Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition.

BACKGROUND: Melanomas of the central nervous system (CNS) based on neurocutaneous melanocytosis (NCM) are exceptionally rare in childhood and have been described only sporadically. Rapidly progressive disease may represent a major challenge for treating physicians, especially given the limited knowledge about this condition. This analysis aimed to increase knowledge about the occurrence and treatment of these malignancies. PROCEDURE: Data on diagnosis, treatment, and outcome of patients aged 0-18 years with CNS melanoma based on NCM recorded in the German Registry for Rare Pediatric Tumors (STEP registry) were analyzed. Additionally, published case reports on this condition were analyzed. RESULTS: In STEP, five patients with leptomeningeal melanoma based on NCM were identified, with a median age at melanoma diagnosis of 3.7 years. Various multimodal treatments were performed: (partial) resection (n = 4), irradiation (n = 2), trametinib (n = 3), different cytostatics (n = 2), and anti-GD2 immunotherapy (n = 1). All patients died between 0.3 and 0.8 years after diagnosis. Including published case reports, 27 patients were identified with a median age of 2.8 years at melanoma diagnosis (range: 0.2-16.6). Fourteen of 16 cases with reported data had a NRAS alteration (88%), particularly NRAS p.Q61K (85%). In the expanded cohort, no patient survived longer than 1 year after diagnosis despite multimodal therapy (including trametinib; n = 9), with a median survival of 0.4 years (range 0.1-0.9). CONCLUSIONS: CNS melanomas based on NCM in childhood are aggressive malignancies without curative treatment to date. Therapeutic approaches must be individualized. Genetic tumor sequencing is essential to improve understanding of tumorigenesis and potentially identify new therapeutic targets.

Pediatric sellar teratoma - Case report and review of the literature.

BACKGROUND: Intracranial teratoma represents a rare neoplasm, occurring predominantly during childhood. Characteristic symptoms depend on the location but are mainly hydrocephalus, visual disturbances, hypopituitarism, and diabetes insipidus. Initial diagnosis can be challenging due to similar radiological features in both teratomas and other lesions such as craniopharyngiomas. Gross total resection is recommended if feasible and associated with a good prognosis. CASE DESCRIPTION: A 10-year-old girl presented with newly diagnosed growth retardation, fatigue, cephalgia and bilateral hemianopia. Further laboratory analysis confirmed central hypothyroidism and hypercortisolism. Cranial magnetic resonance imaging showed a cystic space-occupying lesion in the sellar and suprasellar compartment with compression of the optic chiasm without hydrocephalus present, suspicious of craniopharyngioma. Subsequently, an endonasal endoscopic transsphenoidal near-total tumor resection with decompression of the optic chiasm was performed. During postoperative recovery the patient developed transient diabetes insipidus, the bilateral hemianopia remained unchanged. The patient could be discharged in a stable condition, while hormone replacement for multiple pituitary hormone deficiency was required. Surprisingly, histopathology revealed conspicuous areas of skin with formation of hairs and squamous epithelia, compatible with a mature teratoma. CONCLUSIONS: We present an extremely rare case of pediatric sellar teratoma originating from the pituitary gland and a review of literature focusing on the variation in presentation and treatment. Sellar teratomas are often mistaken for craniopharyngioma due to their similar radiographic appearances. However, the primary goal of treatment for both pathologies is to decompress eloquent surrounding structures such as the optic tract, and if applicable, resolution of hydrocephalus while avoiding damage to the pituitary stalk and especially the hypothalamic structures. If feasible, the aim of surgery should be gross total resection.

Menopausal hormone therapy and central nervous system tumors: Danish nested case-control study.

BACKGROUND: Use of estrogen-containing menopausal hormone therapy has been shown to influence the risk of central nervous system (CNS) tumors. However, it is unknown how the progestin-component affects the risk and whether continuous versus cyclic treatment regimens influence the risk differently. METHODS AND FINDINGS: Nested case-control studies within a nationwide cohort of Danish women followed for 19 years from 2000 to 2018. The cohort comprised 789,901 women aged 50 to 60 years during follow-up, without prior CNS tumor diagnosis, cancer, or contraindication for treatment with menopausal hormone therapy. Information on cumulative exposure to female hormonal drugs was based on filled prescriptions. Statistical analysis included educational level, use of antihistamines, and use of anti-asthma drugs as covariates. During follow-up, 1,595 women were diagnosed with meningioma and 1,167 with glioma. The median (first-third quartile) follow-up time of individuals in the full cohort was 10.8 years (5.0 years to 17.5 years). Compared to never-use, exposure to estrogen-progestin or progestin-only were both associated with increased risk of meningioma, hazard ratio (HR) 1.21; (95% confidence interval (CI) [1.06, 1.37] p = 0.005) and HR 1.28; (95% CI [1.05, 1.54] p = 0.012), respectively. Corresponding HRs for glioma were HR 1.00; (95% CI [0.86, 1.16] p = 0.982) and HR 1.20; (95% CI [0.95, 1.51] p = 0.117). Continuous estrogen-progestin exhibited higher HR of meningioma 1.34; (95% CI [1.08, 1.66] p = 0.008) than cyclic treatment 1.13; (95% CI [0.94, 1.34] p = 0.185). Previous use of estrogen-progestin 5 to 10 years prior to diagnosis yielded the strongest association with meningioma, HR 1.26; (95% CI [1.01, 1.57] p = 0.044), whereas current/recent use of progestin-only yielded the highest HRs for both meningioma 1.64; (95% CI [0.90, 2.98] p = 0.104) and glioma 1.83; (95% CI [0.98, 3.41] p = 0.057). Being an observational study, residual confounding could occur. CONCLUSIONS: Use of continuous, but not cyclic estrogen-progestin was associated with increased meningioma risk. There was no evidence of increased glioma risk with estrogen-progestin use. Use of progestin-only was associated with increased risk of meningioma and potentially glioma. Further studies are warranted to evaluate our findings and investigate the influence of long-term progestin-only regimens on CNS tumor risk.

