Tumor óseo de células gigantes en techo orbitario de paciente con retinoblastoma bilateral / Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma

Paciente de 5 años de edad con diagnóstico de retinoblastoma hereditario bilateral tratada con radioterapia en el ojo izquierdo (OS) y enucleación del ojo derecho (OD). Después de 3 años sin evidencia de progresión presenta una nueva masa tumoral en la órbita derecha, con compromiso del techo, cuyo diagnóstico anatomopatológico tras su exéresis mediante abordaje neuroquirúrgico resultó ser de tumor óseo de células gigantes. Los tumores óseos primarios de la órbita como el tumor de células gigantes son una entidad poco frecuente. Los estudios radiológicos y anatomopatológicos resultan esenciales para establecer el diagnóstico diferencial de las lesiones que asientan en la órbita

A case is presented of a 5 year-old patient with bilateral hereditary retinoblastoma treated with radiotherapy in the right eye and enucleation of the left eye. After three years without evidence of progression, the patient presented with a right orbital mass that compromised the frontal bone. After surgical excision, the histology analysis was consistent with a diagnosis of giant cell tumour. Primary orbital bone neoplasms, such as giant cell tumours, are extremely rare. Both radiological and histopathology studies are essential to establish the differential diagnosis of orbital mass lesions

Giant cell tumour of frontal bone in a patient with bilateral retinoblastoma. / Tumor óseo de células gigantes en techo orbitario de paciente con retinoblastoma bilateral.

A case is presented of a 5 year-old patient with bilateral hereditary retinoblastoma treated with radiotherapy in the right eye and enucleation of the left eye. After three years without evidence of progression, the patient presented with a right orbital mass that compromised the frontal bone. After surgical excision, the histology analysis was consistent with a diagnosis of giant cell tumour. Primary orbital bone neoplasms, such as giant cell tumours, are extremely rare. Both radiological and histopathology studies are essential to establish the differential diagnosis of orbital mass lesions.

Nódulos subcutáneos como forma de presentación de síndrome linfoproliferativo maligno / Subcutaneous nodules as a sign of malignant lymphoproliferative syndrome

En su mayoría, las lesiones cutáneas de los procesos malignos aparecen de forma concomitante o posterior al diagnóstico del tumor primario. Se presenta el caso de una niña con tumefacción en la cara externa del pie derecho desde los 5 meses de vida, durante un ingreso hospitalario a los 7 meses por bronquiolitis con pancitopenia, el mielograma mostró hipoplasia mieloide y megacariocítica, con ecografía abdominal y del pie normales. Tras la administración de corticoterapia por su cuadro respiratorio y soporte transfusional, al alta se objetivó desaparición de la lesión del pie. Dos meses más tarde presentó reaparición de la tumefacción junto con nódulos subcutáneos diseminados. Confirmada la infiltración maligna en la biopsia cutánea, la estadificación demostró infiltración blástica del 6% en mielograma y afectación ganglionar abdominal en ecografía y tomografía computarizada. El inmunofenotipo F confirmó el diagnóstico de linfoma linfoblástico pre-B muy inmaduro. Se administró quimioterapia según protocolo EURO-LB-02 para estadio IV. En remisión completa al finalizar la fase de inducción; la paciente presentó recaída leucémica refractaria a los 13 meses del diagnóstico. Comentario: Ante una lesión cutánea de evolución tórpida se debe realizar una toma de biopsia para descartar malignidad. El diagnóstico diferencial de las lesiones cutáneas malignas en los niños (especialmente en lactantes) incluye fundamentalmente infiltración secundaria a leucemia o linfoma, metástasis de neuroblastoma o rabdomiosarcoma y, con menor frecuencia, otros procesos primarios. En esta paciente con presentación cutánea aislada, el curso de su proceso linfoproliferativo maligno pudo modificarse mediante la corticoterapia recibida previa al diagnóstico definitivo (AU)

