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neonatal-onset familial hemophagocytic lymphohistiocytosis
Tuesday 17 May 2011
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