Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils

derstood, dysphagia had worsened, cognitive function had deteriorated and the patient was no longer self-sufficient. On hospitalization in our department at age 28 years, neurological examination showed severe mental retardation (IQ 48), ataxic gait, diffuse hypotonia and mild muscle hypotrophy, unintelligible speech and hypernasal voice, dysphagia, slight upward gaze palsy, strabismus, anisocoria with unreactive pupils, slight dysmetria, and hypoactive deep tendon reflexes. Routine blood chemistry, including CK, LDH, pyruvic and lactic acid, carnitine, vitamin E, and thyroid hormones, was normal. Electrocardiography showed partial right branch block. Echocardiography and chest x-ray were normal. Tilting test showed significantly reduced heart rate variability and very high vagal tonus. Brain MRI confirmed severe cerebellar atrophy ( fig. 1 A) and small areas of signal hyperintensity in the olivary nuclei. EMG showed myopathic alterations. Peripheral nerve conduction velocities were in the normal range. Two years later, the patient was readmitted to our department for recurrent episodes of severe constipation lasting 2–3 weeks. Neurological examination was substantially unchanged apart from absent deep tendon reflexes. Abdominal x-ray and intestinal transit studies showed marked slowing (96 h to reach sigma and 148 h to reach rectum). The patient was successfully treated with intravenous Dear Sir, The presence of rimmed vacuoles and intranuclear tubulofilamentous inclusions in muscle fibers is characteristic of disorders such as inclusion body myopathies (IBM) [1–3] , oculopharyngeal muscular dystrophy [4] and distal myopathies [5] . Autosomal recessive and dominant forms of the above syndromes, in which the central nervous system (CNS) is not usually involved, have been reported [1–3, 5] . Here we describe an apparently autosomal dominant syndrome of mental retardation, cerebellar atrophy and abnormal pupils, associated with muscle biopsy evidence of rimmed vacuoles and tubulofilamentous inclusions.