An unusual case of lower motor neuron disease.

An 11-year-old boy developed a rapidly progressive asymmetrical flaccid tetraparesis that ended fatally within 1 year. The classification of this unusual case is discussed.

Gamma-glutamyl transpeptidase. Elevated activity in myotonic dystrophy.

gamma-Glutamyl transpeptidase, a membrane-bound enzyme playing an important role in the active amino acid transport across cellular membranes, is shown to be elevated in the serum of patients with myotonic muscular dystrophy. No increase of AP, LAP, GOT and GPT activities in the sera of some of the patients studied is observed. Possible interpretations in relation to the pathogenesis of myotonic dystrophy are discussed.

Nucleo-cytoplasmic ratio in ageing skeletal muscle.

In order to investigate possible changes in the nucleo-cytoplasmic ratio of the muscle fibres during ageing, samples of quadriceps femoris from 15 normal individuals whose age ranged from 17 to 82 years were studied (autopsy material). The mean lesser diameter and the number and size of the muscle fibre nuclei were calculated using a planimetric technique. It was found that nucleo-cytoplasmic ratio increased significantly after the age of 60 years. This was due to a decrease in the mean fibre size whilst the number and the size of myonuclei remained unchanged. The resemblance of this finding to denervation atrophy changes is noted.

Skeletal mass conversions in hepatolenticular degeneration.

The influence of hepatolenticular degeneration, a hereditary disease, and the skeletal mass, has been studied in the present work by determining various parameters of the skeletal mass. As such, the results of the morphometric observation on the second left metacarpal have been considered. The results have shown: a significant decrease of the skeletal mass (osteoporosis), an increased innter diameter (d) which reveals an equally increased osteal absorption (osteolysis) and no connection of the sex, type and duration of the disease with the skeletal mass.

Cataract and gamma-glutamyl cycle in myotonic dystrophy.

Gamma-Glutamyl transpeptidase (gamma-GT) may be responsible for the rapid catabolism and low levels of lenticular glutathione often associated with cataract formation. Elevated levels of serum gamma-GT in patients with myotonic dystrophy suggest that since the defect could be present in all tissues it might be responsible for the cataracts frequently observed in this genetic disease.

[Radiological study of the cervical spinal column in some neurological degenerative diseases (author's transl)]. / Etude radiologique de la colonne vertébrale cervicale dans certaines maladies dégénératives neurologiques

This study presents the findings from a neuroradiological investigation of the cervical spinal canal in a number of diseases of the nervous system. It concerns the measurement of the sagittal and transversal diameters of the spinal canal at levels C3 through C6. The material for this investigation was made up of two main groups: A) 400 controls and B) 110 patients. The second group consisted of the following: 1) 20 patients suffering from Friedreich's Ataxia, 2) 14 patients with Steinert's disease, 3) 44 patients with lateral amyotrophic sclerosis, 4) 14 patients suffering from Charcot-Marie-Tooth's disease, and 5) 18 patients with muscular dystrophy. The results are as follow: 1) In patients with Friedreich's Ataxia both the sagittal and transversal diameters are smaller than those of the controls. 2) On the contrary, in Charcot-Marie-Tooth's disease the sagittal diameter is larger than the controls. 3) The transversal diameter in patients with muscular dystrophy is smaller than the controls and 4) the sagittal diameter of the vertebral canal decreases from the top (C3) downwards (C6) while the transversal diameter increases.

The spinal canal in familial spastic paraplegia.

The elucidation of possible involvement of the vertebral canal in familial spastic paraplegia is attempted. The sagittal and the transverse diameters of the cervical, thoracic and lumbar vertebral canal were estimated in 14 patients and 100 controls. The results showed that the vertebral canal of the patients is considerably smaller in its whole length and not only in the thoracic region. This finding is discussed in relation to the development of both the vertebral canal and spinal cord.

A pattern of facial fractures in Greece.

Four hundred and thirty-two patients with fractures of the facial skeleton, treated in our Department, were studied in relation to the cause, site and the connection of such injuries to fractures of the skull and other sites of the skeleton (limbs, etc.). The conclusions were: (a) The incidence was higher in men than in women, with ratio 3.6:1; (b) Most patients were in the 3rd decade of life, followed by those in the 4th and 2nd; (c) The leading cause encountered was traffic accidents (66%), other accidents at home and work, interpersonal violence and sporting injuries. Of the traffic accident victims, 55% were car drivers or passengers and 37.4% were involved in motorcycle and bicycle accidents, and only a rather small percentage were pedestrians; (d) Of our patients 13% had fractures in other sites of the skeleton, and 7% skull fractures. The percentage of multi-injured patients in our material was in accordance with the findings in other countries. We found that each of these patients had three to four fractures in his body. However, the low number of patients with skull fractures associated with facial fractures was attributed to a high mortality rate in cases of skull and neck injuries at the time of the accident, and following admission, which were not included in this study.