[Diffuse cerebral white matter lesion on MRI in a patient with late onset DRPLA without dementia].
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Aged↗
Biomedical subjects
J Kira
Publications and source records attributed to J Kira.
[A case of motor and sensory polyneuropathy with retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis].
We here report a 53-year-old man who presented with motor and sensory polyneuropathy, retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis (DISH). He had a 15-year history of diabetes mellitus (DM). Visual impairment appeared at 17 years of age. Since age 47, he showed a slowly progressive sensory impairment and muscle weakness of the extremities. On neurological examination, retinitis pigmentosa and severe muscle atrophy, muscle weakness and sensory disturbance of all modalities in the distal portions of all four extremities were observed. Deep tendon reflexes were absent. A plain X-P showed diffuse ossification of the spinal and extraspinal ligaments. The motor nerve conduction velocities were severely reduced and no sensory nerve action potentials were evoked. The CSF examination revealed an increased protein level without pleocytosis. The sural nerve biopsy showed a marked onion bulb formation and a loss of the myelinated nerve fibers, which could not be solely explained by DM. As the phytanic acids levels, beta-lipoprotein, lactate and pyruvate in the sera were within the normal ranges, Refsum disease, Bassen-Kornzweig syndrome and mitochondrial diseases were unlikely in this patient. The presence of demyelinating and axonal polyneuropathy in this patient may have been caused by a common metabolic disturbance which produced both retinitis pigmentosa and DISH.
Diabetes Complications↗
[A case of Lyme disease with the triad of neurologic manifestations (meningitis, radiculoneuritis, facial nerve palsy) and dermatitis of the nail roots].
A 23-year-old man experienced dysesthesia of the distal parts of four limbs and spilling of drinking water from the right corner of his mouth. He also experienced low grade fever, headache, and nausea. Neurological examination showed weakness of the right frontal, orbicularis oculi and orbicularis oris muscles, atrophy and weakness of the interosseous muscles in both upper limbs and dysesthesia in the distal parts of four limbs. Laségue's sign was also positive on the left side. Examination of CSF showed lymphocytic pleocytosis and an increase of total protein. Serum antibody against Borrelia garinii was positive as determined by ELISA. The patient was diagnosed as a case of Lyme disease. His symptoms were not alleviated by administration of ceftriaxone (2 g/day) for 15 days, and dermatitis of nail roots appeared. Following administration of penicillin G at a high dose (12 million units/day) for 20 days, both neurologic symptoms and dermatitis were alleviated. Since B. garinii was reported to move preferentially toward the sites of low temperature, dermatitis of nail roots may be one of the characteristic features of Lyme disease caused by B. garinii.
Adult↗
[Progressive multifocal leukoencephalopathy].
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Cerebral Cortex↗
[Disseminated necrotizing leukoencephalopathy].
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Antimetabolites, Antineoplastic↗
[Radiation myelopathy].
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Demyelinating Diseases↗
[Polymyositis and cutaneous vasculitis in a patient with myelodysplastic syndrome].
We report a 60-year-old man with myelodysplastic syndrome (MDS) who developed polymyositis and cutaneous vasculitis. He noticed difficulty in climbing up stairs 4 months before admission. On admission, he showed brownish skin pigmentation in the distal positions of the four extremities. Neurological examination revealed muscle weakness of the neck flexor and proximal muscles of four extremities. Serum myogenic enzymes including creatine kinase increased, and electromyography showed denervation potentials and MUPs were myogenic, which was compatible with polymyositis. Muscle biopsy indicated perivascular mononuclear cell infiltration and muscle fiber necrosis with cytoplasmic bodies and rimmed vacuoles in the muscle fibers. Complete blood cell counts revealed macrocytic normochromic anemia and bone marrow puncture disclosed marked hyperplasia of megakaryocytes, erythroblasts and myeloblasts, suggesting a refractory anemia type of MDS. In addition, skin biopsy showed chronic cutaneous vasculitis. Serum protein electrophoresis and immunoelectrophoresis revealed the presence of IgM gamma type monoclonal gammopathy. With immunosuppressive therapy, serum creatine kinase level was decreased. Since immunological abnormalities and the presence of autoimmune diseases have been reported in patients with MDS, both polymyositis and chronic cutaneous vasculitis in the present patient may be caused by the similar autoimmune mechanisms related to MDS.
Autoimmune Diseases↗
[A case of spinal myoclonus associated with epidural block for lumbago].
