title: Congenital thrombotic thrombocytopenic purpura: Upshaw-Schulman syndrome: a cause of neonatal death and review of literature.
abstract: Thrombotic thrombocytopenic purpura (TTP) is a rare disorder in children characterized by microangiopathic hemolytic anemia (MAHA) and thrombocytopenia. The classic Moschcowitz Pentads of TTP include hemolytic anemia, with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decrease renal function and fever. We report a newborn who was diagnosed with congenital TTP. The newborn was admitted at age of 40 h, in our hospital, in view of respiratory distress with impending respiratory failure and red colored urine. On examination, the newborn was febrile, tachypneic, had deep icterus, pallor and no hepatosplenomegaly. Family history was significant with one unexplained neonatal death at age of 24 with symptoms of red colored urine. Examination of peripheral smear was diagnostic with the presence of fragmented RBCS, giant but fewer platelets consistent with a diagnosis of MAHA. The diagnosis of TTP was confirmed with low ADAMTS activity and gene analysis showed c 2203 G > T-p.Glu735X (domain TSP1-2) mutation in exon 18 of ADAMTS 13 gene. The newborn had rapid deterioration, with respiratory distress and refractory shock leading to death. Post-mortem bone marrow done showed marrow hyperplasia.
authors.affiliation: a Department of Pediatrics , Pt B.D Sharma PGIMS , Rohtak , Haryana , India .
authors.forename: Deepak
authors.initials: D
authors.lastname: Sharma
authors.affiliation: b Department of Pathology , N.K.P Salve Medical College , Nagpur , Maharashtra , India .
authors.forename: Sweta
authors.initials: S
authors.lastname: Shastri
authors.affiliation: c Department of Pediatrics , Government Medical College , Jammu , India , and.
authors.forename: Aakash
authors.initials: A
authors.lastname: Pandita
authors.affiliation: d R.N.T Medical College , Udaipur , Rajasthan , India.
authors.forename: Pradeep
authors.initials: P
authors.lastname: Sharma
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011697:Purpura, Thrombotic Thrombocytopenic / Q000151:congenital* / Q000175:diagnosis
keywords: ADAMTS13; Upshaw–Schulman syndrome; Von-Willbrand Factor; microangiopathic hemolytic anemia; thrombotic thrombocytopenic purpura