We report a 54-year-old male with progressive, adult onset distal muscle weakness and intermittent paresthesia associated with preferential type II fiber centronuclear (myotubular) change and segmental demyelination in sural nerve. Morphometric analysis, single fiber teasing and graphic analysis of internode lengths confirms the segmental demyelination with no evidence of ongoing repetitive Schwann cell remyelination. Cases of adult onset centronuclear myopathy are reviewed. This cas provides evidence for a neurogenic component in the pathogenesis of the centronuclear neuromyopathies.

Demyelinating Diseases↗

PubMed1982

Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.

We report a 7-year-old boy with progressive, early onset somatic and cranial muscle weakness associated with external ophthalmoplegia, facial weakness, type I fibre hypotrophy and myofibril degeneration. We separate this condition from congenital fibre type disproportion because of the facial weakness, ophthalmoplegia, central nucleation, and lysis in type I fibres. The case, which is similar to that described by Bender and Bender (1977), nosologically should be classified between the centronuclear myopathies and congenital fibre type disproportion, and most likely represents a congenital or neonatal disturbance of trophic interaction between nerve and muscle.

Blepharoptosis↗

PubMed1980

[A study on the reamer (author's transl)].

Explore the source record for details and available documents.

Root Canal Therapy↗

PubMed1978

[Sjögren-Larsson syndrome].

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Humans↗

PubMedDate not supplied

Computed tomography and magnetic resonance imaging of affected muscle in childhood acid alpha-glucosidase deficiency: a case report.

A 13-year-old boy with the juvenile type of acid alpha-glucosidase deficiency is presented. Muscle CT scans performed before muscle biopsy revealed high image density over the entire rectus femoris, and partial high density over the iliopsoas, adductor magnus and tibialis anterior. MRI of the rectus femoris in the transaxial plane showed high image intensity over the entire length of the muscle in both T1- and T2-weighted images. A biopsy revealed a surprising histological difference between the rectus femoris, which showed pronounced vacuolar myopathy with excessive glycogen, and the vastus lateralis, in which deposition of glycogen was minimal and the CT image indicated a normal muscle density. The findings in this case suggest that CT scanning and MRI are useful in recognizing muscle involvement in acid alpha-glucosidase deficiency, which is characterized by images of increased density compared to normal muscle, presumably because excessive deposition of glycogen and lysosomal membranes cause high X-ray absorption on CT and high signal intensity on MRI.

Adolescent↗

PubMedDate not supplied

Evaluation of patients with lactic acidosis using microphotometric mitochondrial enzyme assay in single muscle fibers.

Microphotometric enzyme assay in single muscle fibers was performed on two patients with lactic acidosis. Neither case showed ragged red fibers upon histochemical evaluation. Biochemical analysis of mitochondrial enzymes demonstrated low normal cytochrome c oxidase (COX) activity in Case 1 and deficient COX in Case 2. Quantitative single muscle fiber analysis in patients showed marked variation in COX activity in Case 1, reflecting mosaic distribution of fibers with near-normal COX activity and with defective COX activity. These data suggest that this microphotometric assay may be valuable for elucidating the significance of 'partial enzyme deficiency'. In addition, this assay method may be applied to needle biopsy specimens.

Acidosis, Lactic↗

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

Determination of (+)- and (-)-bromoisovalerylurea in sera of overdosed subjects.

Bromoisovalerylurea (bromisovalum) is a sedative-hypnotic given orally as a racemic mixture of optical isomers (i.e., (+)- and (-)-enantiomer) and frequently taken in overdose in order to commit suicide. Sera from 16 overdosed subjects were analyzed for each enantiomer by high-performance liquid chromatography on chiral stationary phases. The (+)-enantiomer concentration was lower than the (-)-enantiomer concentration in all specimens, that is, the ratio of the (+)-enantiomer to the total concentration ranged from about 50% to 0%. The ratio of the (+)-enantiomer was continuously decreasing in each subject. The data indicate that the drug in gastrointestinal tract was absorbed into blood nonstereoselectively and that the drug in blood was eliminated stereoselectively. The enantioselective determination of this drug will give useful information on absorption and elimination.

Bromisovalum↗

PubMedDate not supplied

Epileptic seizures precipitated by constant light, movement in daily life, and hot water immersion.

We describe a patient with epilepsy characterized by eyelid myoclonus, which often evolved into complex partial seizures, hemiconvulsions, or generalized convulsions. The outstanding feature was that seizures became markedly more frequent on exposure to light, movement in daily life, and hot water immersion. The patient was highly susceptible to seizures under constant light, but the dopamine level in the cerebrospinal fluid was quite low, and administration of levodopa transiently suppressed the seizures.

Dopamine↗