Hipocalcemia neonatal precoz por déficit de vitamina D materna. Replanteando la suplementación / A neonatal hypocalcemia due to maternal vitamin D deficiency. Reviewing supplementation

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Safety and effectiveness of vedolizumab in paediatric patients with inflammatory bowel disease: an observational multicentre Spanish study.

Vedolizumab is a humanised monoclonal antibody that binds to integrin α4ß7 expressed in T-cells, inhibiting its binding to the mucosal addressin cell adhesion molecule-1 (MAdCAM-1), which is specifically expressed in the small intestine and colon, playing a fundamental role in T-cell migration to the gastrointestinal tract. Vedolizumab has been shown to be effective in treating adults with inflammatory bowel disease; however, efficacy data for paediatric use are scarce. The objective of the present study was to assess the effectiveness and safety of vedolizumab for inducing and maintaining clinical remission in children with inflammatory bowel disease. We conducted a retrospective multicentre study of patients younger than 18 years with inflammatory bowel disease refractory to anti-tumour necrosis factor alpha (anti-TNF-α) drugs, who underwent treatment with vedolizumab. Clinical remission was defined as a score < 10 points in the activity indices. We included 42 patients, 22 of whom were male (52.3%), with a median age of 13.1 years (IQR 10.2-14.2) at the start of treatment. Of the 42 patients, 14 (33.3%) had Crohn's disease (CD) and 28 (66.7%) had ulcerative colitis (UC). At the start of treatment with vedolizumab, the Paediatric Crohn's Disease Activity Index was 36 (IQR 24-40) and the Paediatric Ulcerative Colitis Activity Index was 47 (IQR 25-65). All of them had received prior treatment with anti-TNF and 3 patients ustekinumab. At week 14, 69% of the patients responded to the treatment (57.1% of those with CD and 75% of those with UC; p=0.238), and 52.4% achieved remission (35.7% with CD and 60.7% with UC; p=0.126). At 30 weeks, the response rate was 66.7% (46.2% and 78.3% for CD and UC, respectively; p=0.049), and 52.8% achieved remission (30.8% and 65.2% for CD and UC, respectively; p=0.047). Among the patients with remission at week 14, 80% of the patients with CD and 84.5% of those with UC maintained the remission at 52 weeks. Adverse effects were uncommon and mild. Three patients (7.1%) presented headaches, 1 presented alopecia, 1 presented anaemia and 1 presented dermatitis.Conclusion: The results show that treatment with vedolizumab is a safe and effective option for achieving clinical remission in paediatric patients with inflammatory bowel disease with primary failure or loss of response to other treatments, especially in UC. What is Known: • Vedolizumab is effective in inducing and maintaining remission in adult patients with inflammatory bowel disease. • Most studies and clinical trials have been performed on adult populations, and there is currently no indication for paediatric populations. What is New: • Children with inflammatory bowel disease refractory to anti-TNF presented higher clinical remission rates than those published for adults. • There are few publications of this magnitude on paediatric populations treated with vedolizumab and with long-term follow-up (52 weeks).

[Caregiver burden in patients with moderate-severe cerebral palsy. The influence of nutritional status]. / Carga del cuidador del paciente con parálisis cerebral moderada-grave: ¿influye el estado nutricional?

INTRODUCTION: Patients with moderate-severe cerebral palsy require the support of their caregivers to carry out the activities of daily living (ADLs). OBJECTIVES: To describe the comorbidities, need for care in children with cerebral palsy and to analyse the influence of the degree of motor involvement, nutritional status and other neurological disorders. METHODS: Cross-sectional and observational study. Patients with cerebral palsy degrees III-IV-V according to the Gross Motor Function Classification System (GMFCS) have been studied. A record of comorbidities has been made and body composition has been studied using anthropometry and bioimpedance. In addition, a caregiver burden survey on ADLs has been carried out (10 items on the different actions: hygiene, clothing, transfers, sleeping and feeding). Which variables have the greatest influence on the perception of difficulty in performing ADLs have been studied. RESULTS: A total of 69 patients (50.7% women, mean age 10.46 ± 0.4 years) were analysed, with GMFCS grades: grade III 36.2% (N=25), grade IV 29.0% (N=20), grade V 34.8% (N=24). A relationship was found between the caregiver burden score and GMFCS grade (P=0.003) and intellectual disability (P<0.001). However, regardless of the degree of GMFCS and intellectual disability, there is greater difficulty in performing ADLs in relation to lower values in weight (Z-score) (P=0.028), fat mass (kg) (P=0.035), fat mass (%) (P=0.094), body mass index (Z-score) (P=0.086). CONCLUSIONS: In addition to the degree of clinical impairment, nutritional status is a factor that influences the caregiver's difficulty in performing the ADLs in cerebral palsy patients on which we can act to improve this problem.

