ABSTRACT
We report a case of stroke in a child with acquired protein C deficiency receiving valproic acid (VPA). To investigate the possible association of VPA with protein C deficiency, protein C levels were measured in 20 children receiving VPA monotherapy and 20 children receiving other anticonvulsants. Protein C levels were reduced in up to 45% of the VPA-treated subjects.
Subject(s)
Anticonvulsants/adverse effects , Protein C Deficiency/chemically induced , Protein C Deficiency/complications , Protein C/metabolism , Stroke/etiology , Valproic Acid/adverse effects , Anticonvulsants/therapeutic use , Antithrombins/metabolism , Child , Child, Preschool , Female , Fibrinogen/metabolism , Humans , Infant , Platelet Count , Protein S/metabolism , Seizures/drug therapy , Valproic Acid/therapeutic useSubject(s)
Factor IX/therapeutic use , Factor VIII/therapeutic use , Hemarthrosis/prevention & control , Hemophilia A/complications , Hemophilia B/complications , Child , Cost-Benefit Analysis , Costs and Cost Analysis , Drug Administration Schedule , Factor IX/administration & dosage , Factor VIII/administration & dosage , Hemarthrosis/economics , Hemophilia A/economics , Hemophilia B/economics , Humans , Infusions, Intravenous , MaleABSTRACT
A family is described with three-generation transmission of factor V Leiden (a thrombophilic mutation that causes resistance to activated protein C). Legg-Perthes disease developed in three siblings in this family. The male proband and his sister were heterozygous for the mutation and had unilateral hip disease at age 2 years. The brother, who had bilateral hip disease, was homozygous. This novel family provides compelling evidence for the pathoetiologic role of familial thrombophilia in Legg-Perthes disease.
Subject(s)
Factor V/genetics , Legg-Calve-Perthes Disease/genetics , Adult , Child , Child, Preschool , Female , Heterozygote , Homozygote , Humans , Legg-Calve-Perthes Disease/diagnostic imaging , Male , Middle Aged , Mutation , Pedigree , Protein C/genetics , RadiographyABSTRACT
Two infants with Down syndrome had transient myeloproliferative disorder (TMD) during the neonatal period and subsequently acute nonlymphoblastic leukemia (ANLL). Histochemically, the blast cells in TMD were indistinguishable from those in ANLL. Only the constitutional chromosome (trisomy 21) was found in TMD, whereas new cytogenetic abnormalities emerged in ANLL. A mixed growth pattern in stem cell cultures during TMD suggested the existence of an abnormal clone that might be responsible for the evolution into ANLL at a later date. Serial cytogenetic studies and culture studies of peripheral blood cells may help to understand the pathophysiology and risk of ANLL in patients with TMD.