[Initial manifestations of chronic inflammatory rheumatism in children associated with the presence of HLA-B27 antigen].
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Biomedical subjects
Publications and source records attributed to M Micheau.
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Skin and muscle biopsies were performed in 18 patients affected by various inborn storage disorders: mucopolysaccharidosis (MPS), sphingolipidosis, GM1 gangliosidosis, I-cell disease, ceroid-lipofuscinosis (CLF), adrenoleucodystrophy (ALD) and glycogenosis. In most cases, cutaneous and muscle biopsies demonstrate clearly the presence of storage inclusions in different cell types with great reproducibility and sometimes a specificity for a particular disease. Thus, electron microscopic examinations of skin and muscle, often complementary, can given valuable informations at two levels: - either a morphological confirmation depending on the type of the storage disease: e. g. clear, granular and fuzzy inclusions identified with mucopolysaccharidic material, lamellar and pseudomyelinic figures corresponding to lipidic structures are found in different cell types in MPS, gangliosidosis and sphingolipidosis; - or a diagnostic proof of some lysosomal diseases where there are very specific ultrastructural features such as the curvilinear bodies and fingerprint profiles in CLF or the spicular inclusions in ALD. These informations are the more important as the enzymatic defect is unknown in these inherited disorders. We conclude that the ultrastructural examination of a skin and muscle biopsy are an important tool for the diagnosis of a lysosomal storage disease which avoids any more difficult biopsies as brain, kidney, liver.
The authors report the case of a 19 m. old girl developing a Lyell syndrome associated with a S. aureus belonging to phage group I-III. A survey of the literature is made: the toxic exfoliation is not a characteristic of S. aureus, phage group II. It seems that there are two different toxins for which some physicochemical features are well known. An immunologic immune deficiency is frequently observed in adults. The child reported, manifested some signs of depressed cellular immunity.
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Acute acalculous gallbladder disease is rarely encountered in children. Two observations permit a review of its clinical, diagnostic, and therapeutic aspects. Acute acalculous cholecystitis and acute gallbladder distension present clinically in a similar fashion, although, in the latter the fever is usually absent and there is a history of episodic pain. The pathogenesis of these affections remains uncertain but generalized infection and anomalies of the cystic duct seem to be favoring circumstances. The diagnosis, rarely initially made, could be confirmed by oral cholecystography showing an non visualized gallbladder. Surgery is necessary in order to confirme or refute the diagnosis. The therapeutic approach can be either the simple drainage of the gallbladder or a cholecystectomy. Due to the risk of allowing a cervicocystic obstacle persist, it seems that a cholecystectomy, which is well tolerated by the child, would be preferable.
A new case of partial trisomy 9q was found in a child presenting two de novo aberrations: a deletion of the long arms of 9 and a 9,21 translocation. A tentative cytogenetic explanation is put forward.
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Computerised axial tomography (CAT scan) was performed in 22 children with acute lymphoblastic leukaemia and in 13 the results were normal. In the other nine, various lesions were observed; namely intra-parenchymal lesions of density of (3 cases, one of which was calcified), intra-parenchymal lesions of decreased density (2 cases) and ventricular dilatation (7 cases). The role of the disease and of the treatment (intra-thecal methotrexate, cranial irradiation) in the development of these lesions is discussed. The CAT scan is an excellent method of monitoring the neurological problems in acute lymphoblastic leukaemia.