Incidence of venous thromboembolism and bleeding in patients with malignant central nervous system neoplasm: Systematic review and meta-analysis.

Central nervous system (CNS) malignant neoplasms may lead to venous thromboembolism (VTE) and bleeding, which result in rehospitalization, morbidity and mortality. We aimed to assess the incidence of VTE and bleeding in this population. METHODS: This systematic review and meta-analysis (PROSPERO CRD42023423949) were based on a standardized search of PubMed, Virtual Health Library and Cochrane (n = 1653) in July 2023. After duplicate removal, data screening and collection were conducted by independent reviewers. The combined rates and 95% confidence intervals for the incidence of VTE and bleeding were calculated using the random effects model with double arcsine transformation. Subgroup analyses were performed based on sex, age, income, and type of tumor. Heterogeneity was calculated using Cochran's Q test and I2 statistics. Egger's test and funnel graphs were used to assess publication bias. RESULTS: Only 36 studies were included, mainly retrospective cohorts (n = 30, 83.3%) from North America (n = 20). Most studies included were published in high-income countries. The sample size of studies varied between 34 and 21,384 adult patients, mostly based on gliomas (n = 30,045). For overall malignant primary CNS neoplasm, the pooled incidence was 13.68% (95%CI 9.79; 18.79) and 11.60% (95%CI 6.16; 18.41) for VTE and bleeding, respectively. The subgroup with elderly people aged 60 or over had the highest incidence of VTE (32.27% - 95%CI 14.40;53.31). The studies presented few biases, being mostly high quality. Despite some variability among the studies, we observed consistent results by performing sensitivity analysis, which highlight the robustness of our findings. CONCLUSIONS: Our study showed variability in the pooled incidence for both overall events and subgroup analyses. It was highlighted that individuals over 60 years old or diagnosed with GBM had a higher pooled incidence of VTE among those with overall CNS malignancies. It is important to note that the results of this meta-analysis refer mainly to studies carried out in high-income countries. This highlights the need for additional research in Latin America, and low- and middle-income countries.

Hemorrhagic Presentation in Primary Central Nervous System Lymphoma: A Case Study.

BACKGROUND Primary central nervous system diffuse large B-cell lymphoma (DLBCL) is an extremely aggressive brain disease that rarely affects immunocompetent non-elderly patients, particularly with hemorrhagic presentation. Brain magnetic resonance imaging (MRI) plays an important role in the diagnosis of this entity, which typically demonstrates restricted diffusion and a T2 hypointense appearance, suggesting hypercellularity. CASE REPORT A 44-year-old man came to the emergency department with a persistent and treatment-resistant bilateral frontal headache that had been bothering him for the past 3 weeks. Upon conducting a neurological assessment, the patient displayed temporal disorientation and incoherent speech, but without any observable motor deficits. A non-contrast enhanced brain computed tomography scan was carried out, revealing a hyperattenuating, space-occupying lesion and hemorrhage in the left hemisphere of the brain. Subsequently, brain MRI demonstrated hypointense signal on T2-weighted images, restricted diffusion, and homogeneous lesional contrast enhancement, suggesting a very cellular expansive lesion with hemorrhage. To establish a definitive diagnosis, a brain biopsy was undertaken, confirming the presence of DLBCL of the primary central nervous system (germinal center phenotype). CONCLUSIONS Hemorrhagic presentation of primary central nervous system DLBCL occurs very rarely, particularly in non-elderly immunocompetent patients. Brain MRI plays an important role in the diagnosis of this entity, which allows differentiation from high-grade glial or other lesions that present more frequently with hemorrhage. Therefore, it is crucial to suspect lymphoma before surgical intervention for appropriate patient management.

Epilepsy in Patients With Primary CNS Lymphoma: Prevalence, Risk Factors, and Prognostic Significance.

