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author:("dash, P")
1.  Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. 
Journal of Clinical Pathology  1997;50(3):252-254.
A case of mucopolysaccharidosis type VII (MPS VII, beta glucuronidase deficiency) causing fatal hydrops fetalis in the third trimester is presented. The diagnosis was suspected on histopathological examination by the presence of foam cells in many of the viscera and foamy change in the placental Hofbauer cells. Electron microscopy showed empty cytoplasmic inclusion bodies within macrophages and in the Hofbauer cells. Enzyme assay of cultured fibroblasts showed markedly deficient beta glucuronidase activity, thus confirming the diagnosis. A detailed and thorough histopathological examination of hydrops fetalis cases is important to detect subtle features of inherited metabolic disorders. Use of a structured necropsy protocol is recommended for cases of non-immune hydrops. Electron microscopy is a useful adjunct to light microscopy in cases where an inherited metabolic disorder is suspected. Precise necropsy diagnosis is important as there are implications for genetic counselling and possible prenatal diagnosis in subsequent pregnancies.
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PMCID: PMC499823  PMID: 9155679
2.  Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue? 
Journal of Medical Genetics  1989;26(1):51-54.
We describe two sisters with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis.
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PMCID: PMC1015537  PMID: 2918526
3.  Neonatal systemic candidiasis 
Archives of Disease in Childhood  1982;57(11):884-886.
Two extremely preterm infants undergoing intensive care who developed systemic candidiasis are reported. Each was treated initially with intravenous miconazole. One child initially responded, but relapsed after the miconazole was stopped. The second child showed evidence of progression of the disease during treatment. Both infants responded to a combined course of amphotericin B and 5-fluorocytosine. We consider that miconazole is not the drug of first choice in the treatment of neonatal systemic candidiasis.
PMCID: PMC1628032  PMID: 7149766
4.  Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper. 
Archives of Disease in Childhood  1978;53(12):956-958.
In an infant with Menkes's steely-hair syndrome, early treatment (from 21 days of age) with parenteral copper failed to halt the disease. In addition to urinary tract abnormalities, panlobular emphysema was present a finding not previously noted in the syndrome.
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PMCID: PMC1545159  PMID: 747401

Results 1-4 (4)