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IJBC 2018, 10(1): 25-27 Back to browse issues page
Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report
Rim Ben Abdelaziz *, Fathi Mellouli, Mohamed Tahar Lamouchi, Sana Ben Messaoud, Monia Ben Khaled, Raoudha Doghri, Hela Boudabous, Amel Ben Chehida, Hatem Azzouz, Mohamed Bejaoui, Neji Tebib
Department of Pediatrics, La Rabta Hospital, Tunis Tunisia
Abstract:   (1920 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]   (928 Downloads)    
: case report | Subject: Pediatric Hematology & Oncology
Received: 2017/11/10 | Accepted: 2018/04/7 | Published: 2018/05/8
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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. IJBC. 2018; 10 (1) :25-27
URL: http://ijbc.ir/article-1-771-en.html

Volume 10, Issue 1 (March 2018 2018) Back to browse issues page
مجله ی خون و سرطان ایران Iranian Journal of Blood and Cancer
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