[Interest of ultrastructural study of skin and muscle biopsies in inborn storage diseases. A report of 18 cases (author's transl)].
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.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005733:Gangliosidoses / Q000473:pathology; D006008:Glycogen Storage Disease / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D008064:Lipidoses / Q000473:pathology; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D008854:Microscopy, Electron; D009081:Mucolipidoses / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000473:pathology; D009132:Muscles / Q000648:ultrastructure*; D012867:Skin / Q000648:ultrastructure*; D013106:Sphingolipidoses / Q000473:pathology
Intérêt de l'étude ultrastructurale des biopsies cutanée et musculaire dans les maladies de surcharge congénitales. A propos de 18 cas.