We herein report a case of spinal myoclonus following the administration of epidural anesthesia. A 25-year-old woman underwent lumbar epidural anesthesia because of lumbago and cramps in her left lower limb. She immediately felt a lancinating pain in her left limb during anesthesia at the level of L 4/5 and soon developed myoclonus in her left thigh. The neurological examination revealed rhythmic myoclonus in the left quadriceps and adductor thigh muscles. The myoclonus disappeared after performing a blockade of the left L 4 spinal root by using 1.5 ml of 1% lidocaine. An injury to the left L 4 nerve root during the epidural anesthesia possibly caused an abnormal transmission of the impulses or ectopic hyperexcitability in the nerve root, which might lead to the disturbance of the spinal inhibitory interneurons and hyperexcitability of the anterior horn cells causing myoclonus. Since she did not demonstrate any muscular weakness, nor sensory loss during the lidocaine block, the 1% lidocaine appeared to block the sympathetic nerves or to suppress the ectopic hyperexcitability. The sympathetic nerves may be involved in the development of her spinal myoclonus.
Adult↗
[Hepatic involvement in a case of lysosomal glycogen storage disease with normal acid maltase].
A 19-year-old man, who could run only slowly since childhood and who walked on his toes since 12 years of age, noted difficulty in climbing upstairs at 17 years of age. He was admitted to Kyushu University Hospital because of elevated AST, ALT and CK levels. On admission, the liver was palpable two fingerbreadths beneath the right costal margin. A neurological examination revealed a low IQ on WAIS-R, a decreased muscle tonus in his four limbs, moderate weakness of the neck flexor and bilateral tibialis anterior muscles, contracture of the ankle joints, and bilateral pes cavus. The serum CK was elevated to 1,124U/l. Hepatic enzymes, such as AST, ALT, LDH and gamma-GTP were also moderately increased in the sera. A needle EMG disclosed myogenic patterns in the limb muscles. Biopsied biceps brachii muscle showed a mild variation in the fiber size and multiple tiny vacuoles in 5-10% of the muscle fibers. PAS and acid phosphatase were strongly positive in some vacuoles. On electron microscopy, numerous autophagic vacuoles containing glycogen granules were observed. The acid maltase activities were, however, normal in the peripheral blood lymphocytes, the biopsied muscle, and the cultured skin fibroblasts. He was thus diagnosed to have lysosomal glycogen storage disease with normal acid maltase. A histological examination of the biopsied liver revealed the portal and central veins to be slightly sclerotic. In addition, mild fatty changes and frequent nuclear vacuolization were present in the hepatocytes. On electron microscopy, enlarged mitochondria with irregular cristae were also observed. Due to the fact that the cardiac function was well preserved, these hepatic lesions were thought to result from the metabolic abnormalities underlying in this disorder.
Adult↗
[A case of progressive hemifacial atrophy with Pourfour de Petit syndrome which was successfully treated by stellate ganglion block].
We herein report a 31-year-old woman with progressive hemifacial atrophy. The atrophy at her left face began about ten years ago. She had been in a traffic accident one year before the onset of her facial atrophy. Neurological examination revealed anisocoria (right < left) and retraction of the left eyelid, which thus suggested the presence of Pourfour de Petit syndrome. The pupillary reaction to both cocaine and tyramine were reduced bilaterally. Thermography of the face showed slightly lower surface temperature on the left side. A facial thermal sweat test was normal. These findings indicated local hyperactivity of the sympathetic nervous system at the Th 1-Th2 levels on the left side. A left stellate ganglion block effectively induced an accumulation of the subcutaneus tissue of her face on the left side. This is a very rare case in which local sympathetic hyperactivity is present and has caused progressive hemifacial atrophy.
Adult↗
[A case of radiculomyelitis following chickenpox in adulthood].
A 34-year-old woman presented with numbness in both lower limbs and weakness of right lower limb twenty six days after a primary varicella infection (chickenpox) associated with fever and rash. Neurological examination revealed numbness of both lower limbs, more severe on the right side, mild paresis of the right lower limb, particularly in the tibialis anterior muscle, and absent ankle jerk on the right. After admission, hyperalgesia appeared at the thoracic 10-12 levels. The T2-weighted MRI of the spinal cord revealed a high signal intensity lesion at the Th 9 level and gadolinium enhancement was seen in that lesion as well as in the bilateral posterior radicles and the left anterior radix at the Th 9 level. On needle electromyography, fasciculation was found in the right tibialis anterior and gastrocnemius muscles. The temporal dispersion of F-wave was seen in the right peroneal nerve. We diagnosed the patient suffered from radiculomyelitis following the primary varicella infection. The secondary immunological mechanism rather than direct viral invasion is most likely in our patient, because (1) neither VZV DNA, nor anti-VZV antibody was positive in the CSF, and (2) the duration was relatively long between the development of skin rash and that of neurological symptoms.
