Manifestaciones endocrinas de los tumores germinales del sistema nervioso central en niños / Endocrine manifestations of central nervous system germ cell tumors in children

INTRODUCCIÓN: Los tumores germinales del sistema nervioso central deben ser correctamente diagnosticados, pues su tratamiento suele ser eficaz y no siempre requieren cirugía. Los objetivos del estudio son describir las manifestaciones endocrinas de estas neoplasias y comparar su momento de aparición con el de las alteraciones neurológicas y visuales. PACIENTES Y MÉTODOS: Revisión de historias de pacientes menores de 14 años atendidos en una unidad de endocrinología pediátrica desde 2000 hasta 2018. Pruebas estadísticas: Wilcoxon y Fisher. RESULTADOS: Se estudió a 12 pacientes (10 mujeres) con una edad al diagnóstico de 9,4±1,7 años y un tiempo de seguimiento de 5,5±3,0 años; 10 presentaban tumores de la región selar, uno pineal y uno bifocal. Las alteraciones clínicas que llevaron al diagnóstico eran neurológicas o visuales en 9casos y hormonales en 3. De los que consultaron por síntomas neurológicos o visuales, 7 refirieron previamente alteraciones hormonales, luego, estas estaban presentes en 10 de los niños al diagnóstico; la más frecuente fue la diabetes insípida central (8 casos). El periodo medio de presencia de síntomas endocrinológicos previos al diagnóstico fue de 25,0±26,2 meses, mucho más largo que el de los neurooftalmológicos, de 2,0±2,1 meses (p = 0,012). CONCLUSIONES: Casi todos los tumores germinales intracraneales presentaron al diagnóstico manifestaciones endocrinas, la más frecuente de las cuales fue la diabetes insípida central. Los síntomas hormonales suelen presentarse bastante antes que los neurooftalmológicos. La correcta valoración clínica y endocrinológica puede adelantar el diagnóstico de estos tumores

INTRODUCTION: Central nervous system germ cell tumors need to be adequately diagnosed because their treatment is usually effective and they do not always require surgery. The study objectives are to describe the endocrine manifestations of these tumors and to compare the time of their onset to that of the occurrence of neurological and visual changes. PATIENTS AND METHODS: The medical histories of patients under 14 years of age seen at a pediatric endocrinology unit between 2000 and 2018 were reviewed. Wilcoxon and Fisher statistical tests were performed. RESULTS: We found 12patients (10 females) with an age at diagnosis of 9.4±1.7 years and a follow-up time of 5.5±3.0 years, 10with tumors in the sellar region, and each one with a pineal gland and a bifocal tumor. Clinical changes leading to diagnosis were neurological and/or visual in 9patients and hormonal in three. Seven patients diagnosed on the basis of neurological or visual symptoms had previously reported hormonal changes, giving us a total of 10 children at diagnosis (the most common diagnosis was central diabetes insipidus, found in 8). Endocrine symptoms had been present before diagnosis for 25.0±26.2 months, considerably longer than neuro-ophthalmological complaints (2.0±2.1 months, p = 0.012). CONCLUSIONS: Almost all intracranial germ cell tumors have associated endocrine manifestations at diagnosis, with central diabetes insipidus the most common. Hormonal symptoms usually appear long before neuro-ophthalmological manifestations. Adequate clinical and endocrinological assessment may allow for an earlier diagnosis of these tumors

Endocrine manifestations of central nervous system germ cell tumors in children. / Manifestaciones endocrinas de los tumores germinales del sistema nervioso central en niños.

INTRODUCTION: Central nervous system germ cell tumors need to be adequately diagnosed because their treatment is usually effective and they do not always require surgery. The study objectives are to describe the endocrine manifestations of these tumors and to compare the time of their onset to that of the occurrence of neurological and visual changes. PATIENTS AND METHODS: The medical histories of patients under 14 years of age seen at a pediatric endocrinology unit between 2000 and 2018 were reviewed. Wilcoxon and Fisher statistical tests were performed. RESULTS: We found 12patients (10 females) with an age at diagnosis of 9.4±1.7 years and a follow-up time of 5.5±3.0 years, 10with tumors in the sellar region, and each one with a pineal gland and a bifocal tumor. Clinical changes leading to diagnosis were neurological and/or visual in 9patients and hormonal in three. Seven patients diagnosed on the basis of neurological or visual symptoms had previously reported hormonal changes, giving us a total of 10 children at diagnosis (the most common diagnosis was central diabetes insipidus, found in 8). Endocrine symptoms had been present before diagnosis for 25.0±26.2 months, considerably longer than neuro-ophthalmological complaints (2.0±2.1 months, p=0.012). CONCLUSIONS: Almost all intracranial germ cell tumors have associated endocrine manifestations at diagnosis, with central diabetes insipidus the most common. Hormonal symptoms usually appear long before neuro-ophthalmological manifestations. Adequate clinical and endocrinological assessment may allow for an earlier diagnosis of these tumors.

Lumbosacral abortive hemangioma with intradural extension.

