A syndrome with painful lipomas, familial dysarthria, abnormal eye-movements and clumsiness.
A syndrome of dysarthria, clumsiness and abnormal ocular movements are described in a man and his 3 children. His father, who died when our patient was born, also had the same speech abnormality. Our patient also had multiple painful lipomas suggesting a probable diagnosis of adipositas dolorosa Dercum. Although he looked muscular he complained of muscular weakness and fatigue. Oral treatment with a local anesthetic, mexiletin, inhibited the pain in the lipomas. Analysis of the speech disorder in our patient and his children revealed disturbances in the coordination of jaws, larynx and tongue with a poor control of pitch and volume and impaired intelligibility. The poor fine coordination of hands, clumsiness when walking, dysarthria and disturbance of eye-movements could be due to a familial malformation in the pons or cerebellum. Computer tomography and X-ray of head were normal but the grooves on the surface of the cerebellum were more marked than usual.
D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004401:Dysarthria / Q000235:genetics*; D005133:Eye Movements; D006801:Humans; D008067:Lipoma / Q000235:genetics* / Q000628:therapy; D008297:Male; D009048:Motor Skills; D013064:Speech Disorders / Q000235:genetics*; D013577:Syndrome