Síndrome de pseudotumor cerebri en la población pediátrica: características clínicas, tratamiento y pronóstico / Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis

Introducción El síndrome de pseudotumor cerebri (SPTC) en pacientes prepuberales presenta características que lo diferencian respecto a su presentación en la etapa pospuberal. Nuestro objetivo es describir las características de los pacientes diagnosticados de SPTC pediátrico en nuestro centro y compararlas en función de su estado puberal. Pacientes y métodos Se incluyeron a los pacientes diagnosticados de SPTC en un hospital de tercer nivel entre los años 2006 y 2019 con edades comprendidas entre uno y 18 años que cumplieran los criterios diagnósticos actualizados del SPTC. Se clasificaron en función de su estado puberal y peso corporal. Posteriormente, se analizaron los datos de las punciones lumbares, estudios de neuroimagen, valoraciones oftalmológicas, así como el régimen terapéutico recibido a lo largo de su seguimiento. Resultados Se recogieron 28 pacientes, 22 prepuberales y seis pospuberales, con edad media de 9,04 ± 2,86 años. El 83,3% de los pacientes pospuberales eran varones presentando sobrepeso/obesidad en el 66,7%. Eran varones el 27% de los pacientes prepuberales, de ellos asociaban sobrepeso el 31,8%. La sintomatología más frecuente fue cefalea (89,9%) y visión borrosa (42,9%). Todos los pacientes presentaron papiledema; un 21,4% de los casos presentaron parálisis del VI par. Se identificó un posible desencadenante en un 28,6%. El 19% presentaron recurrencia clínica, siendo todos ellos prepuberales. La resolución clínica completa se produjo en el 55,6% de los pacientes. Conclusión Pacientes con SPTC presentan menor prevalencia de obesidad en la etapa prepuberal, junto con un mayor porcentaje de etiologías secundarias y tasa de recurrencia que los pacientes pospuberales. (AU)

Introduction Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status. Patients and methods We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up. Results We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients. Conclusion Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients. (AU)

Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis.

INTRODUCTION: Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status. PATIENTS AND METHODS: We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up. RESULTS: We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients. CONCLUSION: Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured. METHODOLOGY: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes. RESULTS: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended. CONCLUSIONS: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA.

Experience in neuromuscular diseases in children and adolescents and their comorbidities in a tertiary hospital.

INTRODUCTION: Neuromuscular diseases include a large group of heterogeneous and rare pathologies that affect different components of the motor unit. It is essential to optimize resources to know the prevalence of comorbidities in the most frequent groups to establish an early multidisciplinary approach in a specialized setting. PATIENTS AND METHODS: Retrospective descriptive study of pediatric and adolescent patients with neuromuscular diseases (NMDs). The Inclusion criteria were NMDs patients with motor neuron involvement divided into three groups, depending on the affected component of the motor unit. Group I: involvement of the motor neuron; Group II: peripheral neuropathies; Group III: myopathies. Demographic variables, association with comorbidities, need for respiratory support, and rehabilitative treatment were collected in each group. RESULTS: Ninety-six patients who met the inclusion criteria were studied. In group I, when compared to the other two groups, a higher incidence of scoliosis (68.3%, p = 0.011), deformity of the rib cage (31.3%, p = 0.0001), chronic respiratory insufficiency (62.5%, p = 0.001) and bronchial aspiration (12.5%, p = 0.03) was detected. In this group, 50%of the patients required non-invasive mechanical ventilation (p = 0.0001). The in-hospital requirement for respiratory physiotherapy was higher in group I (75%, p = 0.001). We observed a higher incidence of scoliosis in Group III compared to Group II. CONCLUSIONS: Neuromuscular diseases with motor neuron involvement present more comorbidities and require an early approach after diagnosis to improve prognosis.

Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis. / Síndrome de pseudotumor cerebri en la población pediátrica: características clínicas, tratamiento y pronóstico.

INTRODUCTION: Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status. PATIENTS AND METHODS: We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up. RESULTS: We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients. CONCLUSION: Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.

[Multiple cranial neuropathy: a case report of three paediatric patients]. / Neuropatia craneal multiple: descripcion de tres pacientes pediatricos.

TITLE: Neuropatia craneal multiple: descripcion de tres pacientes pediatricos.

