Abstract
The term “catastrophic” antiphospholipid syndrome (CAPS) is used to define a subset of the antiphospholipid syndrome (APS) characterized by the clinical evidence of three or more organ involvement by thrombotic events in a short period of time and with laboratory confirmation of the presence of antiphospholipid antibodies. We describe a male infant first admitted at 17 days old for necrotizing enteritis complicated by cardiac and renal failure. Because of progressive renal function deterioration, a renal biopsy was performed at 8 months old, and histopathologic examination was compatible with renal venous thrombosis. Laboratory searching for vascular, prothrombotic, and metabolic disease was negative. Five months later, he developed two different episodes (20-day range) of ischemic stroke. Genetic test for thrombophilic conditions was positive for two different mutations, and repeatedly high titers of lupus anticoagulant, anticardiolipin, and anti-β2glicoprotein I antibodies were found. He was treated successfully with anticoagulants and showed a favorable clinical evolution. To the best of our knowledge, this is the youngest patient reported with probable CAPS. Although rare, APS/CAPS in the neonatal period or in the first year of life must be suspected in infants presenting with thrombotic phenomena. The present case illustrates the importance of an early diagnosis and treatment to enhance possibilities of survival.
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References
Asherson R (1998) Catastrophic antiphospholipid syndrome. Clinical and laboratory features of 50 patients. Medicine (Balt) 77:195–207
Asherson R (2005) The catastrophic antiphospholipid (Asherson’s) syndrome in 2004—a review. Autoimmun Rev 4:48–54
Asherson R, Cervera R (2003) The antiphospholipid syndrome: multiple faces beyond the classical presentation. Autoimmun Rev 2:140–151
Asherson R, Cervera R, Groot P, Erkan D, Boffa M, Piette J et al (2003) Catastrophic antiphospholipid syndrome: international consensus statement on classification criteria and treatment guidelines. Lupus 12:530–534
Asherson RA, Khamashta MA, Ordi-Ros J, Derksen RH, Machin SJ, Barquinero J, Outt HH, Harris EN, Vilardell-Torres M, Hughes GR (1989) The primary antiphospholipid syndrome: major clinical and serological features. Medicine (Balt) 68:366–374
Avcin T, Cimaz R, Meroni PL (2002) Recent advances in antiphospholipid antibodies and antiphospholipid syndromes in pediatric populations. Lupus 11:4–10
Campos L, Kiss M, D’Amico E, Silva C (2003) Antiphospholipid antibodies and antiphospholipid syndrome in 57 children and adolescents with systemic lupus erythematosus. Lupus 12:820–826
Erkan D, Asherson RA, Espinosa G, Cervera R, Font J, Piette JC, Lockshin MD (2003) Long-term outcome of catastrophic antiphospholipid syndrome survivors. Ann Rheum Dis 62:530–533
Espinosa G, Cervera R, Font J, Shoenfeld Y (2003) Antiphospholipid syndrome: pathogenic mechanisms. Autoimmun Rev 2:86–93
Gattorno M, Falcini F, Ravelli A, Zulian F, Buoncompagni A, Martini G, Resti M, Picco P, Martini A (2003) Outcome of primary antiphospholipid syndrome in childhood. Lupus 12:449–453
Hanly J (2003) Antiphospholipid syndrome: an overview. CMAJ 168:1675–1682
Harris E, Pierangeli S (2004) Primary, secondary, catastrophic antiphospholipid syndrome: is there a difference? Thromb Res 114:357–361
Iglesias-Jiménez E, Camacho-Lovillo M, Falcón-Neyra D, Lirola-Cruz J, Neth O (2010) Infant with probable catastrophic antiphospholipid syndrome successfully managed with rituximab. Pediatrics 125:1523–1528
Kim H, Hwang H, Chae J, Kim K, Hwang Y, Lim B (2010) Ischemic stroke in a 7-month old infant with antiphospholipid antibody and homozygous c677t MTHFR polymorphism. Journal Child Neurol 25:1047–1050
Krause I, Blank M, Fraser A, Lorber M, Stojanovich L, Rovensky J, Shoenfeld Y (2005) The association of thrombocytopenia with systemic manifestations in the antiphospholipid syndrome. Immunobiology 210:749–754
Miyakis S, Lockshin M, Atsumi T, Branch D, Brey R, Cervera R, Derksen RH, de Groot PG, Koike T, Meroni PL, Reber G, Shoenfeld Y, Tincani A, Vlachoyiannopoulos PG, Krilis SA (2006) International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 4:295–306
Navarrete N, Macías P, Jaén F, Hidalgo C, Cáliz R, Jiménez-Alonso R (2005) Two cases of catastrophic antiphospholipid syndrome. Lupus 14:907–909
Olguin-Ortega L, Jara LJ, Becerra M, Ariza R, Espinoza L, Wilson W, Barile-Fabris L (2003) Neurological involvement as a poor prognostic factor in catastrophic antiphospholipid syndrome: autopsy findings in 12 cases. Lupus 12:93–98
Rolim S, Castro M, Santiago M (2006) Neonatal antiphospholipid syndrome. Lupus 15:301–303
Soltész P, Veres K, Lakos G, Kiss E, Muszbek L, Szegedi G (2003) Evaluation of clinical and laboratory features of antiphospholipid syndrome: a retrospective study of 637 patients. Lupus 12:302–307
Springer S, Annibale D (2011) Title of subordinate document. In: Pediatric necrotizing enterocolitis. Medscape reference. Available via DIALOG. http://wwwhttp://emedicine.medscape.com/article/977956-overview of subordinate document. Accessed 21 July 2011
Uthman I, Khamashta M (2006) Antiphospholipid syndrome and the kidneys. Semin Arthritis Rheum 35:360–367
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Cabral, M., Abadesso, C., Conde, M. et al. Catastrophic antiphospholipid syndrome: first signs in the neonatal period. Eur J Pediatr 170, 1577–1583 (2011). https://doi.org/10.1007/s00431-011-1548-9
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DOI: https://doi.org/10.1007/s00431-011-1548-9