[Paracentesis as abdominal decompression therapy in neuroblastoma MS with massive hepatomegaly]. / Paracentesis como tratamiento descompresivo abdominal en neuroblastoma MS con hepatomegalia masiva.

Neuroblastoma MS with massive hepatomegaly is a small percentage of cases of neuroblastoma. It is more common in infants less than 4-6 weeks of life, and involves, in contrast to the standard of the NB MS, poor prognosis given the complications that can have. In the case of abdominal compartment syndrome it is recommended a quick start of chemotherapy, associating or not radiation therapy, to try to reduce the size of the liver, and if necessary, decompressive laparotomy. We present the case of a patient with NB MS, massive hepatomegaly and threatening symptoms for life, in which the surgical attitude that got relieve intra-abdominal compression syndrome consisted just in an evacuating paracentesis.

El neuroblastoma MS (o 4S según la nomenclatura clásica) con hepatomegalia masiva supone un mínimo porcentaje de los casos de neuroblastoma. Es más frecuente en lactantes de menos de 4-6 semanas de vida, y conlleva, al contrario que la norma del NB MS, mal pronóstico dadas las complicaciones que puede tener. En caso de síndrome compartimental abdominal se aconseja inicio rápido de tratamiento quimioterápico, asociando o no radioterapia para intentar reducir el tamaño del hígado, y en caso de ser necesario, laparotomía descompresiva. Presentamos el caso de una paciente con NB MS, hepatomegalia masiva y síntomas amenazantes para la vida, en la que la actitud quirúrgica que consiguió aliviar el síndrome de compresión intraabdominal consistió únicamente en paracentesis evacuadora.

[Update on L-asparaginase treatment in paediatrics]. / Actualización del tratamiento con L-asparraginasa en Pediatría.

L-asparaginase (L-ASP) is one of the cornerstones of the treatment of acute lymphoblastic leukemia and non-Hodgkin lymphoma. It is an enzyme of bacterial origin capable of transforming L-asparagine to aspartic acid. The extracellular depletion of L-asparagine inhibits protein synthesis in lymphoblasts, inducing their apoptosis. Numerous studies have demonstrated that treatment with L-ASP improves survival of patients, but there are clear differences in the characteristics of the three currently available formulations. This article reviews the dosage, activity and side effects of the two L-ASP derived from Escherichia coli (native and pegylated), and the one derived from Erwinia chrysanthemi (Erwinia ASP). Despite its indisputable indication over the past50 years, there are still many points of contention, and its use is still marked by the side effects of the inhibition of protein synthesis. The short half-life of native forms, and the most frequently used parenteral administration by intramuscular injections, affects the quality of life of the patients. Therefore, recent studies claim to evaluate alternatives, such as the formulation of longer half-life pegylated L-ASP, and the use of intravenous formulations. There are encouraging results to date with both preparations. Still, further studies are needed to establish which should be the formulation and frontline indicated route of administration, optimal dosing, and management of adverse effects.

[Familial splenomegaly as a first clinical sign of autoimmune lymphoproliferative syndrome]. / Esplenomegalia familiar como manifestación clínica del síndrome linfoprolifetativo autoinmune.

BACKGROUND: The autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defect in lymphocyte apoptosis. Chronic lymphadenopathy and splenomegaly are the consequence of lymphoproliferation. The diagnosis is based on the assessment of the defective lymphocyte apoptosis and the identification of lymphocyte T subset that are double negative (CD4-CD8-). The susceptibility to lymphoma and autoimmune diseases, mainly blood cytopenias is increased. METHODS: We studied a 14 year-old boy with chronic splenomegaly and familial history of splenomegaly and lymphadenopathy. T lymphocyte phenotypes, and molecular defect of TNFRSF6 gene were studied in the child, his sister and his father. Lymphocyte apoptosis was also analysed in the child and his father. RESULTS: The boy and his father showed in vitro apoptosis defects, an increased number of double negative T lymphocytes (18% and 5%, respectively) and the same mutation in the TNFRSF6 gene. His sister had 16% of double negative T lymphocytes and the mutation in the TNFRSF6 gene. COMMENTS: Chronic familial splenomegaly can be the only clinical sign of autoimmune lymphoproliferative syndrome.

[Paediatric one-stop surgery: a series of 75 cases]. / Cirugía de alta resolución pediátrica: una serie de 75 casos.