[Hereditary primary microcephaly type 5. Not everything is Zika virus]. / Microcefalia primaria hereditaria de tipo 5. No todo es virus del Zika.

TITLE: Microcefalia primaria hereditaria de tipo 5. No todo es virus del Zika.

Sarcoidosis. Comienzo como pseudotumor orbitario / Sarcoidosis. Debut as orbital pseudotumour

CASO CLÍNICO: Paciente mujer de 78 años remitida para estudio de pseudotumor orbitario izquierdo de 17 días de evolución. Observamos proptosis, dolor sin limitación de los movimientos oculares, edema periorbitario y ptosis palpebral, clínica compatible con pseudotumor orbitario. La resonancia magnética orbitaria evidencia una masa adyacente al globo ocular ocupando la vertiente superoexterna y aumento de partes blandas a nivel de la glándula lagrimal. El estudio anatomopatológico de una lesión palpebral demuestra la presencia de granulomas no caseificantes. DISCUSIÓN: Se realiza el diagnóstico de sarcoidosis orbitaria definitiva. El tratamiento oral con corticoides y metotrexato logra el control de la enfermedad

CASE REPORT: 78 year-old female patient being investigated for a left orbital pseudotumour of 17 days onset. She had proptosis, pain, with no limitation of eye movements, periorbital oedema, and upper eyelid ptosis, compatible with an orbital pseudotumour. The MRI showed an upper outer left orbital mass adjacent to the side of eyeball and an increase in soft tissue at the level of lacrimal gland. The histopathology study of an eyelid lesion demonstrated the presence of non-caseating granulomas. DISCUSSION: A definitive diagnosis of orbital sarcoidosis was made. Oral treatment with corticosteroids and methotrexate achieved gradual control of the disease

Sarcoidosis. Debut as orbital pseudotumour.

CASE REPORT: 78 year-old female patient being investigated for a left orbital pseudotumour of 17 days onset. She had proptosis, pain, with no limitation of eye movements, periorbital oedema, and upper eyelid ptosis, compatible with an orbital pseudotumour. The MRI showed an upper outer left orbital mass adjacent to the side of eyeball and an increase in soft tissue at the level of lacrimal gland. The histopathology study of an eyelid lesion demonstrated the presence of non-caseating granulomas. DISCUSSION: A definitive diagnosis of orbital sarcoidosis was made. Oral treatment with corticosteroids and methotrexate achieved gradual control of the disease.

El esquema de biopsia transrectal puede predecir la gradación histológica incorrecta del cáncer de próstata / Transrectal biopsy scheme can predict incorrect histological grading in prostate cancer

Objetivo: Identificar los factores por los que un sumatorio de Gleason (SG) < 7 en la biopsia pase a ser ≥ 7 en la pieza quirúrgica. Material y métodos: Se estudiaron 185 pacientes operados por cáncer de próstata comparando el SG de las biopsias con el de las piezas quirúrgicas. Se calcularon la sensibilidad, especificidad y los valores predictivos del SG de la biopsia. La concordancia de la biopsia y la intervención quirúrgica para establecer SG < 7 y ≥ 7 fue estimada con el estadístico Kappa de Cohen. Se analizaron la edad, los antecedentes familiares de cáncer prostático, el antígeno prostático específico total (PSAt), el tacto transrectal, la estructura y el volumen prostáticos, y el número de cilindros de la biopsia (esquema de biopsia) utilizando una regresión logística multivariante. Resultados: La biopsia tuvo una alta sensibilidad (98%) y una baja especificidad (49%) para los SG ≤ 6; y una baja sensibilidad (35, 26%) y una alta especificidad (93, 99%) para los SG de 7 y ≥ 7, respectivamente. El índice Kappa de los SG fue de 0,43 (IC del 95%: 30-56%). El esquema de biopsia fue el único predictor del desacuerdo. Del resto de variables, solo el PSAt mostró una asociación significativa discreta. Tomando como referencia el esquema con < 7 cilindros, no hallamos diferencia con 8-9 cilindros, pero sí con 10-11, y ≥ 12 cilindros, con una razón de prevalencia de 0,138 (IC 95%: 0,030-0,513) y de 0,277 (IC 95%: 0,091-0,806), respectivamente. Conclusión: El SG de la biopsia depende del esquema. Este factor tiene que ser considerado a la hora de elegir una opción terapéutica en aquellos pacientes con un grado tumoral bajo en la biopsia (AU)

