturnal visual difficulties began 12 months before evaluation. From adolescence she had asthma and migraine. At age 45 years she developed severe depression, which still requires antipsychotics. Her father developed mild action tremor in adolescence consistent with essential tremor. A maternal half uncle is registered blind with retinitis pigmentosa. Her parents and uncle have normal pristanate …