Rim Ben Abdelaziz *
1,
Fathi Mellouli2
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,
Mohamed Tahar Lamouchi3
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,
Sana Ben Messaoud4
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,
Monia Ben Khaled2
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,
Raoudha Doghri5
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,
Hela Boudabous3
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,
Amel Ben Chehida3
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,
Hatem Azzouz3
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,
Mohamed Bejaoui2
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,
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: (4222 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.
:
Case report |
Subject:
Pediatric Hematology & Oncology Received: 2017/11/10 | Accepted: 2018/04/7 | Published: 2018/05/8