1/9. Orthopaedic management in four cases of mucolipidosis type III.Four patients with mucolipidosis type III, three of them brothers, were seen initially in the first two decades of life. Their main symptoms were carpal tunnel syndrome, trigger fingers and generalized joint stiffness. Radiographs showed spinal deformities and hip dysplasia, but these were not causing pain. carpal tunnel syndrome was treated surgically but joint stiffness and hip and knee contractures were managed by physiotherapy. Up to the age of 24 none of these patients has had pelvic osteotomy for hip dysplasia; this operation, not yet reported in mucolipidosis type III, may eventually be necessary.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/9. Prenatal ultrasound diagnosis of Leroy I cell disease.Leroy I cell disease is a rare autosomal recessive disorder which progressively leads to death within the first decade of life. Invasive prenatal diagnosis is possible but is only undertaken in families who have previously had an affected child. We describe the antenatal ultrasound diagnosis of the disease in a case referred at 30 weeks' gestation for suspected polyhydramnios.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/9. Severe gingival hyperplasia in a child with I-cell disease.I-cell disease (mucolipidosis II) is a rare metabolic disorder resulting from the deficiency of a specific lysosomal enzyme, N-acetylglucosamine-1-phosphotransferease. The disease presents as a mental and motor developmental delay with oral manifestations that include severe gingival hyperplasia usually seen before one year of age. The life expectancy of children with this condition is poor, with death usually occurring around the fifth year. A case report of a 3-year-old Pakistani male, with I-cell disease, is presented. The chief dental concerns of the parents were his swollen gums and delayed tooth eruption. Supportive treatment only was initiated. Differential diagnosis for severe gingival overgrowth in young patients should take account of this rare metabolic disorder in addition to hereditary and idiopathic fibromatosis and drug associated gingival overgrowth.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/9. Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation.A pregnant woman whose previous child had a diagnosis of I-cell disease was referred for evaluation of the fetus. Fluid obtained by amniocentesis and maternal serum showed abnormally increased levels of lysosomal enzymes suggesting that the fetus had I-cell disease. Sonography at 18 weeks showed abnormally short femurs and intrauterine growth retardation. The pregnancy was electively terminated at 19 weeks' gestation and the diagnosis was confirmed. Radiographs of the fetus demonstrated that the bony dysplasia is present early in fetal life with diffuse decrease in bone mineralization, a coarse, lacy, trabecular pattern, overall shortening and under-modelling of the long bones, subperiosteal bone deficiency in the diaphysis giving the appearance of periosteal new bone, hypoplasia of the anterior superior aspect of the upper lumbar vertebral bodies, broad ribs, abnormal pelvis with squared iliac wings and flattened acetabular roofs, and a small irregular calcaneal ossification center. There was good correlation between the radiographic findings and the microscopic findings in the bones. We observed deficient endosteal bone formation, small epiphyses, and poorly developed intervertebral discs. We speculate that this indicates impaired production of extra-cellular matrix by several different types of specialized mesenchymal cells. Abnormalities of transport of glycoproteins other than lysosomal enzymes or excess of extracellular acid hydrolases may be involved in the pathogenesis.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/9. Deficiency of density-dependent regulation of cell growth in the culture of skin fibroblasts from patients with mucolipidosis III.Cultured skin fibroblast cells were prepared from two patients with mucolipidosis III (ML III), which is a genetic disorder characterized by low activities of multiple lysosomal enzymes in fibroblasts. Genetic complementation analysis of fused fibroblast hybrids revealed that the patients were classified in different complementation groups. Growth curves of fibroblasts of ML III patients in culture were compared with those of fibroblasts of Sanfilippo's syndrome patients as well as of the normal fibroblasts. Normal and Sanfilippo fibroblasts gave essentially the same sigmoid curve of cell growth. However, although both ML III cell lines grew at the normal rate in the initial logarithmic phase, they continued to proliferate actively even after the cultures reached confluency. This is the first report to demonstrate the deficiency of density-dependent regulation of cell growth in the culture of nontransformed cell types. Therefore, the culture of skin fibroblasts of ML III patients may serve as a useful experimental model for investigating the regulation of cell proliferation in vitro.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
6/9. I-cell disease. A case report and review of the literature.I-cell disease has been reported by many authors but the electron microscopic findings have been reported only rarely. The patient under study was a female infant with a normal delivery after 38 weeks' normal intrauterine life. She showed the physical findings characteristic of I-cell disease, and the diagnosis was made by the analyses of lysosomal enzymes. The child died at the age of 2 years and 3 months due to respiratory insufficiency. By electron microscopy, various-shaped membrane-bound vacuoles were observed in the cytoplasm of various cells such as hepatocytes, myocardial muscle cells, epithelial cells of the renal glomeruli, proximal renal tubular cells, fibroblasts, and chondrocytes. By histochemical analyses we found that these intracytoplasmic storage vacuoles contained glycosaminoglycan and proteoglycan.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/9. Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases.Three unrelated southern Italian children manifested I-cell within the first month of life, but it was not recognized initially. Radiologic findings of osteopenia, subperiosteal new bone formation and resorption, and irregular metaphyses suggested systemic bone disease. Premature suture synostosis was evident at age 2-4 weeks. review of the literature and experience with these cases establish these findings as valuable and specific clue to the diagnosis of I-cell disease. By 6-10 months of age, the clinical and radiologic features were similar to those in Hurler syndrome. Cardiorespiratory death occurred in two cases.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/9. Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body.I-cell (mucolipidosis 2) is a rare, autosomal recessive neurodegenerative lysosomal storage disease. Neonatal skeletal radiographs are distinctive; a transient osteopathy that has features resembling hyperparathyroidism and rickets is present during the first year of life. The case of a 3-week old infant with I-cell disease is presented. Additional radiographic findings in this case include a butterfly vertebral body and dysharmonic epiphyseal ossification.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/9. Improved morbidity with the use of nasal continuous positive airway pressure in I-cell disease.patients with I-cell disease (mucolipidosis II) present with progressive morbidity failure to thrive, cardiomegaly, and recurrent respiratory tract infections leading to progressive deterioration and early death. We evaluated use of nasal continuous positive airway pressure (NCPAP) for 6 months in a 2-year-old girl with I-cell disease, obstructive sleep apnea (OSA), and craniofacial anomalies. We observed a marked decrease in hospitalizations for respiratory problems and a marked improvement in arterial blood gases with the use of NCPAP. In patients with I-cell disease, anatomical defects with superimposed upper respiratory tract infections cause worsening of OSA, and OSA contributes significantly to morbidity. In such patients NCPAP can lessen morbidity and can improve the quality of life.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |