[A case of choroidal rupture due to blunt ocular trauma healed with proliferative tissue protruding into the vitreous cavity].

Background: Indirect choroidal rupture due to blunt ocular trauma involves rupture of the choriocapillaris or the full thickness of the choroid and Bruch's membrane. The overlying retinal pigment epithelium and the sensory retina are usually intact or atrophic, but rarely ruptured. We report a case of choroidal rupture healed with proliferative tissue protruding through the sensory retina into the vitreous cavity.

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.

[Therapeutic trial of beta 2-adrenergic agonist clenbuterol in muscular dystrophies].

We report the outcome of trial of clenbuterol in four adult muscular dystrophy patients. One patient with Becker type, one with Miyoshi type, and two with facioscapulohumeral type were given clenbuterol (30 or 40 micrograms/day) for 6 to 18 months. We evaluated muscle strength of isometric contraction, grip and pinch power, compound muscle action potentials of intrinsic muscles, vital capacity, urinary creatinine excretion, and muscle CT.

[Spontaneous improvement of subacute exacerbation in a case of sensory ataxic neuropathy associated with Sjögren's syndrome].

We reported a 66-year-old man with Sjögren's syndrome (sicca syndrome) presenting a sensory ataxic neuropathy, which showed spontaneous remission. He developed difficulty in standing and walking during recent several months. Neurological examinations showed sensory ataxia with areflexia in all extremities and mild distal-dominant decrease in the superficial sensation.

[Skeletal muscle pathology of chronic graft versus host disease accompanied with myositis, affecting predominantly respiratory and distal muscles, and hemosiderosis].

We report the muscle pathology in a 43-year-old woman who died of chronic graft versus host disease (GVHD) complicated by myositis and systemic transfusional hemosiderosis, after an allogeneic bone marrow transplantation and a donor leukocyte transfusion for acute myelogenous leukemia. Despite cyclosporin A treatment, fatal ventilatory failure progressed while she was still ambulant. Autopsy revealed the presence of chronic GVHD mildly involving the liver, skin, pericardium, pancreas, and salivary glands, in addition to skeletal muscles.

[Quantitative evaluation of the effect of 3,4-diaminopyridine in a patient with Lambert-Eaton myasthenic syndrome using dynamic dynamometry].

We reported a 72-year-old woman with Lambert-Eaton myasthenic syndrome. The chief complaint was weakness and atrophy of the thigh muscles, which prevented her from climbing stairs even with a handrail. Sensory and autonomic function was normal without amblygeustia.

[A case of relapsing myelitis associated with hypocomplementemia, presenting with Lhermitte sign enhanced by truncal flexion].

A 36-year-old woman suffered from steroid-responsive relapsing myelitis associated with hypocomplementemia, thrombocytopenia, and anti-cardiolipin antibody. At the second attack of paraplegia, neck flexion in a supine position induced uncomfortable dysesthesia radiating into the ulnar side of the bilateral forearms. Both truncal and neck flexion resulted in painful dysesthesia down into both lower limbs also.

[Juvenile-onset multiple brain infarcts localized in the posterior circulation: a case report].

We report a 37-year-old male patient with multiple brain infarcts due to arterial lesions localized in the posterior circulation, who developed a paramedian pontine infarct on the left side. He had been treated as schizophrenia for 20 years. A cranial CT performed one year before showed old small infarcts in the territories of the bilateral thalamo-perforating and left thalamo-geniculate arteries and the right posterior inferior cerebellar artery.

[Adult form of acid maltase deficiency presenting with pattern of muscle weakness resembling facioscapulohumeral dystrophy].

We report a 61-year-old female patient with adult form of acid maltase deficiency showing many clinical similarities to facioscapulohumeral muscular dystrophy (FSHD). She developed difficulty in raising her right arm in her thirties followed by leg weakness. She had the typical features of FSHD, including bilateral scapular winging sparing the levator scapulae and deltoid muscles, and Beevor's sign.

[A lumbosacral cord infarction causing focally accentuated atrophy of the peroneal muscles].

We report focally accentuated atrophy in a muscle due to a cryptogenic lumbosacral infarction. A 56-year-old female rapidly developed left-dominant weakness of lower thigh muscles, sensory loss of all modalities in the L5 and sacral dermatomes, and difficulty in voiding. MRI performed on day 9 showed gadolinium-enhanced lesions in the epiconus.

[A patient with dermatomyositis and systemic sclerosis with preferential facioscapulohumeral muscle involvement and fatal cardiomyopathy].

We report a 23-year-old man suffering from an overlap syndrome of systemic scleroderma and dermatomyositis who died from severe dilated cardiomyopathy. Because his weakness involved predominantly muscles in the facio-scapulo-humeral regions, he was initially thought to have facioscapulohumeral muscular dystrophy (FSHD) at other hospitals. However, he had also Raynaud phenomenon and low voltages on electrocardiogram.

Guillain-Barré syndrome following herpes zoster in a patient with systemic sclerosis.

Abstract We report the case of a patient with systemic sclerosis (SSc) who developed Guillain-Barré syndrome (GBS) 6 weeks after herpes zoster. Muscle weakness developed first, and thereafter severely in the muscles in the same segment as the zoster. Serum anti-GM1 and -GD1b IgM autoantibodies were detected in the acute phase.

[Painful unilateral gynecomastia in a patient with myotonic dystrophy].

A 54-year-old patient with myotonic dystrophy presented unilateral painful gynecomastia, which occurred 3 months after aggravation of diabetes mellitus. Serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels were slightly high. LH was elevated than 2 years before.

