Biomedical subjects

N Tachi

Publications and source records attributed to N Tachi.

120 records · Page 7Linked to original sources

PubMedDate not supplied

Childhood multiple sclerosis: MR images and clinical variations in four Japanese cases.

We report four Japanese cases of multiple sclerosis (MS) starting during childhood. In three of them, onset occurred in the prepubertal period. Case 1 showed a rare clinical condition: the patient presented with Devic disease, and 2 years later she was complicated by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). The other three cases had symptoms of gait disturbance, cerebellar signs, weakness of the extremities and impaired visual acuity. Headache was seen in Case 2 and medial longitudinal fasciculus (MLF) syndrome in Case 4. In Cases 2, 3 and 4, diagnoses were conclusively made by T2-weighted magnetic resonance imaging (MRI). MRI, brain stem auditory, visual and somatosensory evoked potentials are extremely useful for evaluating the clinical conditions of children with MS.

Adolescent↗

PubMedDate not supplied

Muscle pathology in Marinesco-Sjogren syndrome: a unique ultrastructural feature.

The light- and electron-microscopical findings in the skeletal muscle of a patient with Marinesco-Sjogren syndrome (MSS) are presented. Muscle biopsy specimens showed myopathy with slightly dystrophic changes including variation in fiber size, muscle fiber necrosis, regeneration and rimmed vacuole formation. Fiber type analysis with myosin ATPase staining showed a mild increase in type 2C fibers. Electron microscopy revealed autophagic vacuoles with numerous myeloid bodies, and a unique dense membranous structure associated with nuclei. We consider that this unique membranous structure is an important feature in the muscle pathology of MSS.

Biopsy↗

PubMedDate not supplied

Walker-Warburg syndrome in a Japanese patient.

We report the first Japanese female patient with Walker-Warburg syndrome. She had generalized muscle hypotonia with hydrocephalus due to Dandy-Walker malformation and bilateral microphthalmia with opaque corneas. She had severe motor and mental retardation. Muscle histology reflected advanced changes of muscular dystrophy. We discuss the relationship between Fukuyama congenital muscular dystrophy and Walker-Warburg syndrome, both of which fall within a spectrum of developmental abnormalities with a common cause. In Fukuyama congenital muscular dystrophy, ocular abnormalities are less severe.

Abnormalities, Multiple↗

PubMedDate not supplied

Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles.

We report a 5-year-old boy with lysosomal glycogen storage disease and normal acid maltase activity. This patient, the fourth reported in the literature, was referred to our hospital for evaluation of elevated serum GOT, GPT, and CK activities. He had neither muscle weakness nor atrophy. Echocardiography demonstrated marked thickening of the intraventricular septum and left ventricular wall which indicated hypertrophic cardiomyopathy. Biopsied skeletal muscle disclosed massive accumulation of glycogen and autophagic vacuoles. Electron microscopy of biopsied cardiac muscle revealed severe myofibrillar disruption with marked accumulation of free and intralysosomal glycogen. Activities of all major glycolytic enzymes in skeletal muscle, including acid maltase, were normal. It is unknown why muscle lysosomes appeared to be unable to digest the trapped glycogen despite the presence of acid maltase. Our findings illustrate the importance of performing skeletal muscle investigation during childhood in patients with hypertrophic cardiomyopathy.

Biopsy↗

PubMedDate not supplied

Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy).

We report the first Japanese patients, a mother and son, with early-onset, benign, autosomal-dominant, limb-girdle myopathy with contractures (Bethlem myopathy). The clinical features revealed predominantly proximal muscle weakness--especially in the limb-girdle muscles--joint contractures increasing with age, a benign course, and the absence of cardiac involvement. Muscle histology revealed nonspecific myopathy changes without dystrophic features. Electromyogram revealed a reduced interference pattern with a giant spike suggesting a neurogenic process.

Adult↗

PubMedDate not supplied

Rett syndrome: findings suggesting axonopathy and mitochondrial abnormalities.

We report the histopathologic findings of 3 sural nerve biopsies and 1 muscle biopsy from 3 patients with Rett syndrome. The 3 sural nerve biopsies demonstrated a few ultrastructural abnormalities, including the presence of many Pi-granules and mitochondrial changes in the cytoplasm of Schwann cells, occasional bands of Büngner and onion-bulb formations, and mitochondrial alterations in myelinated axons. Morphometric analysis disclosed reduction in the number of large myelinated fibers with normal densities in comparison to those of an age-matched normal control. Light microscopic examination of the biopsied muscle from a 6-year-old patient with Rett syndrome revealed the existence of many small, dark, angulated fibers with NADH-TR staining. Ultrastructural investigation of the muscle confirmed the presence of the dumbbell-shaped mitochondria. Peripheral nerve involvement and the possibility of mitochondrial abnormalities in Rett syndrome were suggested by the results.

