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Biomedical subjects

M Mumenthaler

Publications and source records attributed to M Mumenthaler.

At least 73 records · Page 4Linked to original sources
PubMed1980

[The Werner syndrome].

Werner's syndrome, also known as "progeria adultorum", manifests itself in young adults. They appear older than their chronological age. Characteristically, there is atrophy in the distal extremities and the face. There is progressive scleropoikiloderma and hyperkeratosis on the foot soles. In the face, there is frequently a "bird-like" expression. Other characteristics are premature graying and early loss of hair, juvenile cataracts, hypogonadism, diabetic symptoms, arteriosclerosis, osteoporosis, small stature with characteristic features, muscle atrophy and cardiac abnormalities. The disease is inherited in an autosomal recessive way. Pathogenesis is unclear. In the following paper, we are reporting the case of a 29 year old saleswoman, who complained of cramps in the calves, and presented the typical symptoms of Werner's syndrome.

Adult↗
PubMed1980

Complicated migraine (migraine accompagnée) in children. Clinical characteristics and course in 40 personal cases.

Forty cases of complicated migraine (c.m.) were analysed. The onset was before the age of 16 years, in the majority, however, after the 10th year. In 20 patients the first crisis of c.m. occurred in the absence of a previous history of migraine. 38 of the children had paresthesia during the crises, localized mostly to one hemisoma or a part thereof, in 3 bilateral from the beginning. In the majority of these patients the same hemisoma was always affected, the upper limb almost always. The preferred localisation of paresthesia in the face were the mouth and/or the tongue. A progression of paresthesia with a "march" of several minutes duration was frequent. In 5 children a paresis occurred, mostly at the upper part of one hemisoma, in another 4 children hemiplegia was present. In several cases signs of brainstem lesion occurred. Headache was mostly localized on the opposite side to the neurological signs. Vomiting and scotoma were frequent. In EEG done during the periods of crisis anomalies were demonstrated in the majority of our patients with a predominance of diffuse or focal slowing. In our patients there was a spontaneous tendency for c.m. to disappear upon reaching adult age. None of our 25 patients who had a neurological examination at the last check-up has shown residual deficits.

Adolescent↗
PubMed1979

Paramyotonia congenita. A clinical, electrophysiological and histological study of 12 patients.

The present paper describes the clinical, electrophysiological and histological findings made in 12 patients belonging to 2 genealogical lineages in Switzerland, suffering from paramyotonia congenita. This is the first report of this disease in Switzerland. The myopathy, transmitted by autosomal dominant inheritance, is characterized by a typical past medical history and by the persistent contraction of the muscles of the face, arms and legs provoked by exposure to cold. Also of diagnostic importance are the myotonic reactions inducible at room temperature, such as percussion myotonia, active myotonia and paradoxical myotonia. During paramyotonic episodes provoked by exposure of the subjects in a refrigeration chamber, serum potassium concentrations remained within normal limits. Potassium loading producing serum levels above 6 mEq/1 in 2 patients gave rise to stiffness and weakness of the arms and legs, but no signs of paralysis. Induced hypokalemia in 3 cases caused no paramyotonic symptoms. Electromyographic recordings in 5 patients showed myotonic discharges, which disappeared upon cooling of the limb, giving way to progressive muscular stiffness. Histological, histochemical and electronmicroscopical examination of the muscle tissue revealed only diagnostically unspecific myopathological changes.

Cold Temperature↗
PubMed1979

Quadriparesis and nuclear oculomotor palsy with total bilateral ptosis mimicking coma: a mesencephalic 'locked-in syndrome"?

Upper lid and vertical eye movements are usually preserved in patients with the "locked-in" syndrome, a condition manifested by anarthria, spastic quadriparesis, and intact mental function, and caused by lesions in the ventral portion of the pons. We describe a presumed mesencephalic "locked-in" syndrome in a patient who had total bilateral ptosis at the onset of his disease and later on experienced complete bilateral oculomotor nerve paralysis.

Aged↗
PubMed1979

Intracranial giant cell arteritis.

A case of giant cell arteritis of intracranial vessels diagnosed by autopsy is described. Giant cell arteritis of the proximal basal brain arteries was exceptionally marked in a man of 60 years. The clinical course, laboratory findings and the pathological alterations of the brain and intracranial blood vessels are described. The case is discussed on the basis of the literature on giant cell arteritis with cerebral symptoms as well as on granulomatous giant cells arteritis of the brain. A separation of these two entities does not seem justified.

Autopsy↗
PubMed1979

Transient global amnesia after clioquinol: five personal observations from outside Japan.

Five personal observations of an acute amnestic episode in younger individuals after intake of clioquinol are described together with three observations from the medical literature. In five of these cases the episode began after an unusually large dose, in three after a therapeutic one with a latency of about 24 hours. The clinical aspect closely resembled classical transient global amnesia but the episode after clioquinol lasted longer (24 hours to three days) and a more or less extensive retrograde amnesia persisted permanently. In one patient after three tablets of Mexase a clioquinol concentration of 12 microgram/ml in plasma was found 24 hours after the specified dose, which is an unexpectedly high concentration compared to those reported as late as 24 hours after a single equal dose of Mexase or any other clioquinol-containing preparation. Another patient had a brief relapse two years after the first episode, after a single therapeutic dose of another clioquinol preparation.

Adult↗