neonatal-onset familial hemophagocytic lymphohistiocytosis

Synopsis

 hemophagocytic lymphohistiocytosis (HLH)
 neonatal-onse
 UNC13D or PERF1 (perforin) mutation (1122 G>A)
 high serum ferritin levels mimicking neonatal hemochromatosis

Differential diagnosis

 Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis. (8301429)

See also

 fetal-onset familial lymphohistiocytosis (fetal-onset FLH)

Open access references

 Liver failure with marked hyperferritinemia: ’ironing out’ the diagnosis. Natsheh SE, Roberts EA, Ngan B, Chait P, Ng VL. Can J Gastroenterol. 2001 Aug;15(8):537-40. PMID: 11544539 (Free)

References

 Hemophagocytic lymphohistiocytosis in the premature neonate. Woods CW, Bradshaw WT, Woods AG. Adv Neonatal Care. 2009 Dec;9(6):265-73. Review. PMID: 20010142

 Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis. Vermeulen MJ, de Haas V, Mulder MF, Flohil C, Fetter WP, van de Kamp JM. Eur J Med Genet. 2009 Nov-Dec;52(6):417-20. PMID: 19595804

 Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children. Gurgey A, Unal S, Okur H, Orhan D, Yurdakok M. J Pediatr Hematol Oncol. 2008 Dec;30(12):871-6. PMID: 19131769

 Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reports. Nakao T, Shimizu T, Fukushima T, Saito M, Okamoto M, Sugiura M, Yamamoto K, Ueda I, Imashuku S, Kobayashi C, Koike K, Tsuchida M, Sumazaki R, Matsui A. Pediatr Hematol Oncol. 2008 Apr-May;25(3):171-80. PMID: 18432499

 Distinguishing hemophagocytic lymphohistiocytosis from hemochromatosis in patients with hyperferritinemia. Kapoor S. Pediatr Blood Cancer. 2008 Jun;50(6):1287; author reply 1287-8. PMID: 18300323

 Fulminant neonatal liver failure in siblings: probable congenital hemophagocytic lymphohistiocytosis. Stapp J, Wilkerson S, Stewart D, Coventry S, Mo JQ, Bove KE. Pediatr Dev Pathol. 2006;9:239-244.

 Hemophagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis. Malloy CA, Polinski C, Alkan S, Manera R, Challapalli M. J Perinatol. 2004 Jul;24(7):458-60. PMID: 15224121

 Levendoglu-Tugal O, Ozkaynak MF, LaGamma E, Sherbany A, Sandoval C, Jayabose S. Hemophagocytic lymphohistiocytosis presenting with thrombocytopenia in the newborn. J Pediatr Hematol Oncol. 2002;24:405-409.

 Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis. Parizhskaya M, Reyes J, Jaffe R. Pediatr Dev Pathol. 1999 Jul-Aug;2(4):360-6. PMID: 10347280

 Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis. Shneider BL, Setchell KD, Whitington PF, Neilson KA, Suchy FJ. J Pediatr. 1994 Feb;124(2):234-8. PMID: 8301429