[Juvenile parkinsonism with symmetrical hypoperfusion in the cerebellum--a case report].

We report a 24-year-old female presenting levodopa-responsive juvenile parkinsonism with symmetrical hypoperfusion in the cerebellum. At the age of 21, she noticed difficulty in brushing her teeth and writing with the right hand. She developed resting tremor in the right hand.

[Overloading to neck extensor muscles is an aggravating factor to induce further neck drop in isolated neck extensor myopathy (Katz). A case report].

A 78-year-old woman was hospitalized because of progressive anterior neck drop over 4 months prior to admission. She was normal except for mild weakness of her neck, trapezius and biceps brachii muscles. EMG revealed mild myopathic changes in the neck extensors, trapezius, deltoid and sternocleidomastoid muscles.

[A case of unilateral recurrent calf myalgia with muscle edema due to venous congestion].

We report a 38-year-old man who had three episodes of pain and swelling in the right calf from the age of 27 years. On each episode, pain worsened gradually, lasted for a few months and subsided spontaneously. Venography performed at the first episode was reported to be unremarkable.

[Beneficial effect of eyelid make-up (natural rubber latex) to induce a new fold in the treatment of blepharoptosis in myotonic dystrophy].

Blepharoptosis is one of the troublesome ocular complications of myotonic dystrophy. To correct drooping eyelids for two men with myotonic dystrophy, we used Eye Putti, a cosmetic made of natural rubber latex, which induces a new fold in the upper eyelid. The cosmetic rubber latex dramatically improved the sight of a 59-year-old patient who previously had a great difficulty in looking forward and had to bend his head backward to see an object because of severe blepharoptosis.

[Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report].

We report a 42-year-old male suffering from congenital nemaline myopathy accompanied with mitochondrial abnormalities in his muscle biopsy. He had a dysmorphic face with a high-arched and narrow palate and slowly progressive generalized muscle weakness. He was still able to walk with a cane.

Automated DNA fragment collection by capillary array gel electrophoresis in search of differentially expressed genes.

An automatic DNA fragment collector using capillary array gel electrophoresis has been developed. A sheath flow technique is used for not only detection but also collection of DNA fragments. In a sheath flow cell, the DNA fragments separated by 16 capillaries flow independently into corresponding sampling capillaries.

Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.

Tissue distribution of beta-hexosaminidase was investigated using 5-bromo-4-chloro-3-indolyl N-acetyl beta-D-glucosaminide (X-Hex) as substrate in wild-type mice, four GM2 gangliosidosis model mice (Hexa-/-, Hexb-/-, Gm2a-/- and Hexa-/-Hexb-/-) and Hexb-/- mice that received bone marrow transplantation (BMT). In wild-type mice histochemical localization of beta-hexosaminidase was detected in the perikarya of the majority of neurons, small process-bearing microglial cells, perivascular macrophages, and macrophages in the choroid plexus and leptomeninges. X-Hex positivity was also noted in the renal tubular epithelium and macrophages in the liver and spleen.

Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements.

Cross-breeding of mouse mutants, each defective in either synthesis (CGT knockout) or degradation (twitcher) of galactosylceramide, generates hybrids with a genotype of galc -/-, cgt +/-, in addition to doubly deficient mice. They are ideally suited to test the potential usefulness of limiting synthesis of the substrate as a treatment of genetic disorders due to degradative enzyme defects. The rate of accretion of galactosylceramide in the brain of CGT knockout carrier mice (cgt +/-) is approximately two-thirds of the normal, suggesting a gene-level compensation for the reduced gene dosage.

Biochemistry and neuropathology of mice doubly deficient in synthesis and degradation of galactosylceramide.

We have generated mice doubly deficient in both synthesis and degradation of galactosylceramide by cross-breeding twitcher mice and galactosylceramide synthase (UDP-galactose:ceramide galactosyltransferase, CGT) knockout mice. The prediction that the phenotype of the doubly deficient mice should be the same as the cgt -/- mice, since the degrading enzyme should not be necessary if the substrate is not synthesized, proved to be only partially correct. In early stages of the disease, the doubly deficient mice (galc -/-, cgt -/-) were essentially indistinguishable from the cgt -/- mice.

Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber disease.

Ceramide is recognized as an intracellular mediator of cell growth, differentiation and apoptosis. Tumour necrosis factor, anti-fas antibody, radiation and anticancer drugs such as actinomycin D are known to induce apoptosis in several cell types through generation of ceramide by activation of the sphingomyelinase pathway or ceramide synthetase. In this study, we examined the occurrence of apoptosis in fibroblasts from patients with Farber disease and from sphingolipid activator protein-deficient (sap -/-) mouse.

Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).

Sphingolipid activator proteins (SAPs) A to D are lysosomal factors required in degradation of sphingolipids with short hydrophilic head groups and are derived from a precursor protein. Sap-B deficiency causes a variant of metachromatic leukodystrophy and sap-C deficiency causes a variant of Gaucher disease. Human total SAP deficiency has been reported in two patients in a single family.

[A neuropsychological study on a patient with the resection of the right lateral frontal lobe].

We report a patient who underwent a resection of the right lateral frontal lobe after a venous thrombosis of the superior sagittal sinus. The patient showed inertia, obsessive-compulsive behavior and disinhibition two weeks after the operation and hyperlogia and hypergraphia four weeks later, all of which disappeared within six weeks. General intelligence, language and memory were consistently preserved, though the scores of the performance IQ and the visual memory were relatively decreased.