Ordooei, Mahtab, Binesh, Fariba, Ashrafi, Azam, Ferdosian, Farzad, Saeida-Ardekani, Maryam (2020). A Case Report of Familial Chylomicronemia Syndrome. Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(2), 90-93. doi: 10.18502/wjpn.v3i2.6160
Mahtab Ordooei; Fariba Binesh; Azam Ashrafi; Farzad Ferdosian; Maryam Saeida-Ardekani. "A Case Report of Familial Chylomicronemia Syndrome". Shahid Sadoughi University of Medical Sciences- Journal Management System, 3, 2, 2020, 90-93. doi: 10.18502/wjpn.v3i2.6160
Ordooei, Mahtab, Binesh, Fariba, Ashrafi, Azam, Ferdosian, Farzad, Saeida-Ardekani, Maryam (2020). 'A Case Report of Familial Chylomicronemia Syndrome', Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(2), pp. 90-93. doi: 10.18502/wjpn.v3i2.6160
Ordooei, Mahtab, Binesh, Fariba, Ashrafi, Azam, Ferdosian, Farzad, Saeida-Ardekani, Maryam A Case Report of Familial Chylomicronemia Syndrome. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2020; 3(2): 90-93. doi: 10.18502/wjpn.v3i2.6160

A Case Report of Familial Chylomicronemia Syndrome

Journal of Integrated Maternal and Pediatric Care
Volume 3, Issue 2, December 2020, Pages 90-93    PDF (364.28 K)
Document Type: Case Report
DOI: 10.18502/wjpn.v3i2.6160
Authors
Mahtab Ordooei1, 2; Fariba Binesh3; Azam Ashrafi2; Farzad Ferdosian* 2, 4, 5; Maryam Saeida-Ardekani2
1Hematology and Oncology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Infectious Diseases Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Abstract
Background: Diagnosis of neonatal chylomicronemia, as a very rare condition, is very difficult and usually is diagnosed when acute pancreatitis sets in. Early diagnosis can prevent the complications such as acute pancreatitis and pancreatic necrosis which are associated with the condition.
Case Presentation: A 5.5 month- old female breastfed baby presented to us suffering from splenomegaly because of respiratory infection. Anemia and leukocytosis were seen in laboratory data. The result of bone marrow aspiration (BMA) performed to diagnosis was normal. Following the study, the patient had a high triglyceride, which improved with the treatment of symptoms and blood indices.
Conclusion: Our case reports a rare disorder that was initially admitted with suspicion of malignancy, organomegaly, anemia and leukocytosis. In the course of hospitalization, the diagnosis of malignancy was rejected after BMA, and chylomicronemia was diagnosed and the patient's leukocytosis and high uric acid were eliminated by treatment of the disease and the patient's symptoms were improved.
Keywords
Chylomicronemia; Hypertriglyceridemia; Hemolytic Anemia; Leukocytosis; Pancreatitis
References
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