منابع مشابه
Introducing Two Cases of Farber Disease
Lipogranulomatosis or Farber's disease in a rare autosomal recessive disorder characterized by swollen, tender joints, periarticular and subcutaneous nodules, horsncss and progressive aphonia. Hepatosplcnomcgaly and C.N.S. involvements arc also reported in certain patients. The disorder is caused by a deficiency of acid ceramidase which may be best diagnosed by missing ceramidasc activity at a...
متن کاملPrevalence of Kaschin-Beck disease among Tibetan children in Aba Tibetan and Qiang Autonomous Prefecture: a 3-year epidemiological survey.
BACKGROUND Kaschin-Beck disease (KBD), a special type of osteoarthritis, is a disabling degenerative disease and it can cause severe dysarthrosis of joints. This study was undertaken to investigate the prevalence of KBD among Tibetan children in the Aba Tibetan and Qiang Autonomous Prefecture in Sichuan Province and to provide evidence for KBD control in the western regions of China. METHODS ...
متن کاملT Sachs disease in two children: report two cases
Background and aim: Tachyx is a rare autosomal recessive and neurological disorder caused by glycosfenolipid accumulation (GM2 ganglioside) in cell lysosomes. The accumulation of GM2 ganglioside is due to the mutation in the beta-hexose aminase gene (HEXA), which reduces the activity and deficiency of the HEXA enzyme. The aim of this study was to report 2 cases of T.Sax disease. Case report:...
متن کاملReport of Two Cases of Kala-azar Disease and its Epidemiology in Iran
This article deals with the case histories of two Kala-azar patients treated in ward 3 of the No. 4 Social Insurance children's Hospital in Tehran. Full details of the disease and treatment have been reported : The First Case was a 4 years old female frcm Abadan. Symptoms preeent on admission were: paleness, fever, weight-loss, shivering, hepatosplenomegaly, oedema and tachycardia. Initial ex...
متن کاملA report of two cases of pyknodysostosis in two children
pyknodysostosis is a rare bone disease characterzed with short stature,wide fontaneles,small chin,hyperdensity of bones,erosion of tufts of the disatl phalanges,and narrowing of the mandibular angle. pyknodysostosis is inheritted as an autosomal recessive disease and may be seen in both sexes at any age.the patients have normal life span.short stature and bone fractures are their major problems...
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ژورنال
عنوان ژورنال: Orthopedics & Traumatology
سال: 2002
ISSN: 1349-4333,0037-1033
DOI: 10.5035/nishiseisai.51.672