The specific characteristics of DIC syndrome vary with different clinical settings in the newborn.

Abstract Two hundred fourteen newborns with serious perinatal pathology (posthypoxic syndrome, sepsis, surgical intervention, etc.) were examined in progress, according to 27 parameters including coagulative, trombocitic, anti-coagulative and fibrinolitic parts of hemostasis system. It was proved, that neonatal disseminated intravascular coagulation (DIC) syndrome had different hemostasiological patterns, which were connected with the genesis: sepsis, surgical intervention or posthypoxic syndrome. Precise periods of DIC syndrome are not always presented in newborns. DIC syndrome with neonatal sepsis has two different patterns (overcompensated and decompensated). The manifestation of trombo-hemorrhagic disorders and their characteristics depend on the genesis of DIC syndrome (e.g. an infection process and hyperbilirubinemia can provide the appearance of hemorrhagic syndrome).

Clinical use of fresh-frozen plasma and cryoprecipitate in neonatal intensive care unit.

Evidence-based indications for the use of plasma products in neonatal medicine are limited to few conditions. In the setting of inherited disorders of hemostasis, fresh frozen plasma (FFP) and cryoprecipitate should be used as replacement therapy only if the specific factor concentrate is not available. FFP is indicated to treat disseminated intravascular coagulation (DIC), liver failure, vitamin K-dependent bleeding and to reconstitute whole blood for exchange transfusion. Despite the lack of evidence, the use of cryoprecipitate to treat neonates with acquired hypofibrinogenemia during DIC or liver failure is now considered standard therapy.

Situación de salud oral de niños uruguayos portadores de coagulopatías hereditarias: Centro Hospitalario Pereira Rossell, Montevideo, Uruguay / Oral health in uruguayan children with inherited bleeding disorders: Pereira Rossell Hospital, Montevideo, Uruguay

Propósito: describir la situación de salud oral de los niños portadores de coagulopatías atendidos en el Servicio de Hemoterapia del Centro Hospitalario Pereira Rossell de Montevideo,Uruguay, entre febrero del 2008 y diciembre del 2009, y compararla con un grupo sin coagulopatías. Método: se realizó un estudio retrospectivo de casos y controles. El grupo deestudio estuvo conformado por 39 pacientes (edad: 8,62 ±4,20 años) y el grupo de control, por 78 (edad: 6,5 ± 2,88 años). El análisis de los hallazgos fue descriptivo. Resultados: enel grupo de niños con coagulopatías se encontró un índice ceo-d 2,85 ± 2,41 y un CPO-d 1,96 ±2,59, ambos ligeramente superiores al grupo control. Según la clasificación de lacoagulopatía se registró: hemofilia A en 17 pacientes, hemofilia B en 7, deficiencia de factor XII en un paciente y enfermedad de von Willebrand en 14. La adherencia al tratamientofue calificada como buena en 15 pacientes, mientras que fue mala en los 24 pacientes restantes. Conclusión: este es un primer reporte de salud oral en niños con coagulopatías en Uruguay. Es necesario hacer un seguimiento y aumentar la cobertura de este programa para mantener la salud oral de estos pacientes...

Aim: Describe the oral health status of children with inherited bleeding disorders who attended the Pereira Rossell Hospital in Montevideo Uruguay for dental care, between February 2008 and December 2009, and compare it with children without bleeding disorders. Methods:A retrospective case-control study was carried out. The study group consisted of 39 patients (age: 8.62 ± 4.20 years), while the control group had 78 patients (age 6.5 ± 2.88). Descriptive analysis was done to the data. Results: The study group had a dmf-s index 2.85± 2.41 and a DMF-s 1.96 ± 2.59, being slightly higher than in the control group. The bleeding disorder classification was: Hemophilia A, 17 patients; Hemophilia B, 7 patients; factor XII deficit, 1 patient; and Von Willebrand disease, 14 patients. Commitment to the treatmentwas determined as good in 15 patients and bad in 24 patients. Conclusion: This is the first oral health report on children with bleeding disorders from this program in Uruguay. It isnecessary to follow up the patients and increase the program coverage in order to maintain the oral health of this kind of patients...

