Acta Pediátrica Española

ISSN 2014-2986

Información adicional

  • Num_publicacion 73(7)
  • Resumen_ingles
    Introduction: Jacobsen syndrome is due to partial deletion of the long arm of chromosome11. A de novo deletion occurs in 85% of cases. Most common signs include pre- and postnatal growth retardation, psychomotor delay, malformations and characteristic facial dysmorphism. Abnormal platelet function thrombocytopenia or pancytopenia are frequent from birth. Approximately, 20% of patients die during the first 2 years of life.
    Case report: Newborn female born at term, without any family history of congenital anomalies, presenting with peculiar phenotype (small and low-set ears, broad nasal bridge, hypertelorism, downslanting palpebral fissures, micro-retrognathia), carp-like mouth, cleft palate, petechial-like lesion in thorax and right thigh, associated to imperforate hymen. Karyotype 46,XX,del(11)(q14.1q23.3)dn, being normal for both her parents. Since the age of 2 weeks she had a marked thrombocytosis, with no acquisition of developmental milestones. The patient died at 3 months after a spontaneous hemorrhagic cerebral-vascular accident.
    Conclusions: Clinical manifestations of the syndrome are related to the size of the deletion. Generally, the breakpoint is located at 11q23.3. Among the hematological alterations the most frequent one is thrombopenia, unlike our patient, who had thrombocytosis. This seems to be due to the loss of FLI-1, among other genes with a key role in megakaryopoiesis, when the deletion affects the band 11q24.
     
  • Palabras_clave_ingles Deletion 11q23.3 Jacobsen syndrome Malformations Haemorrhage Thrombocytopenia
  • Todos_autores S. Ortiz Madinaveitia1, R. Romero Gil1, A. Peña Busto1, M. Serrano Madrid1, E. Bermejo-Sánchez2,3, M.L. Martínez-Fernández2
  • autores listados S. Ortiz Madinaveitia, R. Romero Gil, A. Peña Busto, M. Serrano Madrid, E. Bermejo-Sánchez, M.L. Martínez-Fernández
  • Correspondecia
    S. Ortiz Madinaveitia. Servicio de Pediatría. Hospital «Santa Bárbara». P.º Santa Bárbara, s/n. 42005 Soria.
    Correo electrónico: saturortizm@hotmail.com
  • Titulo_ingles Jacobsen syndrome (partial 11q deletion) associated to thrombocytosis: report of a case and literature review
  • Centros_trabajo 1Servicio de Pediatría. Hospital «Santa Bárbara». Soria. 2ECEMC. CIAC. Instituto de Salud «Carlos III». Madrid. 3Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud «Carlos III». Ministerio de Economía y Competitividad. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). U724. Ministerio de Economía y Competitividad. Madrid
  • Publicado en Acta Pediatr Esp. 2015; 73(7): e199-e207
  • copyright ©2015 Ediciones Mayo, S.A.
  • Fecha recepcion 13/11/14
  • Fecha aceptacion 4/03/15
  • Tipo de Artículo Clínico (Microdatos) Case Reports
Publicado en Notas clínicas

Información adicional

  • Num_publicacion 68(10)
  • Resumen_ingles

    Thrombocytopenia (platelet count lower than 150 3 109/L) is one of the most frequent hematological issues in the newborn, especially in the premature infant. The aim of this work is to perform a review of transfusion practice and the types of preparations available for the newborn platelet transfusion.

    There are three different methods to obtain platelets for transfusion. Until the year 2007 they were obtained from platelet rich plasma of whole blood. Nowadays they are produced from whole blood as well, but mixing the buffy coats of four or five donors (APC). The other method used is of the platelets concentrations by platelets can also be apheresis (PCB).

    In terms of effectiveness, platelet concentrates APC and PCB offer a similar number of platelets, even higher in APC. Comparative studies have shown therapeutical equivalence in terms of post transfusion platelet increase and hemostatic effects.

    From an infectious point of view, security in transfusion medicine is quite high nowadays. What is more, both products are leukocyte depleted, and there are no significative differen­ces in the capacity to induce HLA alloimmunization. On the other hand, storing enough PCB concentrates for all the blood groups in pediatrics would imply high losses due to short expiration dates. We can conclude that APC platelet concentrates are the most adequate for our neonates. PCB would be the first option only in patients with refractory thrombocytopenia associated with HLA alloimmunization.

  • Palabras_clave_ingles Platelet thrombocytopenia buffy coat platelet apheresis platelet rich plasma platelet additive solutions mix or concentrates of the buffy coat alloimmunization
  • Todos_autores E. Martín Álvarez, J.A. Hurtado Suazo, M. Peña Caballero, M.F. Moreno Galdó, S. Oyonarte Gómez1
  • autores listados E. Martín Álvarez, J.A. Hurtado Suazo, M. Peña Caballero, M.F. Moreno Galdó, S. Oyonarte Gómez
  • Correspondecia
    M. Peña Caballero. Unidad Neonatal. Hospital Materno-Infantil «Virgen de las Nieves». Avda. de las Fuerzas Armadas, s/n. 18014 Granada.
    Correo electrónico: mapeca06@yahoo.es
  • Titulo_ingles Platelet transfusion in the newborn
  • Centros_trabajo Unidad Neonatal. Hospital Materno-Infantil «Virgen de las Nieves». Granada.1Centro Regional de Transfusión Sanguínea. Granada-Almería
  • Publicado en Acta Pediatr Esp.2010; 68(10): 487-492
  • copyright ©2010 Ediciones Mayo, S.A.
  • Fecha recepcion 07/03/10
  • Fecha aceptacion 12/07/10
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