Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients.

Our new finding on magnetic resonance imaging (MRI) of Machado-Joseph disease (MJD) patients indicates degeneration of the lenticular fasciculus (LF), a major outflow of the internal segment of the globus pallidus (GPi). We examined the clinical, radiological, and autopsy findings of one MJD patient and then retrospectively reviewed the MRI images of another 15 patients looking for a similar abnormal signal intensity. The significance of the clinicoradiological correlation of the MRI finding was confirmed by examining the MRI images of 130 control subjects. In the autopsy case, abnormal linear high intensity areas were observed along the bilateral medial margins of the internal segments of the GPi on T2 weighted, FLAIR, and proton density images, but not on T1 weighted images. Pathologically, this abnormal signal intensity was consistent with degeneration of the LF. The same finding was also observed in the other 15 patients. In two patients the finding was only unilaterally observed. No control subject showed this MRI finding. In MJD patients, abnormal linear high intensity areas indicating LF degeneration are usually observed along the medial margin of the GPi on T2 weighted, FLAIR, and proton density sequences. To our knowledge, this MRI finding has not previously been described.

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

BACKGROUND: Distal myopathy with rimmed vacuoles (DMRV) is an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles. The disease locus has been mapped to chromosome 9p1-q1, the same region as the hereditary inclusion body myopathy (HIBM) locus. HIBM was originally described as rimmed vacuole myopathy sparing the quadriceps; therefore, the two diseases have been suspected to be allelic. Recently, HIBM was shown to be associated with the mutations in the gene encoding the bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). OBJECTIVE: To determine whether DMRV and HIBM are allelic. METHODS: The GNE gene was sequenced in 34 patients with DMRV. The epimerase activity in lymphocytes from eight DMRV patients was also measured. RESULTS: The authors identified 27 unrelated DMRV patients with homozygous or compound-heterozygous mutations in the GNE gene. DMRV patients had markedly decreased epimerase activity. CONCLUSIONS: DMRV is allelic to HIBM. Various mutations are associated with DMRV in Japan. The loss-of-function mutations in the GNE gene appear to cause DMRV/HIBM.

Bilevel nasal positive airway pressure and ballooning of the stomach.

We describe a case of severe gastric insufflation in a patient with amyotrophic lateral sclerosis who was receiving bilevel nasal positive airway pressure (BNPAP) ventilation (BiPAP; Respironics; Murrysville, PA). The injection of inspiratory flow into the esophagus, aerophagia, and air trapping below the gastroesophageal junction after a meal are probably the major causes. We suggest that BNPAP ventilation can be a cause of serious gastric insufflation in a patient who lies supine, especially after a meal, and attention should be paid to avoiding this complication by having the patient sit up for about half an hour after a meal.

[Clinical criteria for the diagnosis for PSP].

In attempts to improve the accuracy of its clinical identification, investigators have proposed numerous diagnostic criteria for progressive supranuclear palsy(PSP). We compared with six different sets of previously published criteria for the clinical diagnosis of PSP. Among of them, the NINDS-SPSP criteria are a most prominent diagnostic standard. But in the clinical area, the NINDS-SPSP criteria have some weak point. We plan to make up this point for using the neuroimaging techniques.

[A 49-year-old man with progressive dysarthria, dysphagia, and left hemiparesis].

We report a 49-year-old man who presented progressive dysarthria, dysphagia, and left hemiparesis. The patient was well until June 28th of 1993 when he noted 'weakness' in his both legs; despite his weakness, he could play golf on that day. In the beginning of July, he noted difficulty in swallowing solid foods. He was admitted to the neurosurgery service of our hospital on July 15th of 1993 and a neurologic consultation was asked on July 17th. Neurologic examination at that time revealed an alert but somewhat childish man who appeared to have some difficulty in paying attention to questions. He was disoriented to time and showed difficulty in recent memory and calculation. Higher cerebral functions were intact. The optic fundi were normal; pupils were isocoric and reacted to light promptly; ocular movements were intact, however, he showed difficulty in convergence. Facial sensation and facial muscles were intact. He had no deafness. He showed slurred speech and difficulty in swallowing solid foods. The remaining cranial nerves were intact. Motor-wise, he was able to walk normally and no weakness or atrophy was noted. Mild ataxia was noted in the finger-to-nose and the heel-to-knee test on the left. Muscle stretch reflexes were normal and symmetric, however, the plantar response was extensor bilaterally. Sensation was intact and no meningeal signs were noted. General routine laboratory findings were unremarkable. CSF was under a normal pressure containing 1 cell/microliter, 68 mg/dl of protein, and 54 mg/dl of glucose. Cranial CT scan showed low density areas involving the pons, midbrain, left thalamus, and the left parietal cortex. In MRI, these areas presented low signal intensity in T1-weighted images and high signal intensity in T2-weighted in images. The brain stem appeared swollen. Gadolinium enhancement was negative. He was given a course of steroid pulse with 1 g/day of DIV methylprednisolone for three days followed by oral steroid. He showed only temporary improvement in swallowing. In the subsequent course, he showed progressive deterioration in dysarthria and dysphagia. A biopsy was performed on the left parietal lobe lesion. After biopsy, he was treated with steroid and glycerol without improvement. A course of chemotherapy with procarbazine, MCNU, and vincristine was given; he did not respond to chemotherapy. His left hemiparesis deteriorated. He developed aspiration pneumonia from dysphagia and expired on October 22, 1993. The patient was discussed in a neurologic CPC, and the chief discussant arrived at the conclusion that the patient had astrocytoma grade III involving the pons, midbrain, thalamus, and the parietal cortex.(ABSTRACT TRUNCATED AT 400 WORDS)

Neuroimaging of juvenile pilocytic astrocytomas: an enigma.

