High-signal basal ganglia on T1-weighted images in a patient with Sydenham's chorea.

We report a 16-year-old girl with Sydenham's chorea. Choreiform movements involved both sides of her body. MRI 2 months after the onset revealed abnormal increased signal on T2-weighted images and enlargement of the caudate and putamen bilaterally. MRI 5 months later showed resolution of the swelling, but with increased signal on T1-weighted images in the putamen, globus pallidus and the head of the caudate nucleus bilaterally, with slightly increased signal intensity on T2-weighted images.

[A case of painful involuntary contraction of the left latissimus dorsi muscle, successfully treated with left thoracodorsal nerve resection].

A 66-year-old Japanese man underwent the resection of the upper lobe of the left lung for primary lung cancer. One year later, his back muscles neighboring the operation scar gradually began to twitch upwards intermittently. The involuntary muscle twitch was accompanied with severe local pain, and intensity of the pain and contraction slowly increased. The abnormal muscle contractions were confined to the left latissimus dorsi muscle on needle EMG. The pain and movement ceased by blocking of either thoracodorsal nerve or brachial plexus, and disappeared finally by resection of the nerve. The impulses causing involuntary, painful contractions were thought to originate in the damaged thoracodorsal nerve, transmitted to CNS and re-transmitted to the thoracodorsal nerve.

[18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defect].

A case, diagnosed as 18p-syndrome by typical clinical appearance and by chromosomal analysis, presented with multiple nervous system defects consisting of bilateral pyramidal tract signs, weakness and focal dystonia of the lower extremities, and concentric visual field defect. Chromosomal analysis revealed karyotype 46, X, dic (Y;18) (p11;p11), inv(9) (p11q13), and the points of chromosomal breakages were thought to be in the short arm of chromosome 18 and in the short arm of Y chromosome. 18p-syndrome is caused by a chromosomal deletion, and presents with a wide variety of clinical appearances. Many cases have been reported since the original descriptions by de Grouchy in 1963, though with few mentions of neurological deficits other than mental retardation. Furthermore, there have been no reports of pyramidal tract signs, weakness and focal dystonia of the lower extremities, or visual field defect, without recognizable anatomical abnormalities. Our case of 18p-syndrome is quite rare because of multiple nervous system abnormalities mentioned above, not accompanied by malformations of the central nervous system.

[Isolated inferior rectus muscle paresis from midbrain infarction].

A 74-year-old woman, with hypertension and dilated cardiomyopathy, presented with sudden onset of diplopia without vertigo and other neurological symptom. Examination revealed left inferior rectus muscle paresis. Other neurological findings were normal. She had no cerebellar ataxia and sensori-motor dysfunction. Magnetic resonance imaging showed increased signal intensity on T2-weighted and proton density-weighted images in the right ventral midbrain, compatible with infarction involving the fascicular oculomotor fibers. Complete resolution of the diplopia and normal ocular motility were noted 3 months after the onset of the diplopia. Focal ischemic midbrain lesions should be considered in cases of isolated partial oculomotor nerve paresis.

[Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy) in a Japanese family].

We report a family showing an early-onset benign autosomal dominant limb-girdle myopathy with contractures. The clinical features in our family included; 1) slowly progressive limb-girdle muscle weakness since childhood. 2) contractures of fingers, elbows and ankles, 3) mild motor impairment with preserved activities of daily living. The disease was inherited through an autosomal dominant trait. Muscle pathology revealed variation in fiber size, slightly increased central nuclei, mild endomysial fibrosis, type 1 fiber predominance and type 2 fiber atrophy. The above clinical features were similar to those seen in patients reported by Bethlem (1976) and Mohire (1988), and therefore we made a diagnosis of Bethlem myopathy on this familial patients which was extremely rare in Japan.

[Analysis of hemiparesis with homolateral ataxia by single photon emission CT].

Case 1. A 46-year-old man suddenly developed mild gait disturbance and left hemiparesis. On examination, gross strength was slightly reduced in the left extremities. The finger-to-nose and heel-to-knee tests disclosed moderate dyssynergia and dysmetria on the left side that could not be explained by the muscular weakness. Deep tendon reflexes were more brisk in the left extremities. There was no Babinski sign. Magnetic resonance imaging showed a region of high signal intensity in the right posterior limb of internal capsule with extension into lateral thalamus. The lesion involved the cortico-ponto-cerebellar pathway and partly the dentato-rubro-thalamo-cortical pathway. No lesions were seen in the brainstem. Single photon emission CT with 123I-IMP showed left cerebellar hypoperfusion termed crossed cerebellar diaschisis by Baron et al. Case 2. A 65-year-old female developed weakness of the left extremities and gait disturbance. On examination, there was a horizontal nystagmus on lateral gaze to each side. She showed dysarthria, mild left hemiparesis and slight left hypesthesia. The finger-nose and heel-knees tests revealed moderate dysmetria and dyssynergia on the left side. Deep tendon reflexes were hyperactive in the left extremities with left Babinski sign. CT showed a low density area in the right basis pontis at about middle level. Intravenous digital subtraction angiography revealed a slight stenosis of right vertebral artery, but no other abnormality. The lesion involved the cortico-ponto-cerebellar pathway. Single photon emission CT with 123I-IMP showed left cerebellar hypoperfusion. The right cerebellar blood flow was normal.(ABSTRACT TRUNCATED AT 250 WORDS)

Rigid spine syndrome associated with cardiomyopathy: clinical and nosological considerations.

We report observations in a 32-year-old man with the following characteristics of rigid spine syndrome: humero-peroneal muscular atrophy and weakness; bradycardia, dilated cardiomegaly and complete cardiac conduction block; and severe fatty degeneration of the paravertebral and calf muscles. The latter showed a predominance of type 1 fibers, a deficiency of type 2A fibers, and an increase in type 2C fibers. The patient had no familial background of the disease. There was no contracture of the elbows. These findings, especially the severe cardiac involvement, suggest that the rigid spine syndrome can be difficult to distinguish from the Emery-Dreifuss form of muscular dystrophy.

[A case of transient bilateral primary oculomotor nerve paresis associated with head injury].

A 13-year-old boy, with no past medical history, was admitted after a car accident on October 29, 1989. On admission, he was alert. Physical examination revealed a bruise on the left frontal region, a fracture of right clavicula and right hemopneumothorax. He was treated with respirator due to dyspnea. On November 1, 1989, he was removed from respirator and expressed diplopia. Neurological examination showed bilateral ptosis, mild anisocoria, normal light reflex and horizontal gaze nystagmus in lateral gaze. Both eyes were deviated outward slightly in the primary position and showed inability to converge. The external ocular movements of both eyes were mildly limited in elevation and adduction. Ataxia was observed in bilateral upper extremities. Deep reflexes were normal and no pathological reflexes were observed. Brain CT scans showed no abnormality. On November 6, 1989, his ptosis and diplopia improved. On November 8, he was completely recovered. A magnetic resonance imaging on November 10 revealed no abnormality. We suggested that transient dysfunction of midbrain associated with head injury might cause transient bilateral primary oculomotor nerve paresis, nystagmus and ataxia.