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


KARDAŞ F., PATIROĞLU T., ÜNAL E., Chiang S. C. C., Bryceson Y. T., KENDİRCİ M.

PEDIATRIC BLOOD & CANCER, vol.59, no.1, pp.191-193, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 1
  • Publication Date: 2012
  • Doi Number: 10.1002/pbc.23247
  • Journal Name: PEDIATRIC BLOOD & CANCER
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.191-193
  • Keywords: biotinidase deficiency, children, hemophagocytic lymphohistiocytosis, MULTIPLE CARBOXYLASE DEFICIENCY, LYMPHOHISTIOCYTOSIS, CHILDREN
  • Erciyes University Affiliated: Yes

Abstract

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.
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. Pediatr Blood Cancer 2012; 59: 191193. (C) 2011 Wiley Periodicals, Inc.