Adult↗
[A case of cervical myelopathy due to dural arteriovenous fistula at the craniocervical junction].
A 70-year-old woman noted paresthesia ascending from both legs to her thighs 27 months previously. She also suffered from urinary urgency and incontinence. Thereafter, weakness in both legs developed and gradually became worse. At the time of admission, a neurological examination revealed diffuse atrophy and mild spasticity in all four extremities, bilateral mild weakness in both upper extremities, and severe weakness in both lower extremities. Her superficial sensation was moderately impaired below the Th 3 level on her right side, and below the Th 4 level on her left side along with a mildly decreased sense of vibration in her left leg. Marked hyperreflexia in all four extremities and bilateral pathological reflexes were also observed. Pollakisurea, urinary incontinence and constipation were also present. Cervical MRI showed a swelling of the spinal cord at the C3 to C7 levels. Inside the spinal cord, low signal intensity lesions were seen on the T1-weighted MRI, and high signal intensity lesions were observed on the T2-weighted MRI, and the rim of the cervical cord was also enhanced by gadolinium-DTPA. MR angiography revealed enlarged and tortuous vessels at the craniocervical junction, thus suggesting the presence of a dural arteriovenous fistula (AVF). Vertebral arteriography demonstrated abnormal vessels at the spinomedullary junction supplied by the right vertebral artery, which drained into the anterior and posterior spinal veins. After surgically treating the dural AVF, the swelling of the spinal cord, the abnormal signals on MRI, and the clinical symptoms all markedly improved. Although most of the spinal dural AVF were located at the thoracic and lumbar levels, the present case was considered to be a very rare case of dural AVF, since it was located at the craniocervical junction and thus led to the development of cervical myelopathy.
Aged↗
[A case of congenital non-progressive cerebellar ataxia with pigmentary retinal degeneration, fiber type disproportion and hypercreatine kinasemia].
We report a 20-year-old female who presented with congenital non-progressive cerebellar ataxia, pigmentary retinal degeneration, fiber type disproportion, hypercreatine kinasemia and mental retardation. No family history of neuromuscular disorders was found. There was consanguinity between the grandfather and grandmother. Pregnancy and delivery were uneventful. Although neck control was obtained at three months old, she could walk at 23 months old. She had a tendency to tumble. Her mentality was retarded. At 12-years-old, she was diagnosed as having pigmentary retinal degeneration. When she visited to our hospital at 20-year-old, she had slight scoliosis. Neurological examination disclosed mental retardation, pigmentary retinal degeneration, gaze evoked nystagmus on horizontal gaze and proximal dominant muscle weakness. Tandem gait was unsteady. Deep tendon reflexes were slightly hyperactive in all four extremities. The serum creatine kinase was elevated to 2346U/l. Muscle biopsy revealed type I. fiber atrophy and predominance. This case is therefore considered to be cogenital non-progressive cerebellar ataxia presenting with fiber type disproportion, pigmentary retinal degeneration and hypercreatine kinasemia.
Adult↗
[A case of relapsing multiple sclerosis presenting with only autonomic symptoms including orthostatic hypotension, hiccups and vomiting].
A 49-year-old woman, with a two-year-history of multiple screlosis (MS), noticed postural dizziness, intractable hiccups and vomiting. On admission, she had mild quadriparesis, hypesthesia below the C5 level, and a girdle sensation at the T5 and L1 levels. A CSF examination showed slight increases in the protein level (48 mg/dl) and cell count (7/mm3). Brain MRI demonstrated no obvious lesion in the medulla oblongata. The head-up-tilting test showed a decrease in the blood pressure from 105/63 mmHg to 70/55 mmHg. The pulse rate, however, increased from 57/min to 72/min. The cold pressure test also revealed a mild impairement in her blood pressure response. The R-R interval variation (coefficient of variation: CVRR) during normal breathing was 2.58 (normal: > 1.66). The valsalva ratio was 1.84 (normal: 1.4-2.0). The Aschner eye-ball pressure test, the blood pressure response to the injection of epinephrine, and the sweating response to the injection of acetylcholine were all normal. She was thus administered domperidone and chlorpromazine. Only domperidone effectively improved the nausea and vomiting. All symptoms, including orthostatic hypotension, hiccups and vomiting, disappeared about one month after admission. The remission of her symptoms was considered to reflect the natural course of MS. The results of autonomic nervous system function tests and her clinical features suggest that an irritable lesion in the medullary tegmentum, including the nucleus tractus solitarii, most likely caused her symptoms. The above findings indicate that autonomic symptoms, such as orthstatic hypotension, hiccups and vomiting, may sometimes be the only symptoms observed in a relapse of MS.
