De novo infantile primary antiphospholipid antibody syndrome

Abstract

Most autoimmune diseases are rare in infants. Early onset can represent an extreme phenotype arising from strong genetic predisposition relatively independent of environmental influence. Alternatively, neonatal autoimmunity can arise from transplacental passage of maternal pathogenic IgG autoantibodies. Distinguishing between these possible explanations is crucial for determining the prognosis in the specific patient, and has important implications for understanding pathogenesis. We report a case of neonatal thrombotic stroke associated with both cardiolipin and β2-glycoprotein I antibodies in neonatal serum but absent from cord blood and maternal serum. While the child also carried one prothrombotic allele of factor V (Leiden allele), which may have contributed to the risk of thromboembolic disease, the serological analysis represents unequivocal evidence of de novo neonatal primary phospholipid antibody syndrome.

Neonatal autoimmune diseases: A critical review

“…In particular, primary autoimmune disease in the neonate is almost unheard of, and there are no retrospective or prospective series of such patients described in the literature, although very rarely a case report will appear [114]. Most neonatal autoimmune disease is associated with a passive process involving transplacental transfer of maternal antibodies targeting fetal or neonatal tissue.…”

“…While most of the syndromes described above are believed to be related to transplacental transfer of maternal antibodies, several case reports of de novo primary antiophospholipid syndrome in a neonate or infant have been reported [114]. In one case presented in 2010, there were antibodies to both cardiolipin and b2-Glycoprotein1 detected in a neonate with a thrombotic stroke.…”

“…Neonatal polyarteritis nodosa is another autoimmune disease of unknown pathogenesis [114]. In this case, transplacental transfer of maternal antibodies has been suggested as a contributing factor.…”

Clinical, Laboratory, and Therapeutic Analyses of 21 Patients with Neonatal Thrombosis and Antiphospholipid Antibodies: A Literature Review

“…We observed that 43% of the patients in this study had seizures as a major clinical manifestation and that these were usually secondary to cerebral artery infarcts. Thus, epilepsy development was unusual [10, 11, 14–17, 20, 21]. Alshekaili et al [17] described the case of a 5-day-old newborn who had a reduction in spontaneous right limb movements.…”

Neonatal stroke associated with de novo antiphospholipid antibody and homozygous 1298C/C methylenetetrahydrofolate reductase mutation

“…aPL are a recognised prothrombotic risk factor associated with acute ischaemic infarction 3. Most autoimmune diseases are rare in infants, and in the neonatal period, autoimmunity is related to transplacental passage of maternal IgG autoantibodies 4. The rate of stroke is higher in the primary aPS patients, who are also younger at presentation 3.…”