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Biomedical subjects

W Mortier

Publications and source records attributed to W Mortier.

At least 55 records · Page 3Linked to original sources
PubMed1982

[Chronic cholestasis and progressive neuromyopathy. Diagnostic problems and therapeutic possibilities in a vitamin E deficiency disease (author's transl)].

A 15-year-old female developed a slowly progressive gait disturbance starting from the age of two. She was suffering from congenital choleostatic jaundice. Neurological examination revealed cerebellar ataxia, hyporeflexia and hyposensitivity. The initial vitamin E level in serum was extremely low with 0.4 mcg/ml (normal 5-20 mcg/ml). Muscle biopsy changes were similar to those in experimental vitamin E deficient animals. Pathological data of children with longstanding choleostatic jaundice showed degeneration of the posterior column and selective loss of large-caliber, myelinated axons in peripheral nerves. Similar to one other report in the literature the only effective treatment was the intramuscular injection of 50-100 mg Vitamin E twice a week which normalized the serum levels, stopped the progression of the disease and showed improvement of some neurological functions after half a year. A very early treatment seems to be important to keep these children walking.

Adolescent↗
PubMed1979

Neonatal respiratory insufficiency due to centronuclear myopathy.

Two neonates showing generalized hypotonia, weakness of limbs, trunk, and oral musculature died because of muscular respiratory distress. The diagnosis of centronuclear (or myotubular) myopathy was established by histological and histochemical techniques. The genetic situation and routine laboratory data including electromyography were compared with similar cases in the literature; findings were inconclusive with respect to this diagnosis. These results indicate the need for a muscle biopsy and the use of histochemical stainings and/or electronmicroscopical investigation for a proper diagnosis in hypotonic newborns under respiratory distress after exclusion of etiologies other than neuromuscular diseases. Still the diagnosis of centronuclear myopathy in a neonate does not allow a precise prognosis. Increased awareness of this disorder and adequate diagnostic workup is needed in order to extend our understanding and to clarify the prognosis.

Humans↗
PubMed1977

[Electrodiagnostic procedures: special problems in infants and children (author's transl)].

Electrodiagnostic procedures like elektromyography, studies of nerve conduction velocity, neuromuscular transmission and special reflexes may be performed from the first day of life. The diagnostic value of these investigations in childhood depends especially on the consideration of technical, psychological and developmental particularities. The choice of suitable electrodes according to the age, control of temperature, a rapid and child-adapted course of examination as well as a founded differential diagnosis before starting special procedures are as important as the knowledge of normal values in different age groups. Results of electrodiagnostic studies may be limited not only by lack of cooperation of young patients but also by the state and localization of a disease.

Adolescent↗
PubMed1975

[Centronuclear myopathy with autosomal dominant inheritance(author's transl)].

For the first time in Germany cases of a "centronuclear myopathy" are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a "sleepy facial expression", clumsy gait and rapid fatigue. Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia. Weakness and atrophy were most pronounced in the distal muscles of the lower extremities. Both patients were free of epilepsy and the EEG recordings were normal. Motor and sensory nerve conduction velocities were normal. Repetitive stimulation of nerves revealed a normal transmission from nerve to muscle. Muscle biopsy showed a type I muscle fiber hypotrophy and a type II muscle fibre hypertrophy in addition to a predominance of type I fibres. Both fibre types showed central nuclei, sometimes appearing as chains in longitudinal sections. In most cells with central nuclei there persists a very small pericentral zone free of myofibrils but with increased activity of oxidative enzymes and phosphorylase. 2--3% of muscle fibres in cross sections showed a decreased of absent enzyme activity in the most peripheral fibre zone. Electron microscopy showed evidence of a centrally distinct myofibrillar disintegration. The father of both children had a ptosis at least from the 20th year of age. 5 years later generalized progressive muscle atrophy was recorded. Aged 51 years he died of pneumonia. Though not proved most probably the father suffered from the same disease as the children, pointing to an autosomal dominant inheritance in this family. The disease, according to the literature, seems to be genetically heterogeneous. The clinical picture seems to be independent of the mode of inheritance. Our patients showed a relatively rapid progression of symptoms. Pathogenetically the "centronuclear myopathy" may result from a disturbance of correlated nerve-muscle structures starting during early fetal life.

Adolescent↗