PURPOSE: To present the imaging, metabolic, and clinical data obtained in five patients with juvenile pilocytic astrocytomas (JPAs) and discuss the paradoxical neuroimaging findings. MATERIALS AND METHODS: Five patients with JPAs who had undergone structural imaging and fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography (PET) were studied. Normalized glucose utilization rates (GURs) in the tumor were compared with GURs in histopathologically verified low-grade astrocytomas and high-grade tumors. RESULTS: All JPAs enhanced markedly after administration of contrast medium. Their glucose metabolism was significantly (P < .001) higher than that of low-grade astrocytomas and was similar to that of anaplastic astrocytomas. All patients with JPAs were in stable condition and showed no evidence of disease progression despite contrast enhancement and high tumoral glucose metabolism. CONCLUSION: The paradoxical FDG PET findings and enhancement at structural imaging might reflect the unusual vascularity of pilocytic tumors, and the increased GUR might be related to expression of the glucose transporter.

Quadriceps myopathy: forme fruste of Becker muscular dystrophy.

We examined dystrophin, the protein product of the Duchenne muscular dystrophy gene, in muscle biopsy specimens from 4 male patients with quadriceps myopathy, all of whom showed a mild and slowly progressive myopathy confined to the quadriceps muscles. All 4 patients had clear abnormalities of dystrophin, and were diagnosed as having Becker muscular dystrophy by both immunofluorescence and immunoblot examinations; that is, dystrophin of an abnormal molecular mass was visualized in muscle cryosections as "patchy" or discontinuous immunostaining at the surface membrane of the muscle fibers. One patient had a brother who showed widespread myopathic changes consistent with typical Becker muscular dystrophy. We conclude that the syndrome called quadriceps myopathy includes a group of forme fruste Becker muscular dystrophy.

[CT evaluation of cerebellar atrophy with aging in healthy persons].

The author studied the incidence of computed tomographic evidences of cerebellar atrophy in 2,102 neurologically normal subjects. The subjects were selected from approximately 10,000 cases who underwent CT examination at Juntendo University hospital since April 17, 1978 to October 30, 1979. The 2,102 subjects were classified into 10 groups according to their age, as following: 1) below the age of 1 year, 2) between 1 and 4 years, 3) between 5 and 9 years, 4) second decade, 5) third decade, 6) fourth decade, 7) fifth decade, 8) sixth decade, 9) seventh decade, 10) after the age of seventy. The incidence of enlarged cerebellar vermis fissures, cerebellar hemispheric fissures, subarachnoid space around the cerebellum and the fourth ventricle were explored on CT. As regards the fourth ventricle, the maximum transverse width of the fourth ventricle and the maximum inside diameter of the posterior fossa were measured on CT, and ratio of the width of the fourth ventricle against the diameter of the posterior fossa were calculated. Statistical analysis was performed using chi 2 test or t test in each age group. The results obtained were as following: I. The incidence of enlarged cerebellar vermis fissures and cerebellar hemispheric fissures increased gradually with aging. Though the difference were almost significant in any groups older than 20 years. It was noteworthy among those who were older than 60 years. II. The incidence of enlarged subarachnoid space around the cerebellum also increased significantly after the age of sixty, III. In subjects older than twenty, the width of the fourth ventricle increased with aging.(ABSTRACT TRUNCATED AT 250 WORDS)

[Visibility of the inferior horns in computed tomography of normal subjects and epileptics].

In recent years brain CT scan has been so popular that many investigators have been trying to clarify the normal CT images. But little attention has been paid to the inferior horns of lateral ventricles in spite of their importance for judging mesial temporal lobe structures. The present study was designed to elucidate how the inferior horns were visualized on brain CT in normal subjects from childhood to aged group, and to evaluate whether the inferior horns were dilated in the epileptics or not. The subjects of the present study were 502 normal controls (2-79 y, mean 36.1 y) and 163 epileptic patients with normal CT image (4-68 y, mean 26.6 y) including 55 cases of temporal lobe epileptics. CT scans were performed with EMI 1010 scanner, and slices were obtained every 10 mm from the projection of 5-10 degrees angle for orbito-meatal line. Inferior horns were examined at the level of basal cisterns. Because inferior horns were not necessarily visible in our cases, we examined the frequency of clearly visualized inferior horns at each decade, and regarded their frequency as the size of inferior horns at each decade. In normal controls, frequency of visible inferior horns was relatively high in early childhood, and decreased as they grew. In the 3 rd to 4 th decades the visibility frequency became the lowest (30-35%), and then gradually increased as the subjects became older.(ABSTRACT TRUNCATED AT 250 WORDS)