BACKGROUND AND OBJECTIVES: Epilepsy is a common comorbidity of brain tumors; however, little is known about the prevalence, onset time, semiology, and risk factors of seizures in primary CNS lymphoma (PCNSL). Our objectives were to determine the prevalence of epilepsy in PCNSL, to identify factors associated with epilepsy, and to investigate the prognostic significance of seizures in PCNSL. METHODS: We performed an observational, retrospective single-center study at a tertiary neuro-oncology center (2011-2023) including immunocompetent patients with PCNSL and no history of seizures. We collected clinical, imaging, and treatment data; seizure status over the course of PCNSL; and oncological and seizure outcome. The primary outcome was to determine the prevalence of epilepsy. Furthermore, we aimed to identify clinical, radiologic, and treatment-related factors associated with epilepsy. Univariate analyses were conducted using the χ2 test for categorical variables and unpaired t test for continuous variables. Predictors identified in the unadjusted analysis were included in backward stepwise logistic regression models. RESULTS: We included 330 patients, 157 (47.6%) were male, median age at diagnosis was 68 years, and the median Karnofsky Performance Status score was 60. Eighty-three (25.2%) patients had at least 1 seizure from initial diagnosis to the last follow-up, 40 (12.1%) as the onset symptom, 16 (4.8%) during first line of treatment, 27 (8.2%) at tumor progression and 6 (1.8%) while in remission. Focal aware seizures were the most frequent seizure type, occurring in 43 (51.8%) patients. Seizure freedom under antiseizure medication was observed in 97.6% patients. Cortical contact (odds ratio [OR] 8.6, 95% CI 4.2-15.5, p < 0.001) and a higher proliferation index (OR 5.7, 95% CI 1.3-26.2, p = 0.02) were identified as independent risk factors of epilepsy. Patients with PCNSL and epilepsy had a significantly shorter progression-free survival (median progression-free survival 9.6 vs 14.1 months, adjusted hazard ratio 1.4, 95% CI 1.0-1.9, p = 0.03), but not a significantly shorter overall survival (17 vs 44.1 months, log-rank test, p = 0.09). DISCUSSION: Epilepsy affects a quarter of patients with PCNSL, with half experiencing it at the time of initial presentation and potentially serving as a marker of disease progression. Further research is necessary to assess the broader applicability of these findings because they are subject to the constraints of a retrospective design and tertiary center setting.

Omission of etoposide in the treatment of haemophagocytic lymphohistiocytosis secondary to primary central nervous system lymphoma with satisfactory response.

Haemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory condition that can be either familial or acquired and, if untreated, frequently results in multiorgan failure and death. Treatment of HLH typically requires a combination of glucocorticoids and cytotoxic chemotherapy. We describe the case of a woman who presented with signs and symptoms concerning for HLH who was later found to have a primary central nervous system (CNS) diffuse large B-cell lymphoma. Her HLH symptoms were successfully treated with high doses of dexamethasone, and her primary CNS lymphoma was treated with high-dose methotrexate and rituximab. This is a rare case of HLH secondary to primary CNS lymphoma where HLH was controlled with steroids alone and did not require the use of an etoposide-based regimen or cyclophosphamide, doxorubicin, vincristine and prednisone.

Tumor de sistema nervoso central e o paciente pediátrico: alterações fonoaudiológicas / Central nervous system tumor and the pediatric patient: speech-language alterations / Tumor del sistema nervioso central y el paciente pediátrico: trastornosdelhabla y ellenguaje

Introdução: Os tumores do sistema nervoso central (SNC) constituem a segunda neoplasia mais frequente na criança. Os distúrbios tratados pela equipe de fonoaudiologia mais observados em pacientes com tumores são: disfagia, disfonia, alterações de linguagem, transtorno da articulação temporomandibular, disacusia, disartria e paralisia facial. A detecção precoce de alterações fonoaudiológicas em pacientes com tumores pediátricos, na fase do diagnóstico ou início do tratamento, é essencial para um manejo terapêutico mais adequado. Objetivo: descrever as alterações fonoaudiológicas de pacientes pediátricos com diagnóstico de tumor de sistema nervoso central em atendimento durante internação hospitalar. Método: Estudo retrospectivo, com coleta realizada através da pesquisa de dados extraídos de prontuário eletrônico, com dados dos pacientes internados de março de 2016 a agosto de 2018. Para avaliar a associação entre as variáveis categóricas, o teste Qui-quadrado de Pearson foi aplicado. O nível de significância adotado foi de 5% (p<0,05). Resultados: Verificou-se maior relevância nos dados relacionados aos distúrbios de deglutição e motricidade orofacial. Observou-se significância estatística na variável local da lesão - em fossa posterior -, com presença de alterações fonoaudiológicas. Conclusão: A amostra de pacientes oncológicos pediátricos demonstrou alterações fonoaudiológicas, principalmente nas áreas de disfagia e de motricidade orofacial.