Abortive hemangioma (AH) is a true hemangioma of infancy that expresses glucose transporter-1 protein in the endothelial cells, with an arrested growth cycle. We present the rare case of a lumbosacral AH with intramedullary extension.

Baseline thymic volume is a predictor for CD4 T cell repopulation in adult HIV-infected patients under highly active antiretroviral therapy.

The objective of the present study was to assess the impact of baseline thymic volume on the CD4 cell repopulation induced by highly active antiretroviral therapy (HAART) in HIV-infected adults. Therefore, 37 previously untreated HIV-1-infected adults were prospectively followed from August 1998 to September 2001. All patients underwent a thorax CT scan at starting HAART to measure thymic volume. The median follow-up time was 189 [87.5-498.5] days. CD4 cell repopulation was considered as an increase > or = 200 cells/mm3 above baseline count. Twenty-one (57%) patients achieved this CD4 repopulation. Baseline thymic volume was the main independent factor associated with CD4 repopulation (P = 0.016); this factor was a positive predictor (adjusted hazard ratio: 1.25 [95% confidence interval 1.1-1.4]). Although, CD4 cell count and non-AIDS diagnosis at baseline were associated with CD4 cell repopulation on the univariate analysis (P = 0.03 and P = 0.02, respectively), no statistical signification was found on the multivariate test. In summary, baseline thymic volume is a predictor of early CD4 cell repopulation in adult HIV-1-infected patients taking HAART.

Evidence of thymic function in heavily antiretroviral-treated human immunodeficiency virus type 1-infected adults with long-term virologic treatment failure.

Thymic function was evaluated in 32 heavily antiretroviral-treated human immunodeficiency virus type 1 (HIV-1)-infected adults with long-term virologic treatment failure by measuring thymic volume, by determining the absolute number of naive T cell phenotypes, and by determining the number of cells carrying T cell receptor excision circles (TRECs). There was a significant inverse correlation between age and thymic volume (r=-0.415; P=.018), and there was a significant direct correlation between thymic volume and total naive T cell counts (r=0.529; P=.002), naive CD4(+) cell counts (r=0.437; P=.012), naive CD8(+) cell counts (r=0.467; P=.007), and TREC levels (r=0.391; P=.027). In conclusion, this study found clear evidence that the thymus of heavily antiretroviral-treated HIV-1-infected adults with long-term virologic treatment failure is actively engaged in thymopoiesis, which generates new naive T cells for the peripheral lymphocyte pool.

T-cell repopulation and thymic volume in HIV-1-infected adult patients after highly active antiretroviral therapy.

The origin of T cells after highly active antiretroviral therapy (HAART) in patients infected with human immunodeficiency virus 1 (HIV-1) is now under discussion. The possibility of renewed lymphopoiesis in aged thymuses is still controversial. In this work we combine the analysis of naïve T cells, T-cell receptor excision circles (TRECs), and computed tomography scanning of thymic tissue to further assess whether the thymus is involved in immune reconstitution. Fifteen antiretroviral-naïve HIV-1-infected patients were evaluated during 48 weeks of HAART. At baseline, significant correlation was present among age and both thymic volume and TRECs, and between naïve T cells and TRECs. After starting HAART, there was a significant increase at week 12 in naïve CD4(+) and CD8(+) T cells, TRECs, and thymic volume. The initial net increases in naïve T cells and TREC counts were significantly correlated. Changes in thymic volume and TRECs were also indirectly related; splitting the population into 2 groups of high and low baseline TREC levels, only the group with low TREC levels had significant increases in both TRECs and thymic volume. Thus, the increase in thymic volume might be functional, in response to depleted TREC levels. Taken together, our data strongly suggest a thymic role in immune reconstitution, at least in patients with depleted baseline TREC levels. (Blood. 2002;99:3702-3706)

Pancreatitis por Clostridium perfringens con retroneumoperitoneo extenso / Pancreatitis caused by Clostridium perfringens infection with extensive retropneumoperitoneum

Presentamos un caso de pancreatitis enfisematosa primaria debida a infección por Clostridium Perfringens (CP), (también llamada gangrena gaseosa pancreática espontánea), en un varón de 66 años de edad, diabético y con antecedentes de pancreatitis recidivante. Es destacable la escasa focalidad del proceso, que se manifiesta radiológicamente con un extenso retroneumoperitoneo (RNP) y diseminación de el gas hacia la raíz del mesenterio y los espacios pélvicos extraperitoneales. Esta gran difusión está propiciada por las toxinas del propio Clostridium y por las enzimas pancreáticas liberadas, dando un cuadro de evolución fulminante con una mortalidad temprana y elevada en todos los casos revisados. El diagnóstico precoz de esta entidad es fundamental para instaurar un tratamiento enérgico médico y quirúrgico urgente. La diabetes es un factor de riesgo conocido para la infección por gérmenes anaerobios y entre ellos el CP, como es el caso de la colecistitis enfisematosa. Un páncreas o conducto pancreático patológico, facilita la aparición de infecciones, ya que aclara mal los gérmenes que a él acceden desde el duodeno. La gangrena gaseosa secundaria a sobreinfección de necrosis o colecciones pancreáticas es rara y la espontánea o primaria es excepcional (AU)