Bone health impairment in patients with cerebral palsy.

Bone health problems may be related to the nutritional deficit in pediatric patients with cerebral palsy. It is common to find asymptomatic vertebral fractures when they have low bone mineral density. Fat mass deficit could be related to a lower bone mineral density and a higher risk of vertebral fractures. OBJECTIVES: To study the bone health of patients with CP and its relationship with neurological and nutritional status. PURPOSE: Cerebral palsy (CP) is the most common cause of motor disability in pediatric age. METHODS: Cross-sectional, observational, descriptive, and analytical study in which patients with CP between 4 and 5 years with Gross Motor Function Classification System (GMFCS) grades III-IV-V were included. It was carried out: survey, anthropometric study, bioimpedanciometry (BIA), and bone densitometry. Patients with low bone mineral density (BMD Z score less than - 2.0) underwent lumbar radiography looking for vertebral fractures to be diagnosed with osteoporosis. RESULTS: Total sample: 51 patients (51.0% women). Mean age: 11.0 ± 0.5 years. BMD Z score average: - 2.1 (95% CI - 2.5, - 1.7). BMD Z score according to GMFCS: grade III - 1.6 (- 2.2; - 1.), grade IV - 1.6 (- 2.4; - 0.9), grade V - 3.1 (- 3.9, - 2.2) (p = 0.013). Bone health classification according to the International Society for Clinical Densitometry was: 47.1% normal, 52.9% low BMD. Relationship between low BMD and low fat mass (p = 0.030) and low cell mass (p = 0.040) was found. Prevalence of vertebral fractures in lumbar radiography: 25.9%, increasing as the degree of neurological involvement. Vertebral fractures were found in 5/13 GMFCS grade V, 2/6 GMFCS grade IV, and 0/10 GMFCS grade III. CONCLUSIONS: Bone health in the pediatric population with CP is compromised in relation to the degree of neurological involvement and nutritional status. Those patients with moderate-severe cerebral palsy and low BMD seem to present an increased risk of fracture.

La experiencia de enfermedad en los hermanos de niños en cuidados paliativos / The illness experience in siblings of children in palliative care

ANTECEDENTES: El diagnóstico de una patología limitante para la vida en un niño supone un gran impacto para la familia y especialmente para los hermanos, pudiendo tener sobre ellos consecuencias tanto positivas como negativas. OBJETIVO: Se pretende explorar varios aspectos de la vida de los hermanos de pacientes pediátricos en cuidados paliativos. MÉTODO: Elaboración de una metasíntesis de textos de la literatura cuyo interés son los hermanos de los pacientes con una patología limitante para la vida. RESULTADOS: La experiencia de enfermedad del niño despierta en los hermanos una serie de sentimientos, tanto positivos como negativos, que deben considerarse normales y que no significa que tengan dificultades. Pueden sentir miedo y preocupación por la enfermedad del niño y por la posibilidad de su muerte, así como dolor y sufrimiento. Pero también pueden tener sentimientos de aislamiento, soledad y de celos y rivalidad hacia su hermano. Como consecuencia de la reorganización de su vida familiar y social a causa de la enfermedad, los hermanos pueden experimentar pérdidas, pero también ganancias emocionales y físicas. Además, los hermanos tienen necesidad de atención, así como de información acerca de la patología del niño enfermo y de participar en su cuidado. Por otro lado, necesitan desarrollar actividades propias e independientes del niño enfermo. Los hermanos generalmente son resilientes y cuentan con factores protectores para el desarrollo de estrategias adaptativas y habilidades de afrontamiento. Por otro lado, existen factores de riesgo que pueden limitar la adaptación y conducir a problemas emocionales, sociales o escolares, que se deben intentar prevenir mediante intervenciones tempranas psiocológicas, familiares o sociales. CONCLUSIONES: Los profesionales de la sanidad deben estar preparados para atender las necesidades de los hermanos de los pacientes en cuidados paliativos, así como para apoyar y aconsejar a los padres para que observen sus sentimientos y cubran sus necesidades