Introduction: Central nervous system (CNS) tumors are the second most frequent neoplasm in children. The disorders treated by the speech therapy team most observed in patients with tumors are: dysphagia, dysphonia, language disorders, temporomandibular joint disorder, dysacusis, dysarthria and facial paralysis. Early detection of speech-language pathology changes in patients with pediatric tumors, at the stage of diagnosis or initiation of treatment, is essential for a more appropriate therapeutic management. Objective: to describe speech disorders in pediatric patients diagnosed with a tumor of the central nervous system in care during hospitalization. Method: Retrospective study, with collection performed through the research of data extracted from electronic medical records, with data of patients hospitalized from March 2016 to August 2018. To evaluate the association between categorical variables, Pearson's Chi-square test was applied. The level of significance adopted was 5% (p <0.05). Results: There was greater relevance in the data related to swallowing disorders and orofacial motricity. Statistical significance was observed in the local variable of the lesion - in the posterior fossa -, with the presence of speech-language disorders. Conclusion: The sample of pediatric cancer patients demonstrated speechlanguage disorders, especially in the areas of dysphagia and orofacial motricity.

Introducción: Los tumores del sistema nervioso central (SNC) son la segunda neoplasia maligna más frecuente em niños. Los trastornos tratados por el equipo de terapia del habla más observados en pacientes con tumores son: disfagia, disfonía, transtornos del lenguaje, trastorno de la articulación temporomandibular, disacusis, disartria y parálisis facial. La detección temprana de los câmbios em la patologia del habla y el linguaje en pacientes con tumores pediátricos, em la etapa de diagnóstico o inicio del tratamiento, es esencial para un manejo terapéutico más adecuado. Objetivo: describir los transtornos del habla y el lenguaje de los pacientes pediátricos diagnosticados con tumor del sistema nervioso central em la atención durante la hospitalización. Método: Estudio retrospectivo, com recopilación realizada a través de la investigación de datos extraídos de registros médicos electrónicos, com datos de pacientes hospitalizados de marzo de 2016 a agosto de 2018. Para evaluar la asociación entre variables categóricas, se aplico la prueba de Chi-cuadrado de Pearson. El nivel de significancia adoptado fue del 5% (p<0,05). Resultados: Hubo mayor relevância em los datos relacionados com los trastornos de la deglución y la motricidad orofacial. Se observo importancia estadística em la variable local de la lesión, em la fosa posterior, com la presencia de alteraciones de la patologia del habla y el lenguaje. Conclusión: La muestra de pacientes com cáncer pediátrico demostró la presencia de transtornos del habla y el lenguaje, especialmente em las áreas de disfagia y motricidad orofacial.

Estudio restrospectivo de 48 casos de linfoma primario del sistema nervioso central / Retrospective study of 48 cases of primary central nervous system lymphoma

Los linfomas primarios del sistema nervioso central (LPSNC) son neoplasias infrecuentes confinadas al SNC. Más del 90% son de tipo B y afectan principalmente a pacientes entre 50-70 años. La inmunodeficiencia es el factor de riesgo más importante. El objetivo de nuestro trabajo fue evaluar las características demográficas, estado inmunológico y los hallazgos en los estudios complementarios de pacientes con LPSNC. Se realizó el análisis retrospectivo de 48 casos estudiados en nuestro centro desde enero 1992 a mayo 2015. La edad mediana de presentación fue 61 años (25-84); la relación hombre:mujer 2.1:1. El 85% (41 casos) fueron inmunocompetentes al momento del diagnóstico. El 94% (45 casos) tuvo compromiso parenquimatoso, 4% (2 casos) meníngeo y 2% (1 caso) ocular. El lóbulo más afectado fue el frontal (43%) y 35% tuvieron compromiso ganglio basal. En RM, el 89% mostró realce con contraste y 55% restricción en difusión. El síndrome piramidal fue la manifestación inicial más frecuente (56%). El LCR fue inflamatorio en el 72%, aunque solo 11.1% presentó examen citológico positivo. El tipo más frecuente de LPSNC fue no-Hodgkin B (96%) y el subtipo difuso de células grandes el más habitual (83%). En nuestra serie la ausencia de inmunocompromiso fue una característica frecuente y la presentación clínico-radiológica fue muy pleomórfica. La sospecha inicial permitiría arribar a un diagnóstico temprano, evitando tratamientos empíricos que puedan confundir o retrasar el diagnóstico.

Primary central nervous system lymphoma (PCNSL) is an infrequent form of non-Hodgkin lymphoma restricted to the CNS. More than 90% are type B and mainly affect patients aged 50-70 years. Immunodeficiency is the most important risk factor. The aim of our study was to evaluate the immune status, clinical presentation and findings in complementary studies of PCNSL patients. A retrospective analysis of 48 cases treated in our center between January 1992 and May 2015 was performed. Median age at diagnosis was 61 years (range 25-84); with male predominance (2.1:1). Forty one cases (85%) were immunocompetent patients. Brain MRI findings showed parenchymal involvement in 45 cases (94%), 43% with frontal lobe and 35% basal ganglia, 4% had meningeal involvement and 2% had ophthalmic involvement at diagnosis. Fifty-five percent had restricted signal on diffusion weighted imaging and contrast enhancement was found in 89%. Pyramidal syndrome was the main initial clinical manifestation (56%). There were abnormal findings in 62% of CSF samples, but in only 11.1% positive cytology results were detected. The most frequent type was diffuse large B-cell lymphoma (83%), being B-cell type the most common form between them (96%). In our series PCNSL was more frequent in immunocompetent elderly male subjects. At initial evaluation, clinical manifestations and MRI findings were variable. The initial suspicion of this entity would allow an early diagnosis, avoiding empirical treatments that may confuse or delay diagnosis.

