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C Joris

Publications and source records attributed to C Joris.

9 recordsLinked to original sources
PubMed1982

Pathology of peripheral nerves in metachromatic leucodystrophy. A comparative study of ten cases.

Results of qualitative and quantitative studies on 1 to 13 peripheral nerves from 10 cases (6 late infantile, 2 juvenile and 2 adult cases) of metachromatic leucodystrophy (MLD) are reported. Peripheral nerve biopsies are still useful despite the arylsulphatase A assays on leucocytes and cultured fibroblasts, since they provide extremely rapid and reliable diagnostic information. The following points are investigated: (1) are there differences in the severity and characteristics of demyelination according to MLD subtypes; (2) are there major differences in various nerves of one patient; (3) are some inclusions characteristic of a given MLD subtype; (4) is there a direct relationship between demyelination and storage of characteristic inclusions? While question 1 can be answered positively, the three following ones must receive a negative or at best an equivocal answer.

Adult↗
PubMed1976

Is congenital fibre type disproportion a true myopathy?

The authors report a case of congenital fibre type disproportion in a 32-month-old male patient. A pathogenetic role of alcohol ("fetal alcohol syndrome") could be discussed here because the mother drank daily large quantities of alcohol during pregnancy. Histochemical features undistinguishable from those reported in congenital fibre type disproportion were also observed in two cases of globoid cell leucodystrophy (Krabbe's disease) and in one case of infantile acid maltase deficiency (Pompe's disease). Morphometric studies confirmed this analogy. The occurrence of a similar fibre type disproportion in conditions so completely different from each other casts doubts as to the specificity of these histoenzymatic features. It is suggested that at least some cases of congenital fibre type disproportion could result from a maturational insufficiency of type I motor neurons or from a damage brought to the Schwann cells.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

[Centronuclear myopathy (author's transl)].

Three cases of centronuclear myopathy are reported in a sibship. The disease starts during the late childhood and has a very slow progressive course. Clinical examination reveals a ptosis of the eyelids, a weakness of the facial muscles, a high-arched palate and a diffuse involvement of the lower extremities. The respiratory muscles are involved in the two oldest siblings. Combined morphological studies of the tibialis anterior muscle in one patient demonstrate the following features: 1. the presence of small type I fibres and of large type I or type II fibres; 2. a predominance of type I fibers which represent 86% of the total amount of muscle fibres; 3. central nuclei in about 98% of the muscle fibres; 4. moderate ultrastructural changes. All these features are compared with the relevant data of the literature.

Adenosine Triphosphatases↗
PubMedDate not supplied

[Globoid cell leucodystrophy (Krabbe's disease). Peripheral nerve lesion (author's transl)].

Morphological study of peripheral nerves in two patients with globoid cell leucodystrophy (Krabbe's disease) demonstrates: 1degree segmentary demyelination; 2degrees marked loss of large (8-10 micra) myelinated fibres; 3degrees significant increase of the mean transverse fascicular area by proliferating collagen fibres; 4degrees electron-microscopic signs of remyelination with small onion-bulb formations. These findings can explain clinical features such as the disappearance of the deep tendon reflexes, the gradual transition of hypertonia into combined hypertonia-hypotonia and the concomitant slowing of nerve conduction velocity. The ultrastructural study reveals the presence of large and small inclusions which are either located within lysosomes or free in the cytoplasm of Schwann cells and fibroblasts. The inclusions are probably consequences of the disturbed metabolism of cerebrosides. Their appearance is sufficiently specific in order to allow a diagnosis of Krabbe's disease.

Axons↗