BACKGROUND: The diagnosis of a life-limiting pathology in a child causes a great impact for the entire family and especially for siblings. OBJECTIVE: This text aims to explore several aspects in the siblings of pediatric patients in palliative care. METHOD: Elaboration of a meta-synthesis of literature texts related to aspects of the siblings of children with a life-limiting pathology. RESULTS: The experience a child's illness may make in his or her siblings may cause various feelings, both positive and negative, which should be considered normal and do not mean that they are having difficulties. They may feel fear and concern about the child's illness and the possibility of his/her death, as well as pain and suffering. But they may also have feelings of isolation, loneliness, and jealousy and rivalry towards their sick sibling. As a result of a reorganization of their family and social life because of the disease, siblings can experiment emotional and physical losses, but also gains. In addition, siblings need care, as well as information about the pathology of the sick child, and to participate in their care. On the other hand, they need to develop their own and independent activities. Siblings are generally resilient and have protective factors for adaptive strategies and coping skills. On the other hand, there are risk factors that can limit adaptation and lead to emotional, social or school problems, which should be prevented by early psychological, family or social interventions. CONCLUSIONS: Health professionals must be prepared to meet the needs of siblings of pediatric palliative care patients to support and advise parents on how to observe their feelings and meet their needs

Situación nutricional en una población con parálisis cerebral moderada-grave: más allá del peso / Nutritional status of a population with moderate-severe cerebral palsy: Beyond the weight

INTRODUCCIÓN: La parálisis cerebral (PC) es la causa más frecuente de discapacidad motora en la edad pediátrica. El objetivo es estudiar la situación nutricional de los pacientes con PC controlados en una unidad de referencia, así como la relación entre la afectación neurológica y la nutricional. MATERIAL Y MÉTODOS: Estudio transversal, observacional, descriptivo y analítico en el que se han incluido pacientes con PC con grados III-IV-V (GMFCS) procedentes del área de influencia de un hospital pediátrico de referencia, con edades de 4-15años. Se ha realizado: encuesta (con recogida de datos generales, medicaciones y hábitos nutricionales), estudio antropométrico y bioimpedanciometría (BIA). RESULTADOS: El estudio incluyó 69 pacientes (reclutamiento 84,15%). Edad media 10,46 ± 0,43 años, el 50,7% mujeres. Distribución según GMFCS: grado III (36,2%), grado IV (29%), grado V (34,8%). Según el peso para la talla: desnutrición moderada el 21,8% (grado V: 33,3%), desnutrición grave el 5,8% (grado V: 12,6%), sobrepeso/obesidad el 23,2% (grado III: 24%; grado IV: 35%). Nivel adecuado de masa magra para su talla: grado III (36%), grado IV (55%), grado V (16,7%). Exceso de grasa: grado III (36%), grado IV (40%), grado V (29,2%). Comparación de masa grasa: BIA 6,89 ± 0,64kg versus antropometría 5,56 ± 4,43 kg. CONCLUSIONES: En PC grado GMFCS V es frecuente el déficit de peso asociado a disminución de masa magra para su talla. Los pacientes con PC grados GMFCS III-IV presentan una prevalencia llamativa de sobrepeso/obesidad. La antropometría es una herramienta útil para la valoración nutricional en niños con PC, aunque los niveles de grasa tienden a infravalorarse

