[Paroxysmal dystonic choreoathetosis with chronic hemolytic anemia and morphologically abnormal erythrocytes].

A 38-year-old man was admitted to our hospital because of paroxysmal involuntary movement. He had a normal birth and normal development. No other members of his family had similar symptoms. He had attacks of choreoathetoic involuntary movement without loss of consciousness since about 11 years of age. Paroxysmal choreic movement occurred once or twice a month and lasted for 30 minutes to 4 hours. The attacks were intractable with phenytoin, phenobarbital, valproic acid, etc. He had slight disturbance of visual acuity due to toxoplasmosis and low intelligence (IQ 59, WAIS-R test). There were no other abnormal findings on general and neurological examinations. He was diagnosed as paroxysmal dystonic choreoathetosis (PDC) because of the typical attacks of paroxysmal choreic movement. He had macrocytic anemia with elliptocytes (13%) and stomatocytes (12%) but no acanthocytosis. There were increased reticulocytosis and low level of haptoglobin. Bone marrow aspiration showed increased erythroblasts. However, other hemolytic findings including bilirubin levels, Coombs test, osmolality tolerance test were normal. Biochemical analyses of erythrocyte membrane proteins and lipids, glycolytic enzymes activities and intermetabolites contents showed no abnormality. EEG revealed slow waves without abnormal paroxysmal discharges, and CT revealed no abnormal calcification. T2 weighted MRI showed bilateral multiple high intensity spots in the subcortical area, but no atrophy of the caudate nucleus. The pathogenesis of PDC is still unknown. In the present case, we suspect that a biochemical defect which had not been disclosed might result in abnormal erythrocyte membrane and PDC.

[A case of motor neuron disease with IgM gammopathy which showed anti-cerebrum antibody].

A patient, 50-year-old female, developed progressive weakness of lower extremities, and gait disturbance for 2 years. Neurological examination revealed hyperreflexia with pathological reflex, fasciculation in the limbs and tongue, muscle weakness and atrophy in distal limbs, but no sensory disturbance. Needle EMG showed neurogenic findings compatible with motor neuron disease (MND). Laboratory data showed polyclonal IgM hyperimmunoglobulinemia, positive several autoimmune antibodies including antisingle strand DNA antibody (Ab), ENAab, SS-A ab and RA. There were no antibodies for gangliosides and Myelin-associated glycoprotein (MAG), but positive antibody for 54KD protein of cerebral gray and white matter. The clinical manifestations including gait disturbance and muscle weakness, and serum IgM level were moderately improved by plasmapheresis which is considered important for consideration of causes of MND.

[Chronic progressive external ophthalmoplegia (CPEO); mitochondrial DNA deletion, brain MRI and electrophysiological studies].

To evaluate the correlation of clinical symptoms and deletion of mitochondrial DNA (mtDNA) in CPEO, we examined brain MRI, lower limb SSEP and mtDNA in 19 patients (nine men, ten women) with CPEO averaging 44.9 years of age. Of these patients, three had typical Kearns-Sayre syndrome (KSS) as defined by the presence of the invariable triad of CPEO, retinitis pigmentosa and an onset before the age of 20, as well as at least one of the followings: heart conduction block, cerebellar ataxia and elevated CSF protein. One patient was diagnosed as having probable KSS because the symptoms had begun at the age of 33. All patients with typical and probable KSS had one or more of the following common manifestations: mental retardation or dementia, hearing loss, short stature, and endocrinological disorder. All other 15 patients had ocular myopathy with limb muscle weakness. Total DNA was isolated from 19 biopsied muscles, and analyzed by the methods of Southern blot hybridization and PCR. Thirteen patients has heteroplasmy with the deleted and normal mtDNA, and six patients who had ocular myopathy did not have mtDNA deletion. The age of onset in the patients with mtDNA deletion averaged 23.0 years of age, while that without mtDNA deletion averaged 39 years of age. All KSS and two ocular myopathy patients shared the common site in mtDNA deletion, while nine with ocular myopathy showed the different sizes of deletion ranging from 2.3 to 9.5 kb in the different sites. Brain MRI was obtained from 12 of the 19 patients.(ABSTRACT TRUNCATED AT 250 WORDS)