Skin involvement in children with malignant processes usually appears at the same time or after the diagnosis of the primary tumour. We present the case of a girl with cutaneous involvement prior to the diagnosis of a malignant lymphoproliferative process. A previously healthy 5-month old girl who presented with an inflammatory subcutaneous lesion on the right foot. During hospital admission due to bronchiolitis at 7 months with associated pancytopenia while the myelogram showed myeloid and megakaryocytic hypoplasia, the abdominal and foot ultrasound were normal. After completing corticoid therapy for her respiratory process and transfusional support, the foot lesion had disappeared at discharge. Two months later she had a local recurrence with associated scattered subcutaneous nodules. The skin biopsy confirmed malignant infiltration; the myelogram showed 6% blast infiltration, and both abdominal ultrasound and CT scan demonstrated lymph node involvement. Immunophenotype confirmed the diagnosis of Precursor B Cell Lymphoblastic Leukemia-Lymphoma. Although complete remission was achieved at the end of the induction chemotherapy according EuroLB-02 protocol for stage IV, the patient presented a refractory leukaemia relapse thirteen months after diagnosis. Commentary: Malignancy should be suspected in the presence of a skin lesion with torpid evolution and biopsy should be considered. Differential diagnosis of malignant skin lesions in children, especially in infants, must include mainly secondary involvement of leukaemia, lymphoma, metastases of neuroblastoma or rhabdomyosarcoma and less frequently other primary processes. In our patient with an isolated cutaneous presentation, the progression of her malignant lymphoproliferative process could be modified by the corticotherapy given before the definitive diagnosis (AU)

[Subcutaneous nodules as a sign of malignant lymphoproliferative syndrome]. / Nódulos subcutáneos como forma de presentación de síndrome linfoproliferativo maligno.

UNLABELLED: Skin involvement in children with malignant processes usually appears at the same time or after the diagnosis of the primary tumour. We present the case of a girl with cutaneous involvement prior to the diagnosis of a malignant lymphoproliferative process. A previously healthy 5-month old girl who presented with an inflammatory subcutaneous lesion on the right foot. During hospital admission due to bronchiolitis at 7 months with associated pancytopenia while the myelogram showed myeloid and megakaryocytic hypoplasia, the abdominal and foot ultrasound were normal. After completing corticoid therapy for her respiratory process and transfusional support, the foot lesion had disappeared at discharge. Two months later she had a local recurrence with associated scattered subcutaneous nodules. The skin biopsy confirmed malignant infiltration; the myelogram showed 6% blast infiltration, and both abdominal ultrasound and CT scan demonstrated lymph node involvement. Immunophenotype confirmed the diagnosis of Precursor B Cell Lymphoblastic Leukemia-Lymphoma. Although complete remission was achieved at the end of the induction chemotherapy according Euro-LB-02 protocol for stage IV, the patient presented a refractory leukaemia relapse thirteen months after diagnosis. COMMENTARY: Malignancy should be suspected in the presence of a skin lesion with torpid evolution and biopsy should be considered. Differential diagnosis of malignant skin lesions in children, especially in infants, must include mainly secondary involvement of leukaemia, lymphoma, metastases of neuroblastoma or rhabdomyosarcoma and less frequently other primary processes. In our patient with an isolated cutaneous presentation, the progression of her malignant lymphoproliferative process could be modified by the corticotherapy given before the definitive diagnosis.

[Difficulties in the diagnosis of familial hemophagocytic lymphohistiocytosis]. / Dificultades en el diagnóstico de la linfohistiocitosis hemofagocítica familiar.

Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and non-malignant activation of histiocytes and T lymphocytes in the reticuloendothelial system. Diagnostic guidelines include fever, splenomegaly, cytopenia, hypertriglyceridemia and/or hypofibrinogenemia with hemophagocytosis in the bone marrow, spleen or lymph nodes. In many patients diagnosis is difficult due to the lack of diagnostic criteria, hemophagocytosis, variability of clinical presentation, spontaneous improvement and the absence of a specific marker of the disease. When there is strong clinical suspicion of FHL, chemotherapy and immunosuppressor treatment should be started early to achieve complete cure and should be followed by hematopoietic stem cell transplantation. We present the case of a 2-month-old girl who presented fever, anemia and thrombocytopenia, enlarged liver and spleen, hyperferritinemia, hypertriglyceridemia, and hypertransaminasemia without the finding of hemophagocytosis in bone marrow. Two of the girl's relatives had died of fulminant hepatic failure of unknown etiology. The patient improved spontaneously but presented reactivation of the disease 3 weeks later and died after splenic biopsy.