INTRODUCTION: Cerebral palsy (CP) is the most frequent cause of motor disability in the paediatric age. The aim of this article is the study of the nutritional status of patients with CP followed-up in a reference hospital, as well as the relationship between neurological and nutritional state. MATERIAL AND METHODS: A cross-sectional, observational, descriptive and analytical study was conducted on a sample consisting of 4-15 years old patients with CP with Gross Motor Function Classification System (GMFCS) grades III-IV-V, from a specialised paediatric hospital reference area. An interview (collection of general data, medications and nutritional habits), anthropometric study and bioimpedance (BIA) measurements were carried out. RESULTS: The study included 69 patients (recruitment 84.15%), with a mean age of 10.46 ± 0.43 years, and 50.7% females. The distribution according to GMFCS scale was: grade III (36.2%), gradeIV (29%), and grade V (34.8%). According to weight for height: moderate malnutrition 21.8% (grade V: 33.3%), severe malnutrition 5.8% (gradeV: 12.6%), overweight/obesity 23.2% (grade III: 24%, gradeIV: 35%). Adequate level of lean mass for height: gradeIII (36%), grade IV (55%), and gradeV (16.7%). Fat excess: gradeIII (36%), grade IV (40%), and gradeV (29.2%). Fat mass comparison: BIA 6.89 ± 0.64kg versus anthropometry 5.56 ± 4.43kg. CONCLUSIONS: In CP grade GMFCSV, the weight deficit associated with a decrease in lean body mass is common. Patients with CP grades GMFCSIII-IV have a significant prevalence of overweight/obesity. Anthropometry is a useful tool for nutritional assessment in children with CP, although fat levels could be underestimated

[Nutritional status of a population with moderate-severe cerebral palsy: Beyond the weight]. / Situación nutricional en una población con parálisis cerebral moderada-grave: más allá del peso.

INTRODUCTION: Cerebral palsy (CP) is the most frequent cause of motor disability in the paediatric age. The aim of this article is the study of the nutritional status of patients with CP followed-up in a reference hospital, as well as the relationship between neurological and nutritional state. MATERIAL AND METHODS: A cross-sectional, observational, descriptive and analytical study was conducted on a sample consisting of 4-15years old patients with CP with Gross Motor Function Classification System (GMFCS) gradesIII-IV-V, from a specialised paediatric hospital reference area. An interview (collection of general data, medications and nutritional habits), anthropometric study and bioimpedance (BIA) measurements were carried out. RESULTS: The study included 69 patients (recruitment 84.15%), with a mean age of 10.46±0.43years, and 50.7% females. The distribution according to GMFCS scale was: gradeIII (36.2%), gradeIV (29%), and gradeV (34.8%). According to weight for height: moderate malnutrition 21.8% (gradeV: 33.3%), severe malnutrition 5.8% (gradeV: 12.6%), overweight/obesity 23.2% (gradeIII: 24%, gradeIV: 35%). Adequate level of lean mass for height: gradeIII (36%), gradeIV (55%), and gradeV (16.7%). Fat excess: gradeIII (36%), gradeIV (40%), and gradeV (29.2%). Fat mass comparison: BIA 6.89±0.64kg versus anthropometry 5.56±4.43kg. CONCLUSIONS: In CP grade GMFCSV, the weight deficit associated with a decrease in lean body mass is common. Patients with CP grades GMFCSIII-IV have a significant prevalence of overweight/obesity. Anthropometry is a useful tool for nutritional assessment in children with CP, although fat levels could be underestimated.

Metahemoglobinemia en lactantes mayores de un año / Metahemoglobinemia in infants over one year

Antecedentes y objetivo: La metahemoglobinemia es un cuadro de intoxicación aguda típico de niños menores de un año. Se produce por un exceso de nitratos que producen la oxidación del hierro de la hemoglobina impidiendo su adecuada unión al oxígeno. Es más frecuente en lactantes debido a su inferior actividad enzimática. Pacientes: Dos casos de lactantes de 15 meses con cuadros de metahemoglobinemia tras ingesta de verduras, atípicos por la edad de los pacientes y por la severidad inicial en el primer caso, que llegó a simular un cuadro séptico. En ambos casos se logró la resolución del cuadro con adecuada oxigenoterapia. Conclusiones: Aunque la clínica más frecuente es cianosis asociada a dificultad respiratoria, la metahemoglobinemia puede presentarse con cuadros más severos y confusos y en mayores de un año. El tratamiento de elección es oxigenoterapia a altas concentraciones y azul de metileno como antídoto por vía intravenosa únicamente en casos seleccionados. La ingesta de vegetales es el principal causante de este cuadro, por lo que es importante dar la información adecuada a los padres sobre el consumo y la conservación de estos alimentos