Autonomic Nervous System Diseases↗
[A Japanese case of Poland-Möbius syndrome].
We herein report a Japanese case of Poland-Möbius syndrome. The patient was a 19-year-old female. She was the product of a full-term forceps delivery. Birth weight was 2500 g. She had a defect of the right pectoral muscle, and syndactyly of the right hand. When she was 10 days old, facial diplegia, bilateral abducens nerve palsy, and bilateral ptosis were also noted. She was admitted to our hospital at 19 years of age. On physical examination, she had microsyndactyly of the right hand, and her right pectoralis major muscle was absent. Neurological examination revealed bilateral abducens nerve paresis, mild impairement of the upward and adducting movement of both eyes and bilateral facial weakness and atrophy of the left side of her tongue. Her karyotype was normal. Neither R 1 nor R 2 response was evoked in the blink reflex on either side. Brain MRI disclosed thin facial nerves and atrophy of the pons and medulla. Therefore, she was diagnosed as a case of Poland-Möbius syndrome. In this case, the facial nerves were considered to be hypoplastic.
Adult↗
Heterogeneity of glucose metabolism in corticobasal degeneration.
A positron emission tomography (PET) study on the regional cerebral glucose metabolism (rCMRglc) was performed in six patients with corticobasal degeneration (CBD). The clinical features included asymmetrical parkinsonism with apraxia, were related to the cerebral cortical and basal ganglionic dysfunction. An MRI study showed all cases to have asymmetrical atrophy in the front-parietal cortex contralateral to the dominantly affected limb; however, no case was pathologically verified. A PET study revealed three cases to have asymmetrical glucose hypometabolism in the parietal lobe and thalamus, which was compatible with the results of previous reports. However, two patients demonstrated symmetrical glucose hypometabolism in the frontal lobe, striatum and parietal lobe while one case had a diffuse hypometabolism, in spite of a marked asymmetry of the neurological findings. These results therefore suggest the heterogeneity of the glucose hypometabolism in CBD based on the PET findings.
Aged↗
Molecular analyses of HLA class II-associated susceptibility to subtypes of autoimmune diseases unique to Asians.
It is well known that individuals positive for particular HLA-class II alleles show high risks for the development of Takayasu arteritis and other diseases caused by immunological disorders such as autoimmune diseases and allergies. HLA class II molecules present antigenic peptides to CD4+ T cells. Their extensive polymorphism affects the structures of peptides bound to HLA class II molecules to create individual differences in immune responses to antigenic peptides. To better understand the mechanisms for association between HLA class II alleles and susceptibility to autoimmune diseases, it is important to identify self-peptides presented by disease-susceptible HLA class II molecules and triggering disease-causative T cells. Many autoimmune diseases are observed in all ethnic groups, whereas the incidences of diseases, clinical manifestations and disease-susceptible HLA class II alleles are different among various ethnic groups for some autoimmune diseases. These phenomena suggest that differences in autoimmune self-peptide(s) in the context of disease-susceptible HLA class II molecules may cause these differences. Therefore, comparisons among disease-susceptible HLA class II alleles, autoimmune self-peptides and clinical manifestations of autoimmune diseases in different ethnic groups would be helpful in determining the pathogenesis of the diseases. In this paper, we describe our recent findings on: (1) the uniqueness of both clinical manifestations and HLA-linked genetic background of Asian-type (optico-spinal form) multiple sclerosis; (2) the structural characteristics of peptides bound to HLA-DQ molecules susceptible to insulin-dependent diabetes mellitus; (3) the identification of a disease-related autoantigenic peptide presented by disease-susceptible HLA-DQ molecules in Asians-specific infant onset myasthenia gravis; and (4) a manipulation of human T cell response by altered peptide ligands, as a possible candidate for new and antigen-specific immuno-suppressive therapy against autoimmune diseases.
Alleles↗