title: Congenital thrombotic thrombocytopenic purpura associated with moyamoya syndrome in a 3-year-old girl: a case report.
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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Puneet
authors.initials: P
authors.lastname: Jain
authors.forename: Sangeetha
authors.initials: S
authors.lastname: Yoganathan
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.forename: Jayashree
authors.initials: J
authors.lastname: Motwani
authors.forename: Atin
authors.initials: A
authors.lastname: Kumar
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
mesh_terms: D051722:ADAM Proteins / Q000235:genetics; D000071120:ADAMTS13 Protein; D015901:Angiography, Digital Subtraction; D001921:Brain / Q000473:pathology; D002339:Carotid Arteries / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009072:Moyamoya Disease / Q000097:blood / Q000150:complications* / Q000235:genetics; D011697:Purpura, Thrombotic Thrombocytopenic / Q000150:complications* / Q000151:congenital* / Q000235:genetics
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human