Dificultades en el diagnóstico de la linfohistiocitosis hemofagocítica familiar / Difficulties in the diagnosis of familial hemophagocytic lymphohistiocytosis

La linfohistiocitosis hemofagocítica familiar es una enfermedad caracterizada por proliferación y activación no maligna de histiocitos y linfocitos T en el sistema reticuloendotelial. Los criterios para su diagnóstico incluyen fiebre, esplenomegalia, citopenias, hipertrigliceridemia o hipofibrinogenemia e histología con hemofagocitosis en medula ósea, bazo o ganglios linfáticos. El diagnóstico es difícil en muchos casos debido a la ausencia de algún criterio e incluso de hemofagocitosis, heterogeneidad clínica, posibilidad de regresión espontánea, frecuente antecedente infeccioso, así como la falta de un marcador específico de la enfermedad. Ante una fuerte sospecha diagnóstica, el tratamiento inmunosupresor y quimioterapia debe iniciarse precozmente para alcanzar la curación definitiva con posterior trasplante de progenitores hematopoyéticos. Se presenta el caso de una niña de 2 meses, con 2 familiares fallecidos por fallo hepático fulminante de etiología desconocida que presentó fiebre, anemia, plaquetopenia, hepatosplenomegalia, hiperferritinemia, hipertrigliceridemia y alteración hepática sin hemofagocitosis clara en medula ósea, regresó espontáneamente pero sufrió reactivación a las 3 semanas y falleció tras biopsia esplénica (AU)

[Hereditary spherocytosis in neonates. Review of our caseload]. / Esferocitosis hereditaria neonatal: revisión casuística.

AIM: Review of hereditary spherocytosis diagnosed in infants younger than two months and their follow up. PATIENTS AND METHODS: Retrospective study of 18 infants younger than two months diagnosed from 1973 to 1995. RESULTS: Diagnosis was established in the first week of life in 50% of the patients. Hereditary pattern was autosomic dominant in 94% of the cases. Anaemia was observed in all the patients and hyperbilirubinemia in only 44%, although the latter was the clinical presentation in patients diagnosed at younger age. Exchange transfusion was performed in 3 children (1 with the severe form and 2 with the typical form of the disease). During the first 6 months of age, 55% of infants presented hemolytic crises that required transfusion in 91% of them. Both periodicity of crises and transfusions decreased to 38 and 44% respectively after the first year. Splenectomy was performed in the 3 children with severe forms and in 6 with typical forms (mean age 8 years and 3 months). No cholecystectomy was required so far. CONCLUSIONS: The authors believe that neonatal spherocytosis does not implicate worse prognosis at follow up. Blood support is higher during the first year of life. Elective splenectomy depends on age and transfusional requirements.

Esferocitosis hereditaria neonatal: revisión casuística / Hereditary spherocytosis in neonates. Review of our casuistics

OBJETIVO: Revisión de los niños diagnosticados de esferocitosis hereditaria (EH) antes de los 2 meses de edad y su evolución. PACIENTES Y MÉTODOS: Estudio retrospectivo de 18 pacientes diagnosticados en los primeros 2 meses de vida entre 1973 y 1995.RESULTADOS: La mitad de los pacientes fueron diagnosticados en la primera semana de vida. Se encontró el patrón de herencia autosómica dominante en el 94 por ciento. Se objetivó anemia en el 100 por ciento de los pacientes e ictericia en el 44 por ciento, aunque esta última fue la presentación clínica más frecuente en las formas precoces. Al diagnóstico, 8 pacientes precisaron transfusión de hematíes. De los 3 que precisaron exanguinotransfusión únicamente uno evolucionó a la forma grave de la enfermedad. Se objetivaron un mayor número de crisis hemolíticas (55,5 por ciento) y de necesidades transfusionales (91 por ciento) durante los primeros 6 meses de vida, con disminución a partir del primer año (38 y 44 por ciento, respectivamente). Mientras que en los 3 pacientes con formas graves y en 6 con formas típicas se practicó la esplenectomía a una edad media de 8 años y 3 meses, ninguno de los pacientes ha precisado colecistectomía hasta la fecha. CONCLUSIÓN: No se encuentra una relación clara entre el inicio precoz de la EH y la evolución a formas graves. Las necesidades transfusionales son mayores durante el primer año de vida, con un comportamiento más benigno a partir del mismo. La indicación de esplenectomía viene condicionada por los requerimientos transfusionales y la edad del niño (AU)

Dolor oncológico / Oncologic pain

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