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:: Volume 24, Issue 2 (Iranian South Medical Journal 2021) ::
Iran South Med J 2021, 24(2): 126-133 Back to browse issues page
Niemann Peak Disease Type A in Necropsy of the Liver of a Four-Month-Old Female with Fe-ver and Pancytopenia
Amer Yazdanparast1 , Gholamreza Fathpour 2, Parvin Jalali1
1- Dpartment of Pediatrics, school of Medicine, Bushehr University of Medical Sciences, Bushehr Iran
2- Dpartment of Pediatrics, school of Medicine, Bushehr University of Medical Sciences, Bushehr Iran , dr.reza.fathpour@gmail.com
Abstract:   (1293 Views)
Niemann-pick disease is a severe disorder in sphingolipid metabolism and esterification of cholesterol which results in accumulations of sphingomyelin in different tissues. This disease is characterized with hepatosplenomegaly, fever and foam cell appearance in microscopic examination of bone marrow, liver and spleen. The case presented in this study is a four-month-old female infant with chief complaint of fever, pancytopenia, and severe abdominal distension, and anemia since 10 days before admission to our hospital. The case was the third child of the family born with cesarian section and without any significant health problems before hospitalization. Her siblings had both died in the hospital, but the cause of death is unknown. Significant laboratory findings include WBC=1500 (neutrophil 70%), RBC=2,000,000, Hb=5.5 g/dl, Plt= 30,000, CRP=3+, ESR=45, ALT=300 IU, and AST-150 IU. No other abnormal findings were observed in laboratory report. Thoracoabdominal X-ray revealed significant hepatosplenomegaly. Her parents were cousins. Soon after admission to our hospital, she received a wide spectrum antibiotic, but underwent ventilator due to sepsis. Unfortunately,  our therapeutic management was not successful, and the patient died due to septicemia the next morning. After obtaining written consent of the parents, the patient underwent necropsy, which revealed lipid storage disease, Niemann-pick disease. The purpose of our study was to emphasize the importance of necropsy and follow-up until a definite diagnosis.
Keywords: Pancytopenia, Hepatosplenomegaly, Niemann-pick, Necropsy, Niemann-pick disease
Full-Text [PDF 396 kb]   (368 Downloads)    
Type of Study: Case Report | Subject: Pediatrics
Received: 2021/03/31 | Accepted: 2021/05/2 | Published: 2021/05/26
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Yazdanparast A, Fathpour G, Jalali P. Niemann Peak Disease Type A in Necropsy of the Liver of a Four-Month-Old Female with Fe-ver and Pancytopenia. Iran South Med J. 2021; 24 (2) :126-133
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Volume 24, Issue 2 (Iranian South Medical Journal 2021) Back to browse issues page
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