Case Report

This white man from the "S" family (II-4 in the pedigree of [45], see also Fig. 1), was originally a grocer's shop assistant but retired in his forties because of increasing neurological impairment. He had displayed minimal signs of choreatic movements from his mid twenties. WA had lived by himself and was discovered dead in his bed at the age of 50 years.

He had first presented to his local hospital at the age of 34 years with tiredness and intermittent left-sided upper abdominal pain. Both remitted after an enlarged spleen was removed. Mild hypertension (elevated to 160/100mmHg) was treated medically. At the ages of 43, 44, and 47 years, chest x-rays showed mainly left ventricular enlargement of the heart, increased in comparison to previous films. Electrocardiogram showed sinus rhythm with marked ectopic activity. Cardiac ultrasound at age 47 disclosed no mitral or aortic valve abnormalities, but showed thickened walls of the left ventricle and of the interventricular septum (both 20 mm) as well as enlargement of the left atrium and left ventricle and generalized hypokinesia.

Laboratory assessments between the ages of 34 and 50 disclosed elevated creatine kinase (CK) levels that ranged from 788 to 3240 U/l (normal < 200 U/l) as well as slightly elevated levels of lactate dehydrogenase (LDH) (254-367 U/l, normal < 250), Alanine transminase (ALT) (43-80 U/l, normal < 55 U/l) and aspartate aminotransferase (AST) (60-100 U/l, normal < 48 U/l). Gamma-glutamyl transpeptidase (yGT), in contrast, was within normal limits as were hepatitis markers, bilirubin, and alkaline phosphatase as well as serum cholesterol, triglycerides and lipoprotein electrophoresis, and haptoglobin. Hemoglobin was 14.0-16.0 g/dl, MCV 87fl, and reticulocyte count 1.8-2.0%. Serum iron was 18 |imol/l, iron binding capacity 72 |imol/l, and ferritin 144 |LLg/l. Blood films showed 30-40% acanthocytes.

His Kell erythrocyte typing results have been reported previously and confirmed the McLeod red cell phenotype [45]. Although this was not directly assessed, a major deletion of the McLeod gene XK, affecting the promoter and exon 1 with resultant absence of the XK protein is likely as this deletion was found in his cousins, B and C (see Fig. 1, also known as S/H [6, 24, 26]).

From his early forties the choreatic movements became progressively more frequent and intense and he developed dysarthria. Examination at the age of 47

years showed distortion of speech by extra movements of his lips and of the tongue that moved in his mouth in a restless manner. There was also a fine tongue tremor. Facial expression was described as "slightly lop sided with jaw forward". Muscle power was moderately reduced and muscle bulk was globally diminished in this man of body mass index 21 (183 cm; 70 kg), disproportionately affecting proximal limb muscles (triceps, biceps, and deltoid in particular). Muscle tone was globally reduced and fasciculations were present, e.g. in the triceps and biceps bilaterally, increasing on gentle tapping. Generalized areflexia had been noted several years previously. Plantar responses were flexor. Sensation was normal except for absent vibration sense at the ankles. There was no ataxia on finger-nose-testing. His gait was wide-based and bent forward. His choreatic movements were of small amplitude, and irregularly and unpredictably affected his face, arms, abdominal wall, thigh and feet. These movements waxed and waned over periods of several weeks, and increased during tension. They were felt to respond somewhat to tetrabenazine 25 mg q.i.d. but over the course of 2 years had clearly deteriorated, severely affecting everyday activities and making dressing, walking, and cycling difficult. He was able to cycle for at least 30 km, but was reminiscent of an inebriate because of his erratic and unsteady course. Feeding was impaired because he spilled and jerked food around through sudden involuntary movements. However, he continued to live by himself, with little outside help.

Although somewhat socially withdrawn he had belonged to a darts club and had appeared quite proficient at it. There were some reports of unusual behavior with sexual deviancy and documented exhibitionism. His mental state seemed to deteriorate but was difficult to assess because of dysarthria. He had a fair knowledge of world affairs and recent events and was able to speedily and accurately solve easy mental arithmetic such as the serial 7s test.

When seen shortly before his death, WA continued to have marked choreo-athetoid movements of trunk and limbs. Involuntary movements also involved the head and tongue. His speech had further deteriorated, having become quite slurred. Tongue movements were slow and there was occasional drooling. The gag reflex was prominent. His stance was stable, but his walking was more stooped and unstable and the head more flexed. There was prominent wrinkling of his brow, a rather flat facial affect with paucity of expression. Most prominent was the increasing dysphagia for both solids and liquids but especially for swallowing soft food.

Computerized tomography of the brain had shown some hydrocephalus with a high density lesion corresponding to an anterior communicating artery aneurysm. His death was not related to this but an exact cause could not be given.

On autopsy, the heart was found moderately enlarged (650 g) and left and right ventricles were dilated (left ventricular wall thickness 2.5 cm). Also the liver was enlarged (1800 g). Lymph nodes and bone marrow were unremarkable. The spleen removed in vivo had weighed 450 g and histologically was reported to show retention of the normal splenic architecture with an increase in red pulp, congestion of pulp sinusoids that were lined by mildly hyperplastic endothelial cells. These findings had been thought to resemble those of hereditary spherocytosis.

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