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Washington University Experience | NEURODEGENERATION | NBIA1 (PKAN, Hallervorden-Spatz Dz) | 6A0 Case 6 History
Case 6 History ---- The patient was a 64 year old, right handed man with a history of alcoholism, major depression and generalized tonic-clonic seizures since the age of 54. He began to experience abnormal movements 4 years prior to death, describing twitches of his head, face and left upper extremity which would last approximately 15 seconds. There was no family history of involuntary movements. In 11/87 he developed acute difficulty in using his left hand to button his shirt. Exam at that time revealed an unsteady tandem gait, clumsy left fine finger movements, and choreoathetotic movements involving his face, neck and bilateral upper extremities. T4, TSH, B12, folate. rheumatoid factor, ANA and FTA were all normal, and CT scan of the head revealed an infarct in the posterior limb of the right internal capsule and right putamen. At that time his Dilantin was discontinued and phenobarbital gradually increased, and although his movements were briefly less bothersome, they soon returned. Haldol improved movement abnormalities but produced sleepiness. MRI was normal. Worsening of his condition impaired driving, speech and depression resulted in readmission to BJH. Exam at that time was notable for poor short-term memory, a flat affect, the absence of Kayser-Fleischer rings, a flattened left nasolabial fold, and mild left hemiparesis. Moderate oral-buccal-lingual movements and choreiform movements in all four extremities were also described. Pertinent laboratory values at that time included a calcium of 8.1 (albumin 3.3), copper of 154 (normal 70-140), ceruloplasmin of 40 {normal 18-45), a positive VDRL but negative TPA, an ESR of 35, and an ANA titer of 1:320 (homogenous). B12, T4, TSH. folate, zinc and phosphate were all normal. A peripheral blood smear failed to reveal acanthocytes. A trial of clonazepam was discontinued at 0.5 mg TID because of somnolence, and he was discharged on 0.25 mg TID of Haldol. In general his choreiform movements were well controlled on Haldol. He expired during an apartment fire with cause of death listed as carbon monoxide asphyxiation.