Linfomatosis intravascular cerebral como causa de demencia rápidamente progresiva: reporte de un caso / Cerebral intravascular lymphomatosis as cause of subacute dementia: report of a case

Cerebral Intravascular Lymphomatosis is a type of non Hodgkin Lymphoma, generally composed with B cells, its ocurrence is infrequent, clinically progressive and has a fatal course. Vascular damage is related with tumoral infiltration and small caliber occlusion, with results in multi infarcts. Neurological symptoms and signs are frequently the first clinical manifestation, which include sub acute encephalopathy, cognitive impairment, delirium, aphasia, hemipharesis, visual disturbances, paraplegia, paresthesia and cranial nerves involvement. MRI shows images of vasculitis from CNS. Cerebral Intravascular Lymphomatosis must be considered in differential diagnosis of rapid and subacute dementias, and clinical cases with small vessel recurrent multi infarct of unusual etiology. We present the clinical case of a patient with rapid progressive dementia and systemic disease manifestation. The CNS involvement was characterized as a subacute encephalopathy, with confusion and agitation, seizures, motor disturbances, bilateral plantar extensor reflexes and cerebellar signs. The clinical symptomatic course was progressive, with weight loss and fluctuant fever. The patient had a fatal course after he was treated with Methylprednisolone. Postmortem pathologic examination revealed a diffuse non Hodgkin lymphoma of B cells, intravascular variant, with brain compromise, cerebellum, suprarenal glands, pancreas, myocardium, thyroid gland, lung kidney and the lever...

La linfomatosis intravascular cerebral es un tipo de Linfoma no Hodgkin generalmente de células B, de presentación infrecuente, curso clínico progresivo y fatal. El daño vascular es producto de oclusión de vasos de pequeño calibre por infiltración tumoral, con resultado de múltiples infartos. Las manifestaciones neurológicas suelen ser la forma de presentación clínica inicial, caracterizadas por un amplio espectro que incluye encefalopatía subaguda, deterioro cognitivo, delirio, afasia, hemiparesia, trastornos visuales, paraplejia, parestesias y compromiso de pares craneanos. Los estudios de RNM evidencian alteraciones indistinguibles de las vasculitis del SNC. La linfomatosis intravascular debe considerarse en el diagnóstico diferencial de las demencias rápidamente progresivas y en los cuadros de multi infarto cerebral de pequeño vaso de etiología inusual y recurrente. Se presenta el caso de un paciente con demencia rápidamente progresiva, con manifestaciones neurológicas de deterioro cognitivo y enfermedad sistémica. El compromiso del SNC se expresó como encefalopatía subaguda con confusión, agitación, y crisis convulsivas, trastornos motores con reflejo cutáneo plantar extensor bilateral y compromiso cerebeloso, de curso clínico sintomático progresivo, con baja de peso y fiebre fluctuante. El paciente fue sometido a tratamiento con metilprednisolona a pesar del cual falleció. El estudio necrópsico demostró alteraciones por Linfoma no Hodgkin difuso de células B, variante intra vascular, con compromiso del cerebro, cerebelo, glándulas suprarrenales, páncreas, miocardio, tiroides, pulmón riñón e hígado...

Qué síntomas presentan los niños con cáncer avanzado en cuidados paliativos? / Symptoms in childrens with advanced cancer who were attended by the palliative care

El dolor es el síntoma más frecuente y que genera más temor en los pacientes y sus cuidadores en la etapa avanzada de la enfermedad oncológica. Estos niños también presentan otros síntomas que pueden provocar importante malestar y empeorar la sensación dolorosa. En nuestro medio no contamos con información en este ámbito, que permita optimizar el tratamiento de estos pacientes. Objetivo. Caracterizar síntomas distintos del dolor en pacientes con cáncer avanzado, controlados por el equipo de cuidado paliativo (CP) del Hospital Roberto del Río. Pacientes y método. Se revisaron 71 fichas clínicas de pacientes ingresados a CP entre abril de 2002 y diciembre de 2010. Se registraron las características demográficas y los diagnósticos fueron clasificados en leucemia aguda, tumores sólidos y tumores del sistema nervioso central (SNC). Se evaluó un listado de síntomas y sus frecuencias. Resultados. El síntoma más frecuente en los pacientes con leucemia aguda fue fiebre (15 por ciento), al igual que los pacientes con tumores sólidos (16 por ciento). En los pacientes con tumores SNC la alteración de conciencia fue el más frecuente (19 por ciento). Sobre el 70 por ciento de los pacientes tuvieron hasta cuatro síntomas y la evaluación de intensidad en la mayoría fue cualitativa. Conclusiones. Síntomas distintos del dolor son frecuentes y pueden producir gran incomodidad. Evaluarlos objetivamente permitiría un mejor manejo, favoreciendo con esto el control del dolor.