Background and objectives: Methaemoglobinaemia is a typical acute intoxication disorder in children under one year old. It is produced by excess nitrates which induce the haemoglobin's iron oxidation, preventing its adequate binding to oxygen. It is more frequent in infants due to its lower enzymatic activity. Patients: Two cases of 15-month-old infants with methaemoglobinaemia after the intake of vegetables, atypical by the age of the patients and the initial severity in the first case that simulated a septic syndrome. Both cases evolved well with adequate oxygen therapy. Conclusions: Although the most frequent clinical manifestation is cyanosis associated with respiratory distress, methaemoglobinaemia can present with more severe and confusing symptoms. The main treatment is oxygen therapy at high concentrations and methylene blue as an intravenous antidote only in selected cases. The intake of vegetables is the main cause of this in infants, so it is important to give adequate information to parents about the consumption and preservation of these foods during the first year of life

Metahemoglobinemia in infants over one year. / Metahemoglobinemia en lactantes mayores de un año.

BACKGROUND AND OBJECTIVES: Methaemoglobinaemia is a typical acute intoxication disorder in children under one year old. It is produced by excess nitrates which induce the haemoglobin's iron oxidation, preventing its adequate binding to oxygen. It is more frequent in infants due to its lower enzymatic activity. PATIENTS: Two cases of 15-month-old infants with methaemoglobinaemia after the intake of vegetables, atypical by the age of the patients and the initial severity in the first case that simulated a septic syndrome. Both cases evolved well with adequate oxygen therapy. CONCLUSIONS: Although the most frequent clinical manifestation is cyanosis associated with respiratory distress, methaemoglobinaemia can present with more severe and confusing symptoms. The main treatment is oxygen therapy at high concentrations and methylene blue as an intravenous antidote only in selected cases. The intake of vegetables is the main cause of this in infants, so it is important to give adequate information to parents about the consumption and preservation of these foods during the first year of life.

Características de la infección por metapneumovirus humano, ¿es importante la edad? / Characteristics of human metapneumovirus infection, is it important the age?

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Enfermedad celíaca: ¿qué características tienen nuestros pacientes en el momento del diagnóstico? / Celiac disease: what characteristics do our patients have at the time of diagnosis?

Introducción: la enfermedad celíaca es una patología crónica que con frecuencia presenta los primeros síntomas en la edad pediátrica. En los últimos años ha aumentado el número de diagnósticos, a la vez que se ha reducido la edad a la que se realizan estos. Material y métodos: estudio descriptivo de los antecedentes y las características epidemiológicas, clínicas y diagnósticas de 102 pacientes controlados por enfermedad celíaca en un hospital de tercer nivel. Resultados: el 41,4% son varones y el 58,6% mujeres, la mayor parte de etnia caucásica (94,1%). El 9,8% tienen al menos un familiar de primer grado celíaco, y el 6,9% de segundo grado. La edad media al diagnóstico es 42,8 ± 35,9 meses. El 89,2% presentaban algún síntoma al diagnóstico, mientras en el 10,8% restante el diagnóstico se obtuvo en el cribado de celiaquía por presentar otra patología asociada. Síntomas más frecuentes: pérdida de peso (58%), diarrea (52%), hiporexia (40%), distensión abdominal (24%), alteración del carácter (15%), hábito malabsortivo (13%) y dolor abdominal (12%). Estudio serológico: el 95% presentó anticuerpos antitransglutaminasa positivos, el 85,2% antiendomisio positivos, el 88,4% antigliadina IgG positivos. Estudio del sistema de antígenos leucocitarios humanos (HLA): 97% DQ2, 2% DQ8. Se realizó biopsia duodenal al 62,8% (3% Marsh I, 5% Marsh II, 17% Marsh IIa, 17% Marsh IIIb, 58% Marsh IIIc). Conclusiones: el mayor conocimiento de la enfermedad celíaca podría haber influido en la baja edad media al diagnóstico en la muestra. La aplicación de los criterios diagnósticos de la ESPGHAN de 2012 ha permitido diagnosticar a un relevante número de pacientes sin realizar biopsia (AU)

