Article Text

AB1024 A Rare Case of Neonatal Antiphospholipid Syndrome
  1. T. Giani1,
  2. A. Mauro2,
  3. I. Pagnini1,
  4. G. Simonini1,
  5. F. Bertini1,
  6. A. Marino1,
  7. R. Cimaz1
  1. 1Pediatric, Auo Meyer, Florence
  2. 2Pediatric, Seconda Università degli Studi di Napoli, Napoli, Italy


Background Neonatal Antiphospholipid antibody syndrome (APS) is a rare clinical entity linked to the transplacental transfer of antiphospholipid antibodies (aPL). Additional risk factors such as asphyxia, sepsis, arterial or venous catheter, congenital thrombophylia are frequently associated, precipitating the thrombophylic action of aPL.

Objectives We describe a case of neonatal thrombotic stroke associated with IgG (but not IgM) aPL.

Methods A 6 month old Caucasian child presented to our clinic with a history of seizures, delayed psychomotor development, right hemiparesis and right homonymous hemianopsia. The family history was uncontributive. A placental abruption on the 3rd month of gestation and premature contractions in the second trimester were reported. The child was born at 38 weeks of gestational age with a natural childbirth, and a fetal APGAR index of 9/9. However the mother noticed a left facial hypotrophy since the first days of life, and described a progressively reduced use of his right arm. At 3 months of age the child developed a divergent strabismus, and recurrent partial seizures.

Results Cerebral MRI at 6 months of age exhibited changes consistent with ischemic cerebral lesions in the left middle cerebral artery territory with a MR angiography showing a thinning caliber of this vessel. Heart ultrasound was unremarkable. Routine laboratory test including infectious serologies were normal or negative. Prothrombotic risk factors ie PT, APTT, fibrinogen, protein S, protein C, Lupus Anticoagulant, IgM Anticardiolipin antibodies and IgM β2 GP1 were negative or in normal range. IgG anticardiolipin were elevated at 17 U/ml (normal <10), and IgG β2 GP1 were also positive at 59 U/ml (normal <10). Molecular genetic testing demonstrated heterozygosity for G1691A factor V Leiden mutation. Subsequently, at the age of 9 months IgG anticardiolipin and β2 GP1 resulted negative.

Testing for aPL was performed 6 months after the delivery in the mother and was negative.

The child currently presents a refractory epilepsy and an abnormal neurological status with trunk hypotonia and global developmental delay.

Conclusions aPL-related thrombosis is exceedingly rare In the neonatal period. The consequences depend on the type of organ and vessel involved, the vessel size and on the rapid or slow course of the thrombotic process. The most frequently described type of thrombotic events is deep venous thrombosis in the lower extremities, pulmonary embolism, and thrombotic complications in the central nervous system. aPL alone may not be sufficient to cause the ischemic damage, and others prothrombotic conditions are probably implicated. In our patient the heterozygosity for factor V Leiden mutation, placental abruption at the III month of pregnancy and premature contractions may have contributed to the thromboembolic disease in presence of maternal IgG aPL.

Disclosure of Interest None declared

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