Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture
| Autor: | J.P. Dereume, E. Vamos-Hurwitz, H. Loeb, S. Mockel-Pohl, Marianne Tondeur, N. Cremer |
|---|---|
| Rok vydání: | 1971 |
| Předmět: |
Male
Chondrodystrophy Pathology medicine.medical_specialty Hydrolases Mucopolysaccharidosis I Kidney Glomerulus Biology Cytoplasmic Granules Tissue culture Culture Techniques Intellectual Disability Fibrocyte medicine Humans Microscopy Phase-Contrast Glycosaminoglycans Skin Inclusion Bodies Cell phenotype Brain Mucolipidoses Fibroblasts medicine.disease Phenotype Galactosidases Facial Expression Microscopy Electron Liver Child Preschool Pediatrics Perinatology and Child Health Ultrastructure I-cell disease |
| Zdroj: | The Journal of Pediatrics. 79:366-378 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/s0022-3476(71)80143-9 |
| Popis: | A description is given of a boy who presented early and severe clinical and radiological signs of chondrodystrophy without increased mucopolysacchariduria. Liver acid β-galactosidase activity was decreased. Ultrastructural studies disclosed the presence of clear membrane-bound inclusions, particularly numerous in fibrocytes and glomerular epithelial cells. In hepatocytes and neurons only a few pleiomorphic inclusions were present. In skin tissue culture, living cells were filled with dark granules showing an aspect characteristic of the “I-cell” phenotype. Findings that distinguish this clinical pattern from the typical mucopolysaccharidoses are discussed. |
| Databáze: | OpenAIRE |
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