 |
|
I-Cell DiseaseReport of Three Cases
Yoji Terashima, MD;
Katsuya Tsuda, MD;
Shin Isomura, MD;
Yasuo Sugiura, MD;
Hiroshi Nogami, MD
Am J Dis Child. 1975;129(9):1083-1090.
Abstract
• Clinical, radiological, histochemical, ultrastructural, and biochemical studies were conducted on three cases of I-cell disease. I-cell disease can be readily distinguished from Hurler syndrome (mucopolysaccharidosis I) by the presence of hypertrophic gums, vacuolated lymphocytes in peripheral blood, and a normal level of urinary mucopolysaccharides. Accumulation of proteoglycans was more prominent in the inclusion bodies of I-cell chondrocytes in comparison to cultured fibroblasts, which contained a large amount of glycolipids and a small amount of proteoglycans. An autosomal recessive mode of inheritance was suggested in two of the cases.
(Am J Dis Child 129:1083-1090, 1975)
Author Affiliations
From the departments of orthopaedic surgery (Drs. Terashima, Sugiura, and Nogami) and pediatrics (Drs. Tsuda and Isomura), Central Hospital and Institute for Developmental Research, Kasugai, Japan. Dr. Isomura is now with Aichigakuin University, Japan, and Dr. Sugiura is now with Nagoya University, Japan.
Footnotes
Received for publication July 1, 1974; accepted Oct 24.
Reprint requests to Central Hospital, Aichi Prefecture Colony, 713-1 Kamiya-Cho, Kasugai, Aichi 480-03, Japan (Dr. Nogami).
 CiteULike  Connotea  Delicious  Digg  Facebook  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2500 cases from a single centre
Anderson et al.
J. Clin. Pathol. 2005;58:1305-1310.
ABSTRACT
| FULL TEXT
Mucolipidosis Type III: Multiple Elevated Serum and Urine Enzyme Activities
Herd et al.
Arch Pediatr Adolesc Med 1978;132:1181-1186.
ABSTRACT
|
