CASE REPORT: FARBER’S DISEASE

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SAKHA KAZEM; ASLANABADI SAEED

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Paper Information

Journal: MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES Year:2011 | Volume:33 | Issue:2 Page(s): 101-103

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Information Journal Paper

Title

CASE REPORT: FARBER’S DISEASE

Author(s)

SAKHA KAZEM | ASLANABADI SAEED | Issue Writer Certificate

Keywords

FARBER’S DISEASEQ2

SUBCUTANEOUS NODULESQ2

HOARSENESSQ2

ARTHRITISQ2

Abstract

FARBER’S DISEASE or Lipogranulomatosis is one of the rare lysosomal storage disorders caused by acid ceramidase deficiency resulting in accumulation of ceramid in tissues. FARBER’S DISEASE is an autosomal recessive disease. Children with significant neurologic involvement usually die early in infancy, whereas patients without or only mild neurological findings suffer from progressive joint deformation due to periarticular granulomas, SUBCUTANEOUS NODULES, HOARSENESS and finally respiratory insufficiency caused by granuloma formation in respiratory tract and interstitial pneumonitis leading to death in the third or fourth decade of live. In this paper, we report a 2.5-year old female with HOARSENESS from early infancy and thereafter SUBCUTANEOUS NODULES and ARTHRITIS (classic type of the disease).

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APA: Copy

SAKHA, KAZEM, & ASLANABADI, SAEED. (2011). CASE REPORT: FARBER’S DISEASE. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, 33(2), 101-103. SID. https://sid.ir/paper/47414/en

Vancouver: Copy

SAKHA KAZEM, ASLANABADI SAEED. CASE REPORT: FARBER’S DISEASE. MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2011;33(2):101-103. Available from: https://sid.ir/paper/47414/en

IEEE: Copy

KAZEM SAKHA, and SAEED ASLANABADI, “CASE REPORT: FARBER’S DISEASE,” MEDICAL JOURNAL OF TABRIZ UNIVERSITY OF MEDICAL SCIENCES, vol. 33, no. 2, pp. 101–103, 2011, [Online]. Available: https://sid.ir/paper/47414/en

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