Introduction: celiac disease is a chronic pathology that often presents the first symptoms in childhood. Diagnoses of celiac disease have increased in recent years, while the age of diagnosis has reduced. Methods: 102 patients with celiac disease controlled in a tertiary hospital. Descriptive study of personal history, epidemiology, symptoms and diagnosis. Results: 41.4% were male and 58.6% female, most of Caucasians (94.1%). 9.8% had at least one first-degree relative celiac, and 6.9% in second degree. The average age at diagnosis is 42.8±35.9 months. 89.2% had symptoms at the moment of diagnosis, while the remaining 10.8% was obtained in the diagnosis of celiac disease screening to present other associated pathology. Common symptoms: weight loss (58%), diarrhea (52%), lack of appetite (40%), abdominal distension (24%), alteration of the character (15%), malabsorptive habit (13%) and abdominal pain (12%). Serological study: 95% positive transglutaminase antibodies, 85.2% positive endomysial antibodies, 88.4% positive anti-gliadin IgG antibodies. HLA study: 97% DQ2, DQ8 2%. Duodenal biopsy was performed to 62.8% (3% Marsh I, 5% Marsh II, 17% IIa Marsh, 17% Marsh IIIb, 58% IIIc Marsh). Conclusions: Increased knowledge about celiac disease among general pediatricians may have influenced the low average age at diagnosis in our sample. The application of diagnostic criteria ESPGHAN 2012 have allowed a significant number diagnoses patients without performing a biopsy (AU)

[Hypogonadotropic hypogonadism in Klinefelter syndrome and hypothalamic-pituitary tumor]. / Hipogonadismo hipogonadotropo en paciente con síndrome de Klinefelter y tumor hipotálamo-hipofisario.

Klinefelter Syndrome is the most frequent cause of hypergonadotropic hypogonadism in men. A flat response at luteinizing hormone releasing hormone stimulation test could be the first sign of hypothalamic tumor in these patients. We report the case of a patient diagnosed by neonatal screening with Klinefelter Syndrome, 47 XXY, that at 17 years follow-up presents analytical modification of the response to luteinizing hormone releasing hormone stimulation test with suppressed luteinizing hormone and follicle-stimulating hormone values; lately he presents with headache and loss of left eye vision. A magnetic resonance imaging of the brain showed a mixed germ cell hypothalamus tumor, requiring surgery, chemotherapy and radiotherapy with optimal response.

Hipogonadismo hipogonadotropo en paciente con síndrome de Klinefelter y tumor hipotálamo-hipofisario / Hypogonadotropic hypogonadism in Klinefelter syndrome and hypothalamic-pituitary tumor

El síndrome de Klinefelter es la causa más frecuente de hipogonadismo hipergonadotropo en el varón. La supresión en la respuesta al estímulo con hormona liberadora de la hormona luteinizante en estos pacientes debe hacer sospechar como posible etiología una tumoración a nivel hipotalámico. Se presenta el caso de un paciente diagnosticado a los 4 meses con síndrome de Klinefelter mediante cribado neonatal, con cariotipo 47 XXY, en el que se realizan controles clínicos y analíticos seriados y se encuentran, a los 17 años, valores suprimidos de hormona luteinizante y hormona folículo estimulante. Inicia, posteriormente, cefalea y amaurosis de ojo izquierdo, y se encuentra, en una resonancia magnética cerebral, un tumor germinal mixto a nivel hipotalámico, que precisa tratamiento quirúrgico, quimioterapia y radioterapia, con respuesta favorable.

Klinefelter Syndrome is the most frequent cause of hypergonadotropic hypogonadism in men. A flat response at luteinizing hormone releasing hormone stimulation test could be the first sign of hypothalamic tumor in these patients. We report the case of a patient diagnosed by neonatal screening with Klinefelter Syndrome, 47 XXY, that at 17 years follow-up presents analytical modification of the response to luteinizing hormone releasing hormone stimulation test with suppressed luteinizing hormone and follicle-stimulating hormone values; lately he presents with headache and loss of left eye vision. A magnetic resonance imaging of the brain showed a mixed germ cell hypothalamus tumor, requiring surgery, chemotherapy and radiotherapy with optimal response.

