A CASE REPORT OF A RARE SHWACHMAN-DIAMOND SYNDROME WITH LIVER INVOLVEMENT

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FALAHI GH.H.; MODARESI SARYAZDI V.; KIYANI M.A.; PAKSERESHT B.; GHADERIYAN S.

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Journal: Journal of Shahrekord University of Medical Sciences Year:2012 | Volume:14 | Issue:4 Page(s): 96-102

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Title

A CASE REPORT OF A RARE SHWACHMAN-DIAMOND SYNDROME WITH LIVER INVOLVEMENT

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Keywords

FATTY LIVERQ3

GROWTH RETARDATIONQ2

SDSQ2

SHWACHMAN-DIAMOND SYNDROMEQ2

Abstract

Background and aims: SHWACHMAN-DIAMOND SYNDROME (SDS) is a rare autosomal recessive disorder which presented with multiple organ involvement including exocrine pancreatic dysfunction and bone marrow failure. Liver involvement is less common sign and may be missed. In this study we report an infant with SDS and liver involvement.Case report: An 11 month old infant boy, with acute diarrhea, dehydration and disorders in weight gaining and fatty defection was referred to hospital when he was 4 months old.He was checked because of his big liver and increment of liver enzymes. Considering the fatty stool, osteopenia, patient's abnormal face, appearing neutropenia and being dropped the fibrosis cystic disease diagnosis, so Shwachman diamond syndrome was diagnosed Conclusion: Introducing this patient beside diag nosis this rare diseases which will be result in retardation of children growth, also recall the liver involvement sometimes results in initial manifestation of GROWTH RETARDATION.

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APA: Copy

FALAHI, GH.H., MODARESI SARYAZDI, V., KIYANI, M.A., PAKSERESHT, B., & GHADERIYAN, S.. (2012). A CASE REPORT OF A RARE SHWACHMAN-DIAMOND SYNDROME WITH LIVER INVOLVEMENT. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, 14(4), 96-102. SID. https://sid.ir/paper/58621/en

Vancouver: Copy

FALAHI GH.H., MODARESI SARYAZDI V., KIYANI M.A., PAKSERESHT B., GHADERIYAN S.. A CASE REPORT OF A RARE SHWACHMAN-DIAMOND SYNDROME WITH LIVER INVOLVEMENT. JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2012;14(4):96-102. Available from: https://sid.ir/paper/58621/en

IEEE: Copy

GH.H. FALAHI, V. MODARESI SARYAZDI, M.A. KIYANI, B. PAKSERESHT, and S. GHADERIYAN, “A CASE REPORT OF A RARE SHWACHMAN-DIAMOND SYNDROME WITH LIVER INVOLVEMENT,” JOURNAL OF SHAHREKORD UNIVERSITY OF MEDICAL SCIENCES, vol. 14, no. 4, pp. 96–102, 2012, [Online]. Available: https://sid.ir/paper/58621/en

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