Antiphospholipid antibodies are a recognised prothrombotic risk factor associated with acute ischaemic infarction. Most autoimmune diseases are rare in infants, and in the neonatal period, autoimmunity is related to transplacental passage of maternal immunoglobulin G autoantibodies. Distinguishing between de novo and acquired autoimmunity has important therapeutic implications and is crucial for determining the prognosis. We present a case of a neonatal thrombotic stroke associated with de novo synthesis of antiphospholipid antibodies, a homozygous 1298C/C methylene-tetrahydrofolate reductase mutation and a double-homozygous plasminogen activator inhibitor 1 polymorphism (PAI-1 844A/A and 675 4G/4G), which may have increased the final thrombotic risk. Her mother was not positive for antiphospholipid antibodies. The authors highlight an unequivocal evidence of a de novo case of paediatric antiphospholipid antibody syndrome and emphasise the need for a thorough investigation in cases of neonatal stroke including molecular thrombophilia study.
Isaacs’ syndrome (IS), also known as acquired neuromyotonia, is a rare neuromuscular disease, manifested by involuntary continuous motor activity.1 Although there are reports in children,2,3 IS is more frequent in adults.1 The clinical presentation can include muscle cramps, fasciculations, myokymia, and pseudomyotonia. Electromyography (EMG) remains the gold standard for diagnosis.1,4 Dysfunction of peripheral nerve voltage-gated potassium channels (VGKC) appears to be related to the development of the disease.1,3,4,5 Paraneoplastic factors also play an important role in IS.5 Anticonvulsants are the first therapeutic option.1,4,5
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