By one-stop surgery is meant the performing of both the pre-surgery assessment and the surgical procedure on the same day. We report our experience with a pilot study on one-stop surgery in the province of Bizkaia, with a population of 124,494 children aged 1 to 14 years old. Under the new scheme, the patient average of four visits to the hospital outpatient clinics was cut down to only one. Diagnosis and pre-surgery assessments were made by the children's Primary Care Paediatricians at their NHS clinics. Seventy-five children were treated over 10 months. They had abdominal wall, genital or soft tissue surgery. Only two developed minor complications. Families were generally satisfied with the quality of the medical care received as shown by a survey: 32.7% scored it as "excellent", 36.2% "very good", 24.1% "good" and 3.4% "medium". We think that one-stop surgery is a breakthrough in ambulatory surgery. Not only does it dramatically lower the number of visits to hospital outpatient clinics, but also the waiting time for surgery, the costs, and the surgeon's workload, and helps streamline the Public Health Services and the quality of the medical care as perceived by both patients and families. Ensuring a close relationship between Paediatric Surgeons and Primary Care Paediatricians is paramount.

[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.

[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.

[Ovarian tumors in childhood: apropos of a review of cases]. / Tumores ováricos en la infancia: a propósito de una revisión casuística.

OBJECTIVE: Our objective was to evaluate the incidence and behavior of ovarian tumors in our population. PATIENTS AND METHODS: Between 1984 and 1994, all clinical charts with the diagnosis of ovarian tumors were reviewed retrospectively. Of 158 tumors in females below 14 years of age, 7 were located in the ovary (4.4%). Clinical presentation, diagnostic methods, histology, treatment and survival were evaluated. RESULTS: The mean age of the patients was 11.3 years (range: 7 months-13.5 years). One child was asymptomatic, 4 complained of abdominal pain, 3 with vomiting and 3 with urinary symptoms. Palpable abdominal masses were found in all, with abdominal distension in 2, ascytes, general malaise and precocious puberty each in one case. Alpha-fetoprotein was elevated in 3 cases and CA 125 in 1. Image studies revealed pleural effusion in one X-ray abdominal mass in 6 abdominal X-rays, which was confirmed by echography in all girls. Histology revealed benign teratoma (3), endodermal sinus tumor (1), malignant teratoma (1), granulosa cell tumor (1) and mixed teratoma and dysgerminoma (1). Treatment consisted in surgical resection (7), total in 5 cases (stage I) and subtotal in 2 (one malignant teratoma and one TSE, stages III). Chemotherapy was added initially in 2 stage III tumors and after relapse in 3. Radiotherapy was not given. Six girls survived. CONCLUSIONS: We comment on the low incidence of these tumors, which can be well diagnosed by using echography. Mixed histology may be misdiagnosed. Chemotherapy may rescue the worse prognostic cases.

[Second solid tumors in childhood. Review based on three cases]. / Segundos tumores sólidos en la infancia. Revisión a propósito de tres casos.

As children with cancer survive longer, the incidence of second malignant neoplasms has increased considerably. We describe here three cases of second solid tumors after 12, 8 and 2 years of initial diagnosis of cancer: one osteosarcoma of left maxilla in a previously treated child with bilateral retinoblastoma, a temporal astrocytoma associated with acute lymphoblastic leukemia and a glioblastoma multiforme in a girl with neurofibromatosis de Von Recklinghausen, after Non Hodgkin lymphoma, respectively. We review the literature about the influence of genetic, immunologic and therapeutic factors involved in the appearance of these second tumors.

[Increased survival rates of children with cystic fibrosis]. / Aumento de la supervivencia en niños con fibrosis quística.

Seventy-two patients with cystic fibrosis were under care between January 1st 1972 and December 31st 1988, and 75 until now (July 1989). Fifty are alive, 24 died and 1 was lost to follow-up. The number of alive patients under control at the end of every year rose from 5 in 1972 up to 47 in 1988 and 50 at present. In order to assess the progress of survival rates, we compared two periods: 1972-1980 and 1981-1988. Twenty-eight were under control during the first period and 16 (57%) died, these figures for the second period being 55 and 8 (14%) (p 0.001) respectively. A remarkable increase in cumulative survival rates during the second period was observed at ages 1 (96% vs 68%), 5 (94% vs 55%) and 10 (86% vs 28%). Greater experience and closer follow-up, together with more aggressive treatment are likely to account for the increase in survival. It is vital that reference cystic fibrosis centers should be set-up in our country for the management of so complex a disease as 'cystic fibrosis.