Hipogonadismo hipogonadotropo en paciente con síndrome de Klinefelter y tumor hipotálamo-hipofisario / Hypogonadotropic hypogonadism in Klinefelter syndrome and hypothalamic-pituitary tumor

El síndrome de Klinefelter es la causa más frecuente de hipogonadismo hipergonadotropo en el varón. La supresión en la respuesta al estímulo con hormona liberadora de la hormona luteinizante en estos pacientes debe hacer sospechar como posible etiología una tumoración a nivel hipotalámico. Se presenta el caso de un paciente diagnosticado a los 4 meses con síndrome de Klinefelter mediante cribado neonatal, con cariotipo 47 XXY, en el que se realizan controles clínicos y analíticos seriados y se encuentran, a los 17 años, valores suprimidos de hormona luteinizante y hormona folículo estimulante. Inicia, posteriormente, cefalea y amaurosis de ojo izquierdo, y se encuentra, en una resonancia magnética cerebral, un tumor germinal mixto a nivel hipotalámico, que precisa tratamiento quirúrgico, quimioterapia y radioterapia, con respuesta favorable.(AU)

Klinefelter Syndrome is the most frequent cause of hypergonadotropic hypogonadism in men. A flat response at luteinizing hormone releasing hormone stimulation test could be the first sign of hypothalamic tumor in these patients. We report the case of a patient diagnosed by neonatal screening with Klinefelter Syndrome, 47 XXY, that at 17 years follow-up presents analytical modification of the response to luteinizing hormone releasing hormone stimulation test with suppressed luteinizing hormone and follicle-stimulating hormone values; lately he presents with headache and loss of left eye vision. A magnetic resonance imaging of the brain showed a mixed germ cell hypothalamus tumor, requiring surgery, chemotherapy and radiotherapy with optimal response.(AU)

Hipogonadismo hipogonadotropo en paciente con síndrome de Klinefelter y tumor hipotálamo-hipofisario / Hypogonadotropic hypogonadism in Klinefelter syndrome and hypothalamic-pituitary tumor

El síndrome de Klinefelter es la causa más frecuente de hipogonadismo hipergonadotropo en el varón. La supresión en la respuesta al estímulo con hormona liberadora de la hormona luteinizante en estos pacientes debe hacer sospechar como posible etiología una tumoración a nivel hipotalámico. Se presenta el caso de un paciente diagnosticado a los 4 meses con síndrome de Klinefelter mediante cribado neonatal, con cariotipo 47 XXY, en el que se realizan controles clínicos y analíticos seriados y se encuentran, a los 17 años, valores suprimidos de hormona luteinizante y hormona folículo estimulante. Inicia, posteriormente, cefalea y amaurosis de ojo izquierdo, y se encuentra, en una resonancia magnética cerebral, un tumor germinal mixto a nivel hipotalámico, que precisa tratamiento quirúrgico, quimioterapia y radioterapia, con respuesta favorable.(AU)

Klinefelter Syndrome is the most frequent cause of hypergonadotropic hypogonadism in men. A flat response at luteinizing hormone releasing hormone stimulation test could be the first sign of hypothalamic tumor in these patients. We report the case of a patient diagnosed by neonatal screening with Klinefelter Syndrome, 47 XXY, that at 17 years follow-up presents analytical modification of the response to luteinizing hormone releasing hormone stimulation test with suppressed luteinizing hormone and follicle-stimulating hormone values; lately he presents with headache and loss of left eye vision. A magnetic resonance imaging of the brain showed a mixed germ cell hypothalamus tumor, requiring surgery, chemotherapy and radiotherapy with optimal response.(AU)

Hipogonadismo hipogonadotropo en paciente con síndrome de Klinefelter y tumor hipotálamo-hipofisario. / [Hypogonadotropic hypogonadism in Klinefelter syndrome and hypothalamic-pituitary tumor].

Klinefelter Syndrome is the most frequent cause of hypergonadotropic hypogonadism in men. A flat response at luteinizing hormone releasing hormone stimulation test could be the first sign of hypothalamic tumor in these patients. We report the case of a patient diagnosed by neonatal screening with Klinefelter Syndrome, 47 XXY, that at 17 years follow-up presents analytical modification of the response to luteinizing hormone releasing hormone stimulation test with suppressed luteinizing hormone and follicle-stimulating hormone values; lately he presents with headache and loss of left eye vision. A magnetic resonance imaging of the brain showed a mixed germ cell hypothalamus tumor, requiring surgery, chemotherapy and radiotherapy with optimal response.