We describe the renal biopsy findings in a 14-year-old girl with Neimann-Pick disease. The renal biopsy showed chronic changes involving all components of the parenchyma, including focal global glomerulosclerosis, tubular atrophy, interstitial fibrosis and vascular sclerosis. On light microscopy, significant findings included foamy podocytes, vacuolated tubular epithelial cells and collections ...

PURPOSE The purpose of this case report is to bring to light this unusual combination of two rare diseases, namely Neimann-Pick disease Type B and clear cell chondrosarcoma occurring in the same patient. This has not previously been reported in the world literature. SUBJECT Niemann-Pick disease (NPD) is a rare autosomal recessive inborn error of metabolism. Type B NPD is even rarer. It is a l...

how to cite this article: taghdiri mm. other experimental therapies in neimann pick diseases. iran j child neurol. 2015 autumn;9:4(suppl.1): 25.   pls see pdf.

how to cite this article: salehpour sh. diagnostic methods for neimann-pick type c. iran j child neurol. 2015 autumn;9:4(suppl.1): 16-17.   pls see pdf.

how to cite this article: tonekaboni sh. approach to npc disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 7. pls see pdf.

A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...

native-valve-endocarditis-using transesophageal echocardiography: implications for surgical treatment. Thorac Cardiovasc Surg 1991;39:273-80. 15 John RM, Pugsley W, Treasure T, Sturridge MF, Swanton RH. Aortic root complications of infective endocarditis-influence on surgical outcome. Eur Heart J 1991; 12:241-8. 16 Wong CM, Oldershaw P, Gibson DG. Echocardiographic demonstration of aortic root ...

This study was planned to determine the presence and extent of cardiac involvement in metabolic storage diseases, including types I and II glycogenoses, Gaucher and Neimann-Pick diseases, galactosialidosis and mucopolysaccharidosis. M-mode, 2-dimensional and Doppler echocardiographic studies were used for the determination of left ventricular wall thickness, systolic function, anatomic derangem...