Pain is the most common symptom which generates most fear in patients and their caregivers in the advanced stage of cancer. These children also have other symptoms that can cause significant discomfort and exacerbate the sensation of pain. In Chile, there has been no evaluation of the intensity of these symptoms and their effect on pain, and relevant knowledge could improve patient treatment. Objective: Describe symptoms other than pain in patients with advanced cancer who were attended by the palliative care (PC) team at the Roberto del Rio Hospital. Patients and methods: We reviewed medical records of 71 patients admitted to PC between April 2002 and December 2010. We recorded demographic characteristics and diagnoses were classified into acute leukemia, solid tumors and tumors of the central nervous system (CNS). We evaluated a list of symptoms and their frequencies. Results: The most common symptom in patients with acute leukemia was fever (15 percent) as well as in patients with solid tumors (16 percent). In patients with CNS tumors alteration of consciousness was the most frequent (19 percent). Over 70 percent of patients had four or more symptoms and intensity assessment was mostly qualitative. Conclusions: Besides pain, other symptoms are common and can cause great discomfort. Objective assessment of these symptoms would allow better management of children and also optimize pain control.

Tumores del sistema nervioso central de localización selar y supraselar. Alteraciones neuro-oftalmológicas y de la función endocrina al diagnóstico / Sellar and suprasellar central nervous system tumors. Neuro-ophthalmological and endocrine function impairment at diagnosis

Los tumores (Tu) del SNC constituyen la segunda enfermedad oncológica en edad pediátrica, con una incidencia referida aproximada que oscila entre el 10 y 15%. En 309 pacientes con tumores selares y supraselares, seguidos durante 15 años, se evaluó en función de los distintos oncotipos tumorales, síntomas iniciales y alteraciones endocrinológicas previas al inicio del tratamiento. De ellos, 227 pacientes presentaron el tumor a edad prepuberal. Los oncotipos tumorales más frecuentes fueron craneofaringioma (CRA), glioma (GLIA) y tumor de células germinales (GERM). También, se encontró una mayor incidencia de presentación en varones. En edad puberal (n:92), el oncotipo tumoral más frecuente fue adenoma hipofisario (ADENO), seguido de GLIA y CRA. En este ultimo oncotipo tumoral, y, a diferencia del grupo prepuberal, su incidencia fue significativamente mayor en niñas. Aproximadamente 90% de los pacientes tuvieron anormalidades neuro-oftalmológicas (hipertensión craneal, dolores de cabeza, vómitos y pérdida progresiva de la visión) como uno de los signos y/o síntomas iniciales. Alteraciones clínicas endocrinológicas como baja talla, velocidad de crecimiento anormal, diabetes insípida y alteraciones del tempo puberal son frecuentes en estos pacientes y están habitualmente asociadas con las alteraciones clínico-neuro-oftalmológicas como las ya mencionadas. No obstante, la mayoría de los tumores del SNC localizados en la línea media suelen ser diagnosticados por manifestaciones neuro-oftalmológicas. Los resultados del estudio muestran alteración de la función endócrina al diagnóstico del Tu. Se concluye que en todo paciente con crecimiento lento o baja talla, así como también signos clínicos que orienten a un diagnóstico de pubertad precoz y/o retardada, el pediatra debe incluir dentro de los diagnósticos diferenciales, el diagnóstico del tumor selar o supraselar. La morbilidad aumenta frecuentemente luego de la cirugía (AU)

During the last 15 years, 309 patients with tumors of the sellar and suprasellar areas of CNS were followed in our Hospital (Endocrine Service). Tumor oncotype, initial symptoms and endocrine disturbances before any treatment was started are presented. In 227 patients, the tumor was diagnosed at prepubertal age. In this group, the most frequent tumoral oncotypes were craniopharyngioma (CRA), glial tumors (GLIA) and germ cells tumors (GERM). The incidence was higher in boys. At pubertal age (n:92), the most frequent tumoral oncotype was pituitary adenoma (ADENO), followed by GLIA and CRA. In the latter, and different from the prepubertal group, the incidence was significantly higher in girls. Approximately 90% of patients had neuro-ophtalmological abnormalities (cranial hypertension, headaches, vomits, and progressive loss of vision) as one of the initial signs and/or symptoms. Clinical endocrine disorders, such as short stature, low growth velocity, diabetes insipidus, and alterations in pubertal "tempo" are frequent in these patients and are often associated with the neuro-ophtalmological abnormalities mentioned above. This clinical symptomatology has to alert the medical team to discard the presence of a CNS tumor at the sellar and/or suprasellar level. We conclude that tumors of the SNC localized in the midline, have potential capacity to provoke abnormalities in endocrine function. Morbidity is often increased after surgery (AU)

