Congenital Thrombotic Thrombocytopenic Purpura Associated With Moyamoya Syndrome in a 3-Year-Old Girl

Abstract

A 3-year-old girl who presented with anemia, thrombocytopenia, and recurrent strokes is described. The cerebral angiography revealed moyamoya vasculopathy. Her younger brother also had anemia and thrombocytopenia but no neurologic abnormalities. Both children had severe deficiency of ADAMTS13 (A Disintegrin And Metalloprotease with Thrombospondin like domain activity) confirming the diagnosis of congenital thrombotic thrombocytopenic purpura. The children responded well to regular fresh-frozen plasma infusions. This report expands the spectrum of hematologic diseases associated with moyamoya syndrome. Unexplained thrombocytopenia, especially in the presence of neurologic symptoms, should prompt an evaluation for ADAMTS13deficiency. The diagnosis has significant implications not only for therapy but also for genetic counseling.

Unusual presentation of acquired thrombotic thrombocytopenic purpura (TTP) versus catastrophic antiphospholipid syndrome in a patient with Moya‐Moya disease, case report, and literature review

“…It is further hypothesized that microangiopathic changes are followed by macroangiopathic changes leading to the ischemic manifestations of Moya‐Moya syndrome. 22 …”

“…It is further hypothesized that microangiopathic changes are followed by macroangiopathic changes leading to the ischemic manifestations of Moya-Moya syndrome. 22 Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of several autoantibodies targeting phospholipids or phospholipid-binding proteins. This syndrome is characterized by a procoagulant state, often leading to pregnancy loss and venous or arterial thrombosis.…”

“…10 Congenital TTP associated with MMD has been described, but the pathophysiology mechanism is unclear. 22,23 Some of the theories suggest that increases in the proinflammatory and angiogenic cytokines further stimulate the synthesis of growth factor-β and basic fibroblast growth factor, leading to angiogenesis and neovascularization. It is further hypothesized that microangiopathic changes are followed by macroangiopathic changes leading to the ischemic manifestations of Moya-Moya syndrome.…”

“…Congenital TTP associated with MMD has been described, but the pathophysiology mechanism is unclear 22,23 . Some of the theories suggest that increases in the proinflammatory and angiogenic cytokines further stimulate the synthesis of growth factor‐β and basic fibroblast growth factor, leading to angiogenesis and neovascularization.…”