Axons↗

PubMedDate not supplied

Mosaic pattern of dystrophins in Duchenne muscular dystrophy.

Dystrophin is the gene product affected in Duchenne muscular dystrophy (DMD). Dystrophin is demonstrably absent with immunocytochemical staining and undetectable by western blotting of DMD muscles. We report an isolated 7-year-old girl with DMD. Analysis of the patient's and her mother's DNA, with probes covering the DMD gene, disclosed no deletion. We have studied dystrophin in biopsied muscle from the patient using antidystrophin antibody in combination with immunofluorescence. Random presence of normal and dystrophin-deficient fibers were indicative of mosaic expression. Dystrophin immunocytochemistry may be useful for accurate diagnosis of affected females.

Biopsy↗

PubMedDate not supplied

Dystrophin analysis in the differential diagnosis of autosomal recessive muscular dystrophy of childhood and Duchenne muscular dystrophy.

We report 2 patients with childhood autosomal recessive muscular dystrophy. Both patients had slight muscle weakness without enlargement of the calf muscles or involvement of the facial muscles. Their clinical courses are static. Muscle histology revealed characteristic features of muscular dystrophy. Dystrophin was identifiable in the sarcolemma of both patients by immunocytochemical staining with an antidystrophin antibody. At an early age, immunocytochemical analysis with antidystrophin antibody was useful in distinguishing between childhood autosomal recessive and Duchenne muscular dystrophies.

Biopsy↗

PubMedDate not supplied

Congenital muscular dystrophy in Marinesco-Sjögren syndrome.

The histochemical and immunocytochemical findings of biopsied muscle in a 2-year-old girl with Marinesco-Sjögren syndrome are reported. Muscle histology consisted of mild muscular dystrophy, such as that found in limb-girdle or non-Fukuyama congenital muscular dystrophy. By immunocytochemical stain using anti-dystrophin antibody, Duchenne and Becker muscular dystrophies were excluded. In addition to characteristic clinical features, including ataxia, congenital cataract, and psychomotor retardation, muscle involvement is essential to the diagnosis of Marinesco-Sjögren syndrome.

Biopsy↗

PubMedDate not supplied

Infantile neuroaxonal dystrophy: axonal changes in biopsied muscle tissue.

Dystrophic axons were found in the biopsied muscle tissue of a 17-month-old hypotonic infant after confirmation of a diagnosis of infantile neuroaxonal dystrophy (INAD) by subsequent peripheral nerve biopsy. He manifested gradual deterioration and had brief tonic seizures. The sural nerve biopsy, performed at age 42 months, confirmed INAD. Intensive ultrastructural investigation of the preceding muscle biopsy specimens demonstrated infrequent but definite findings of axonal degeneration in the musculature. Ultrastructural investigation of muscle biopsy should include a careful search for neural tissue because in INAD axonal changes occur primarily in the presynaptic region.

Axons↗

PubMedDate not supplied

Asymptomatic Becker muscular dystrophy: expression of dystrophin and dystrophin-related protein.

The expression of dystrophin and a dystrophin-related protein in muscle from 3 asymptomatic Becker muscular dystrophy patients is reported. Histology demonstrated moderate variation in fiber size with clustered basophilic regenerating fibers. Immunostaining for dystrophin revealed a patchy appearance on most fibers, but never on clustered regenerating fibers. Those regenerating fibers did, however, have positive immunoreactivity to a dystrophin-related protein. It is speculated that overexpression of the dystrophin-related protein in regenerating muscle fibers may contribute to the slow progression of muscle weakness or atrophy.

Biopsy↗

PubMedDate not supplied

Benign partial epilepsy with affective symptoms: hyperkinetic behavior during interictal periods.

We report a 4-year-old boy with benign partial epilepsy (BPE) with affective symptoms associated with hyperkinetic behavior during interictal periods. He had had hypermobility and restlessness since about age 3. At 4 years, 6 months, he developed episodes consisting of an expression of terror without complete loss of consciousness. Although we first suspected an acute psychic problem, the ictal EEG was abnormal. After carbamazepine (CBZ) therapy, the frequency of the attacks decreased dramatically and the hyperkinetic behavior gradually diminished.

Affective Symptoms↗