Secuelas Endocrinológicas del Tratamiento de las Enfermedades Oncológicas en la Infancia y Adolescencia / Endocrinological schools of the Treatment of Oncological Diseases in Childhood and Adolescence

Los avances en el tratamiento de las enfermedades oncológicas en la infancia y adolescencia han permitido que la tasa de sobrevida en niños tratados por cáncer aumente progresivamente. Alrededor del 70% de los pacientes pediátricos tratados por tumores del SNC, el 80% por leucemias linfoblásticas agudas y más del 90% por linfoma de Hodgkin sobreviven a los mismos. Los trastornos endocrinos de los diferentes ejes se observan en un alto porcentaje de los sobrevivientes, debido a afecciones producidas por la enfermedad de base, el tratamiento o intercurrencias. Muchas de estas anomalías pueden sobrevenir años o décadas luego del tratamiento. La terapéutica de estas enfermedades comprende diferentes esquemas incluyendo cirugía, quimioterapia y radioterapia. Estos intensos esquemas de tratamiento pueden tener como consecuencia la aparición de diversas secuelas; 40% de los pacientes tratados por enfermedades oncológicas en la infancia va a tener alguna secuela endocrina relacionada con la enfermedad de base, la cirugía, la radio y/o quimioterapia; dependiente de la edad al inicio de la enfermedad y/o tratamiento, el género y el tiempo transcurrido desde la finalización del tratamiento. Postradioterapia craneal el orden de alteración de los ejes es 1) eje somatotrófico, 2) eje gonadotrófico, 3) eje adrenocorticotrófico y 4) eje tiroideo. La radio y quimioterapia pueden producir daño gonadal primario siendo el epitelio germinal del varón el más susceptible. La recuperación a medida que se aleja de la finalización del tratamiento es infrecuente, pero posible. Es de suma importancia conocer las posibles alteraciones con el objeto de realizar un adecuado control de los pacientes, durante su infancia y adolescencia y en la vida adulta. Con este fin se recomienda: • Una observación semestral del crecimiento y desarrollo puberal, en todos los niños tratados por neoplasia maligna, hasta que alcancen su estatura adulta y completen su desarrollo sexual. Se deberá prestar especial atención al inicio precoz de los signos puberales y a la falta de aparición de los mismos dentro del rango de edad esperado. • Un control anual de la función tiroidea, que incluya los valores de TSH y hormonas tiroideas, examen clínico con palpación de la glándula y ecografía. • El nivel de cortisol matinal debe ser determinado anualmente por un período de hasta 15 años luego de la finalización del tratamiento oncológico.

Most children diagnosed with a malignancy may now be expected to become long term survivors. The overall survival rate for childhood cancers is greater than 70% for pediatric central nervous system tumors, 80% for acute lymphoblastic leukemia and exceeds 90% for those diagnosed with Hodgkin´s disease. Endocrine sequelae, ranging from 20 to 50%, have been documented in these children, related to the underlying condition, the nature and dosage of cytotoxic chemotherapy and the amount and schedule of irradiation. Long term effects affecting the endocrine system represent a frequent complication of treatment and many of these endocrine disturbances could develop several years after the completion of treatment schedules. Several factors as age at which treatment was initiated, the length of time since treatment and gender modified these long term late effects. There is a strong association between the total radiation doses and pituitary hormone deficiencies. The growth hormone axis is the most sensitive followed by the gonadotropic and thyrotropic axes. Radio and chemotherapy cause male and female gonadal dysfunction Patients at risk of developing endocrinologic sequelae must be identified and monitored closely to assess the magnitude of any late effects in order to prevent associated morbidity. The following are the recommendations of the Children´s Oncology Group for the surveillance of these group of patients: • Semi-annual screening of growth in all children. Pubertal onset and tempo should be assessed to detect precocious, early, late puberty or gonadal failure. • Annual screening including clinical examination and levels of T4 and TSH. • Serum cortisol levels should be obtained yearly until 15 years off therapy.

Epilepsia asociada a tumores del sistema nervioso central en niños / Epilepsy associated with central nervous system tumors in children