Síndrome de Kasabach-Merritt. Presentación de caso / Kasabach-Merritt syndrome. Case report

El Síndrome de Kasabach-Merritt fue descrito en 1940 como la asociación de grandes hemangiomas cavernosos con trombocitopenia y coagulación intravascular.Se realizó el estudio clínico de una paciente portadora del Síndrome de Kasabach-Merritt en el hospital de Uspantán, un distrito rural de la República de Guatemala y a propósito del caso se realizó una revisión de la literatura existente acerca de la entidad. Se analizó su historia clínica y todos los complementarios realizados

Estudio comparativo de la adhesión terapéutica en pacientes VIH+ de larga evolución con y sin coagulopatías congénitas" / Comparative study of compliance in long survival HIV- patients with and without congenital coagulopathy

La introducción de las nuevas terapias antirretrovirales (HAART) ha ocasionado un importante descenso de la morbi-mortalidad asociada a la infección por VIH. En ellas, asegurar una buena adhesión terapéutica constituye una cuestión prioritaria, no sólo para asegurar un adecuado control medicamentoso de los pacientes sino también para evitar la aparición de cepas víricas resistentes debida a los tratamientos administrados en dosis subóptimas.El objetivo del presente trabajo es averiguar si el hecho de que las personas infectadas con el VIH tengan experiencia previa con una enfermedad crónica congénita que exija un cumplimiento riguroso de normas preventivas y tratamiento compensador terapéutico, puede suponer un factor facilitador importante en la consecución de una buena adhesión terapéutica a las terapias antirretrovirales (HAART).Para alcanzar este objetivo se ha comparado la adhesión terapéutica a las terapias antirretrovirales en dos grupos de pacientes infectados con el VIH del mismo hospital: a) pacientes con coagulopatía congénita (hemofílicos), con una larga historia de apoyo psicosocial; y b) pacientes sin coagulopatía congénita.Los resultados que asimismo contemplan la posible influencia de variables intermedias moduladoras, tales como las creencias sobre el tratamiento, la relación entre los pacientes y los profesionales sanitarios y, la percepción de efectos secundarios atribuidos a los medicamentos - muestran que la adhesión a las terapias antirretrovirales (HAART) es superior en los pacientes VIH hemofílicos que en los no hemofílicos. (AU)

Neonatal lupus erythematosus with microvascular hemolysis.

A female, term newborn born to a mother with a history of idiopathic thrombocytopenic purpura and antinuclear antibodies, single-stranded A antibody, and IgM anticardiolipin antibodies presented with immune thrombocytopenia, disseminated intravascular coagulation (DIC), microangiopathic hemolytic anemia, and a characteristic lupus rash in the periorbital areas. She responded to combined treatment with dexamethasone and intravenous immunoglobulin (IVIG). At age 9 months, she was readmitted with severe thrombocytopenia, DIC, and microangiopathic hemolytic anemia. She again responded to IVIG. This suggests that microangiopathic hemolysis can be a presenting symptom in neonatal lupus erythematosus and that reoccurrence of the microangiopathic hemolysis may occur even after the disappearance of lupus antibodies.

Liver transplantation in a case of hypoproteinemia and coagulopathy.

A female infant with hypoproteinemia and coagulopathy associated with hypertyrosinemia was successfully treated with living-related liver transplantation (LRLT). On the 12th day of life plasma amino acid analysis revealed a marked elevation of tyrosine, so the patient was fed on a low-tyrosine and low-phenylalanine diet. However, hepatosplenomegaly, hypotonia, alopecia, eczema and psychomotor delay did not improve and recurrent episodes of disseminated intravascular coagulation (DIC) caused her condition to deteriorate. Liver biopsy on the 230th day revealed marked fatty change accompanied by mild to moderate cholestasis. Therefore, LRLT from her father was performed on the 286th day resulting in improvement of all the aforementioned signs and symptoms. Despite a thorough examination, no diagnosis of a known disorder could be established. However, her elder brother had also been born with severe hypoproteinemia and coagulopathy, and died of DIC on the second day of life. Thus, the disorder is designated as a new entity, namely 'congenital hypoproteinemia and coagulopathy associated with hypertyrosinemia'.

