Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant

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Koker S. A., Yesilbas O., KÖKER A., Sevketoglu E.

ARCHIVOS ARGENTINOS DE PEDIATRIA, cilt.118, sa.2, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 118 Sayı: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5546/aap.2020.eng.e174
  • Dergi Adı: ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Anahtar Kelimeler: inborn errors metabolism, hemophagocytic lymphohistiocytosis, propionic academia
  • Akdeniz Üniversitesi Adresli: Hayır

Özet

Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis have previously been reported. It is unclear how the metabolites trigger HLH in metabolic diseases. A 2-month-old infant with lethargy, pallor, poor feeding, hepatosplenomegaly, fever and pancytopenia, was diagnosed with HLH and the HLH-2004 treatment protocol was initiated. Analysis for primary HLH gene mutations and metabolic screening tests were performed together; primary HLH gene mutations were negative, but hyperammonemia and elevated methyl citrate were detected. Propionic acidemia was diagnosed with tandem mass spectrometry in neonatal dried blood spot. We report this case of HLH secondary to propionic acidemia. Both metabolic disorder screening tests and gene mutation analysis may be performed simultaneously especially for early diagnosis in infants presenting with HLH.