We report on a case of Chorea-acanthocytosis (ChAc) in association with Tourettism that consisted of motor and vocal tics, attention deficit-hyperactivity disorder, and obsessive-compulsive disorder in addition to the typical symptoms of ChAc. The subject was compared with his elder sister who had the same disease but milder clinical profile and neuroradiological findings. The [(18)F]-2-fluoro-2-deoxyglucose positron emission tomography (FDG-PET) findings did not explain the differences in symptomatology between the patient and his sister, although they may have correlated with severity.

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In addition to the findings characteristic of homozygosity for ATTR Val30Met such as vitreous amyloidosis and relatively less autonomic involvements, this case had the unique findings of motor-dominant sensorimotor polyneuropathy and unusual sural nerve biopsy specimen results.

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A 57-year-old man presented with a pulmonary mass and subacute onset of paraplegia. Laboratory examination revealed an increased protein content in the cerebrospinal fluid and a normal myelogram. Autopsy disclosed epidermoid carcinoma in the left lower lobe of the lung, intramedullary metastasis at the midthoracic level, and a central pencil-shaped softening above and below the metastatic lesion. The pencil-shaped softening was an ischemic infarct rather than of hemorrhagic or congestive origin. The pathogenesis of this rare association may be explained by the hypothesis of a tumor embolus in the arterial circulation that feeds the center of the cord, producing metastasis. This embolus was followed later by a second embolus to a radicular artery, causing the pencil-shaped softening of the spinal cord.