Introducción: La prevalencia de epilepsia en pacientes con tumores del sistema nervioso central (SNC), producto del tumor per se o secundaria al tratamiento, es mayor que en la población general. El objetivo de este estudio es analizar la frecuencia y características de la epilepsia en pacientes pediátricos con tumores del SNC. Método: Estudio descriptivo retrospectivo, realizado a través de la revisión de fichas médicas de los pacientes pediátricos con tumores de SNC entre los años 2001- 2010 en Hospital Carlos Van Buren de Valparaíso. Resultados: Revisados 97 casos pediátricos de tumores del SNC, dieciocho (18,5 por ciento eran portadores de epilepsia, 2/3 sexo masculino, promedio de edad al diagnóstico del tumor fue 7 años y de primera crisis epiléptica 6 años 7 meses. Un 61 por ciento debutó con crisis epilépticas previo al diagnóstico de tumor. Dieciseis de 18 tumores (88 por ciento) fueron supratentoriales, comprometiendo principalmente el lóbulo temporal (9 de 16). Un 83 por ciento fueron neuroepiteliales, los más frecuentes fueron astrocitomas (50 por ciento). Dieciseis casos (88 por ciento) fueron sometidos a intervención quirúrgica. En relación a la epilepsia, 73 por ciento presentó crisis parciales complejas y 38 por ciento (6 casos de 16) evolucionó con epilepsia refractaria durante el seguimiento. Hubo 3 casos que fallecieron. Conclusión: Las crisis epilépticas, sobre todo las crisis focales fueron una manifestación frecuente en este grupo de pacientes pediátricos con tumores del SNC, especialmente en aquellos de localización supratentorial, ya sea como manifestación inicial y clave para el diagnóstico de tumor o durante su evolución. Un 38 por ciento evolucionó como epilepsia refractaria. El número de intervenciones quirúrgicas y la localización tumoral incidieron en la evolución de la epilepsia. Se enfatiza la importancia de una evaluación acuciosa y búsqueda etiológica, en niños que debutan con crisis epilépticas.

Introduction: Patients with brain tumors, show a higher prevalence of epilepsy than the general population, because of the tumor itself or as a consequence of treatment. The aim of this study is to analyze the incidence and characteristics of epilepsy in patients with brain tumors. Method: Retrospective descriptive study, medical records of pediatric patients with brain tumors between the years 2001-2010 from Hospital Carlos Van Buren were reviewed. Results: From 97 patients with brain tumors, 18 (18.5 percent) presented with epilepsy. Two thirds were males. Mean age for brain tumor diagnosis was 7 years, and for first epileptic seizure 6 years 7 months. In 61 percent epileptic seizures started previous to the tumor diagnosis. Sixteen out of 18 patients (88 percent) had supratentorial, mainly temporal tumors (9/16). 83 percent were neuroepithelial, from which astrocytomas were the most frequent (50 percent). Sixteen patients had surgical treatment (88 percent). Epileptic seizures were complex partial in 73 percent. 38 percent evolved to refractory epilepsy in an average of 5 year follow-up. Discussion: Epileptic seizures, mainly complex partial seizures, were a frequent manifestation of patients with brain tumors, specially supratentorial, as the initial event or in follow up. Thirty eight per cent evolved to refractory epilepsy. Number of surgical interventions and localization of the tumor affected the evolution of epileptic seizures. The relevance of searching etiology in children who have a first epileptic seizure is emphazised.

Central nervous system involvement in Hodgkin's lymphoma associated with Epstein-Barr virus in a patient with AIDS: case report and review of the literature

Intracranial and intraspinal involvement is a rare complication of Hodgkin's disease. We report a case of a patient with diagnosis of AIDS and Hodgkin's lymphoma who developed brain and spinal involvement at the time of the relapse of the neoplasm disease. Mixed cellularity histology was the subtype of Hodgkin's disease in our patient; we identified the Epstein-Barr virus genome in the Reed-Sternberg cells by immunohistochemistry and in situ hybridization.

Evaluación y manejo de la cefalea en el niño / Evaluation and management of headache in children

La cefalea es un síntoma frecuente en niños y adolescentes. Su evaluación incluye anamnesis y examen neurológico completos. Luego de éstos, en la mayoría de los casos es posible definir si se trata de una cefalea primaria o secundaria. La indicación de exámenes de laboratorio y/o neuroimágenes debe hacerse sólo después de efectuar la evaluación clínica. Hecho el diagnóstico, el manejo se basa en la resolución de la causa en las cefaleas secundarias; en cambio, en las cefaleas primarias la terapia se define según la frecuencia y severidad del dolor e impacto en la calidad de vida del niño.

Headache is a frequent symptom in children and adolescents. Complete anamnesis and neurological examination are needed to define if headache is primary or secondary. Additional studies are indicated in specific clinical contexts and after a complete evaluation. In secondary headaches the treatment is oriented to the specific etiology. In primary headache, treatment depends on frequency and severity of pain, and mainly considering the impact on the child's quality of life.

Puberdade precoce em tumor de sistema nervoso central: relato de um caso / Precocious puberty in central nervous system neoplasm: report of a case

Os autores apresentam um caso de puberdade precoce em um menino de sete anos, em que após investigaçäo clínica, radiológica, tomográfica e laboratorial foi feita a hipotese diagnóstica de tumor de pineal. Após realizaçäo da cirurgia para ressecçäo tumoral, diagnosticou-se germinoma com áreas de coriocarcinoma em pineal. Os autores mostram a evoluçäo, exames laboratoriais incluindo dosagens hormonais e marcadores biológico, e também os tratamentos cirúrgico e quimioterápico.