Volume 10, Issue 1 ( March 2018 2018)                   Iranian Journal of Blood and Cancer 2018, 10(1): 25-27 | Back to browse issues page

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Ben Abdelaziz R, Mellouli F, Lamouchi M T, Ben Messaoud S, Ben Khaled M, Doghri R, et al . Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report. Iranian Journal of Blood and Cancer 2018; 10 (1) :25-27
URL: http://ijbc.ir/article-1-771-en.html
Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report
Rim Ben Abdelaziz *1 , Fathi Mellouli2 , Mohamed Tahar Lamouchi3 , Sana Ben Messaoud4 , Monia Ben Khaled2 , Raoudha Doghri5 , Hela Boudabous3 , Amel Ben Chehida3 , Hatem Azzouz3 , Mohamed Bejaoui2 , Neji Tebib3
1- Department of Pediatrics, La Rabta Hospital, Tunis Tunisia , rimelair@gmail.com
2- Pediatric Immuno-hematology Unit. Bone Marrow Transplantation Center Tunis,Tunisia
3- Department of Pediatrics, La Rabta Hospital, Tunis, Tunisia
4- Laboratory of Research LR12SPO2
5- Department of Pathology, Institut Salah Azaiez, Tunis, Tunisia
Abstract:   (4854 Views)
Pancytopenia in childhood can be caused by a variety of underlying diseases including hematological and non-hematological entities. Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism. No association between PKU and pancytopenia has ever been reported. We report the first case of PKU revealed by a pancytopenia at presentation. The patient was an infant girl born to healthy non-consanguineous parents with unremarkable family history. A hereditary metabolic disease workup was performed due to the presence of unexplained hematological features and a global developmental delay. Plasma aminoacid profile by thin-layer chromatography showed elevation of phenylalanine and urine organic acid chromatography showed accumulation of metabolites of phenylalanine; whereas, methylmalonic acid or other abnormal organic acids were not found. This is the first case of untreated PKU associated with pancytopenia who improved with low-phenylalanine diet.
Keywords: Phenylketonuria, Pancytopenia, Infant
Full-Text [PDF 398 kb]   (2889 Downloads)    
: Case report | Subject: Pediatric Hematology & Oncology
Received: 2017/11/10 | Accepted: 2018/04/7 | Published: 2018/05/8
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