Haploidentical stem cell transplantation in a boy with chronic granulomatous disease

Chronic granulomatous disease is a primary immunodeficiency caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This causes impaired microbial killing, which leads to severe life-threatening bacterial and fungal infections. Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD. Haploidentical HSCT provides a potentially curative treatment option for patients who lack a suitably HLA-matched donor, but only a few cases have been reported in the literature. Herein, we report a boy with X-linked chronic granulomatous disease treated successfully by haploidentical HSCT with post-transplant cyclophosphamide using a treosulfan-based conditioning regimen

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Haploidentical stem cell transplantation in a boy with chronic granulomatous disease.

Chronic granulomatous disease is a primary immunodeficiency caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This causes impaired microbial killing, which leads to severe life-threatening bacterial and fungal infections. Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD. Haploidentical HSCT provides a potentially curative treatment option for patients who lack a suitably HLA-matched donor, but only a few cases have been reported in the literature. Herein, we report a boy with X-linked chronic granulomatous disease treated successfully by haploidentical HSCT with post-transplant cyclophosphamide using a treosulfan-based conditioning regimen.

Hipofibrinogenemia inducida por prednisona en un paciente con leucemia linfoblástica aguda / Hypofrinogenemia induced by prednisone in a case of acute lymphoblastic leukemia

La hipofibrinogenemia es una complicación infrecuente pero bien conocida en el contexto de las leucemias agudas. Generalmente, se asocia a la presencia de una coagulación intravascular diseminada, aunque pueden existir otras causas, como el daño hepático o el empleo de L-asparraginasa. La literatura recoge pocos casos en que esta alteración de la coagulación esté inducida por corticoides, como el aquí presentado. Se expone el caso de un niño diagnosticado de leucemia linfoblástica aguda que desarrolló hipofibrinogenemia tras iniciar tratamiento con prednisona, y se ha realizado una revisión bibliográfica a propósito del caso (AU)

Hypofibrinogenemia is an uncommon but well-recognized complication of acute leukaemia. In most instances, it has been associated with disseminated intravascular coagulation, although other causes as liver injury or treatment with L-asparraginase could exist. The literature includes rare cases in which this coagulation disorder is induced by prednisone as our report. We report the case of a child diagnosed of acute lymphoblastic leukemia with hypofibrinogenemia during the course of treatment with prednisone and we have reviewed the literature concerning the case (AU)

Osteoartropatía hipertrófica y enfermedad de Hodgkin / Hypertrophic osteoarthropathy and Hodgkin's disease

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Osteosarcoma y síndrome ATR-16, ¿asociación o coincidencia? / Osteosarcoma and ATR-16 syndrome: Association or coincidence?

El síndrome ATR-16 se debe a alteraciones en el cromosoma 16p13.3 y se caracteriza por -talasemia, retraso mental leve-moderado, rasgos faciales dismórficos, malformaciones genitourinarias y esqueléticas. No hay hasta el momento actual ninguna referencia bibliográfica sobre asociación con osteosarcoma. l osteosarcoma se presenta generalmente con un cariotipo complejo, caracterizado por un lto grado de heterogeneidad de aberraciones cromosómicas, entre las que ocasionalmente se ha encontrado la afectación del cromosoma 16. resentamos un caso clínico de un paciente con síndrome ATR-16 diagnosticado de osteosarcoma femoral

ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma

[Osteosarcoma and ATR-16 syndrome: association or coincidence?]. / Osteosarcoma y síndrome ATR-16, ¿asociación o coincidencia?

ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma.

Lactante con vómitos, hipertransaminasemia y fiebre: un diagnóstico insospechado / Infant with vomiting, elevated transaminases and fever: An unsuspected diagnosis

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