Successful management with interferon alpha-2a after prednisone therapy failure in an infant with a giant cavernous hemangioma.

A giant cavernous hemangioma of the left arm with severe thrombocytopenia and consumptive coagulopathy was observed in a neonate. Initial treatment with prednisone, platelet transfusions, and clotting replacement failed to control the bleedings. The child was then treated with daily subcutaneous infusions of interferon alpha-2a. Coagulopathy rapidly improved and transfusions were drastically reduced. The hemangioma regressed progressively and disappeared after 4 months of treatment.

Síndrome de Kasabach-Merritt: actualización / Kasabach-Merritt's syndrome: actualization

El síndrome de Kasabach-Merritt consiste en un cuadro caracterizado por trombocitopenia, anemia hemolítica microangiopática y coagulopatía por consumo asociado a un hemangioma que crece rápidamente. La mortalidad potencial es alta, pero esto se modifica cuando el hemangioma comienza a involucionar, sea por la terapéutica instaurada o en forma espontánea. Urgencia dermatológica

Síndrome de Kasabach-Merritt: actualización / Kasabach-Merritts syndrome: actualization

El síndrome de Kasabach-Merritt consiste en un cuadro caracterizado por trombocitopenia, anemia hemolítica microangiopática y coagulopatía por consumo asociado a un hemangioma que crece rápidamente. La mortalidad potencial es alta, pero esto se modifica cuando el hemangioma comienza a involucionar, sea por la terapéutica instaurada o en forma espontánea. Urgencia dermatológica (AU)

Multifocal congenital hemangiopericytomas associated with Kasabach-Merritt syndrome.

A newborn male with multifocal congenital hemangiopericytomas complicated by Kasabach-Merritt syndrome was treated by excision of a large hemangiopericytoma in the right mandibular area. After excision of this lesion, the associated consumptive coagulopathy abated. Spontaneous regression of other subcutaneous tumours over the thighs and left flank was noted by age 6 months; this illustrates the benign course of most congenital hemangiopericytomas. Surgical excision of congenital hemangiopericytoma is indicated when there is a coexisting consumptive coagulopathy or for the definitive control of large lesions. For smaller lesions and in the absence of Kasabach-Merritt syndrome, the benign nature and predilection for spontaneous regression of congenital hemangiopericytomas render observation as the preferred strategy.

Replacement therapy with a monoclonal antibody purified protein C concentrate in newborns with severe congenital protein C deficiency.

Protein C replacement therapy with a monoclonal antibody purified, virus inactivated protein C concentrate was carried out in nine infants (three male, six female) with severe congenital protein C deficiency and life-threatening purpura fulminans and/or thrombosis associated with disseminated intravascular coagulation (DIC). Eight infants were homozygous for protein C deficiency; one was a compound heterozygote. The treatment period varied from 22 days to three years. The half-life of protein C was found to be as short as two to three hours during activation of the coagulation system, increasing to approximately ten hours after stabilization. During the acute phase, protein C levels of 0.10 to 0.25 IU/mL were associated with elevated markers of coagulation activation indicating DIC, while protein C levels greater than 0.25 were associated with normalization of coagulation markers. No product-related side effects were reported. Episodes of bleeding or purpura recurred in all patients who were switched to oral anticoagulant therapy, necessitating reinstatement of protein C replacement therapy, either as needed to control symptoms, or on a long-term prophylactic schedule, alone or in addition to oral anticoagulation. Home treatment with protein C concentrate allowed a near-normal life-style for patients who otherwise would be hospitalized for long periods of time.

Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or Arg286-->His mutations.

Separate single nucleotide mutations have been identified in two unrelated homozygous type I protein C deficient individuals suffering from thrombophilia. Each mutation, initially established by direct DNA sequencing of polymerase chain reaction amplification products, results in an amino acid substitution. The first mutation (PCClamart) results in an Ala136 to Pro substitution in the protein's second epidermal growth factor-like domain. The second mutation (PCMünchen) results in an Arg286 to His substitution in the serine protease domain. Comparison of the location of these two mutations and the relative conservation of the two regions in homologous vitamin K-dependent plasma proteins is consistent with the difference in severity of protein C deficiency and disease in the two individuals. Both mutations result in the abolition of a naturally occurring restriction endonuclease site, thereby allowing independent confirmation of the mutations and rapid and unambiguous genetic analysis of protein C deficiency in family members. In both families, the genetic analysis has proven useful in cases where an assignment of the protein C status based upon clinical laboratory measurements was either ambiguous or incorrect.

[Disseminated intravascular coagulation caused by prenatal hemorrhage into a congenital mesoblastic nephroma. Case report]. / Verbrauchskoagulopathie durch pränatale Einblutungen in ein kongenitales mesoblastisches Nephrom. Fallbericht.

We report the case of a premature female newborn of the 35th gestational week with a congenital mesoblastic nephroma. The tumor was prenatally diagnosed in the 32nd week of gestation. By close sonographic controls, rapid enlargement was verified towards the end of the 35th week of gestation. This was probably caused by hemorrhage into the tumor. Anemia and postnatal disseminated intravascular coagulation followed. Cesarean section was done, because the anemia was suspected by Doppler sonographic evaluation. Disseminated intravascular coagulation could not be sufficiently controlled by conservative means but only by surgical removal of the tumor. The tumor turned out to be a congenital mesoblastic nephroma by histologic evaluation. Despite postoperative anuria and catecholamine dependency, our patient eventually showed a very favourable outcome. Diagnosis, clinical behavior and therapy of this tumor with a generally good prognosis are described and discussed.

Kasabach-Merritt syndrome in two neonates.

Two neonates with a giant hemangioma associated with thrombocytopenia (Kasabach-Marritt syndrome) have been managed at Kure National Hospital. The first case was initially difficult to distinguish from overwhelming infection or other tumors but improved after radiotherapy. The second case was resistant to radiation and steroid therapy. Magnetic resonance imaging determined a tumor extending into the surrounding soft tissues better than did enhanced computed tomography. Subtotal excision of the tumor and various drugs were effective only transiently and 51Cr-labeled platelets sequestrated into the residual hemangioma. Severe thrombocytopenia persisted for approximately 15 months requiring extra care for head and body contusions, but finally improved by treatment with platelet-active drugs such as acetylsalicylic acid, dipyridamole, and pentoxifylline.

[Generalized herpesvirus infection with severe consumption coagulopathy in a newborn infant]. / Generalisierte Herpesvirusinfektion mit schwerer Verbrauchskoagulopathie bei einem Neugeborenen.

In a mature newborn the symptoms of a disseminated HSV infection were evident at the 6th day of life. Later on bleeding occurred as a result of severe consumption coagulopathy. During treatment with Acyclovir the bleeding situation was controlled by fibrinogen replacement. The infant survived and is under normal psychologic and motorical development now. The treatment result is taken for the good virostatic efficacy of Acyclovir. It inhibits the DNA polymerases and therefore the DNA replication within the herpes viruses selectively. This high degree of selectivity is caused by its selective penetration into the infected cells, its faster transformation by the viral thymidine kinase as well as by its stronger affinity for HSV coded polymerase in detail. The diagnosis had been confirmed by detection of herpes viruses within the blister fluid and cerebrospinal fluid as well as by serological findings.