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Pediatr Blood Cancer. 2012 Jul 15;59(1):191-3. doi: 10.1002/pbc.23247. Epub 2011 Aug 16.

Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.

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  • 1Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.


Hemophagocytic syndromes such as hemophagocytic lymphohistiocytosis (HLH) are life-threatening hyperinflammatory conditions caused by inherited or acquired immune disorders. Awareness of the clinical symptoms and diagnostic criteria for hemophagocytic syndromes is crucial to start timely life-saving therapy. We present a case of a 4-month-old boy presenting with HLH. However, the patient was subsequently diagnosed with biotinidase deficiency and was successfully treated with biotin-replacement therapy, upon which the hemophagocytic syndrome ceased. Subsequent laboratory evaluations revealed normal lymphocyte cytotoxicity and no mutations in genes associated with familial HLH were found. Biotinidase deficiency should be considered as a differential diagnosis of patients fulfilling HLH criteria.

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