Objective: To identify factors that might explain why a prostate with a Gleason score (GS) <7 in the biopsy specimen can turn out to have a GS ≥7 in the surgical specimen.Material and methods: We compared the GS of biopsy specimens with the GS of surgical specimens in 185 patients who underwent surgery for prostate cancer. We calculated the sensitivity, specificity, and predictive values for the GS of the biopsy specimens. We used Cohen’s kappa to determine the degree of concordance between a GS of <7 and ≥7 for the biopsy specimen and the surgical specimen. Age, a family history of prostate cancer, total prostate-specific antigen (tPSA), digital rectal examination, prostate structure and volume, and the number of biopsy cores (biopsy scheme) were analyzed using multivariable logistic regression. Results: Histological study of biopsy specimens yielded high sensitivity (98%) but low specificity (49%) for GS ≤6 and low sensitivity (35, 26%) and high specificity (93, 99%) for GS=7 and GS ≥7, respectively. Cohen’s kappa for the GS from the biopsy and surgical specimens was 0.43 (95% CI=30-56%). The biopsy scheme was the only predictor of discordance in the GS between the two techniques. Among the other variables included in the model, only tPSA showed a slightly significant association. Taking a scheme with less than 7 cores as a reference, we found no difference with 8 to 9 cores but we did find a difference with 10 to 11 cores and with 12 or more cores, with a prevalence ratio of 0.138 (95% CI=0.030-0.513) and 0.277 (95% CI=0.091-0.806), respectively. Conclusion: The GS of the biopsy depends on the scheme. This factor must be taken into account when choosing a treatment option in patients with low tumor grade in biopsy specimens (AU)

[Transrectal biopsy scheme can predict incorrect histological grading in prostate cancer]. / El esquema de biopsia transrectal puede predecir la gradación histológica incorrecta del cáncer de próstata.

OBJECTIVE: To identify factors that might explain why a prostate with a Gleason score (GS) <7 in the biopsy specimen can turn out to have a GS ≥7 in the surgical specimen. MATERIAL AND METHODS: We compared the GS of biopsy specimens with the GS of surgical specimens in 185 patients who underwent surgery for prostate cancer. We calculated the sensitivity, specificity, and predictive values for the GS of the biopsy specimens. We used Cohen's kappa to determine the degree of concordance between a GS of <7 and ≥7 for the biopsy specimen and the surgical specimen. Age, a family history of prostate cancer, total prostate-specific antigen (tPSA), digital rectal examination, prostate structure and volume, and the number of biopsy cores (biopsy scheme) were analyzed using multivariable logistic regression. RESULTS: Histological study of biopsy specimens yielded high sensitivity (98%) but low specificity (49%) for GS ≤6 and low sensitivity (35, 26%) and high specificity (93, 99%) for GS=7 and GS ≥7, respectively. Cohen's kappa for the GS from the biopsy and surgical specimens was 0.43 (95% CI=30-56%). The biopsy scheme was the only predictor of discordance in the GS between the two techniques. Among the other variables included in the model, only tPSA showed a slightly significant association. Taking a scheme with less than 7 cores as a reference, we found no difference with 8 to 9 cores but we did find a difference with 10 to 11 cores and with 12 or more cores, with a prevalence ratio of 0.138 (95% CI=0.030-0.513) and 0.277 (95% CI=0.091-0.806), respectively. CONCLUSION: The GS of the biopsy depends on the scheme. This factor must be taken into account when choosing a treatment option in patients with low tumor grade in biopsy specimens.

[Neurological complications in patients receiving solid organ transplants]. / Complicaciones neurológicas en trasplantados de órgano sólido.

INTRODUCTION: Neurological complications (NC) are a significant cause of morbidity and mortality in paediatric patients receiving solid organ transplants. Our aim was to describe the experience of our hospital with NC in paediatric patients receiving heart, lung and liver transplants. PATIENTS AND METHODS: A retrospective study was conducted on 140 paediatric patients who received a solid organ transplant during the period 2000-2011. RESULTS: A total of 23 paediatric solid organ transplant recipients (16.4% of cases), with a median age of 6 years, had NC. The symptoms were, in order of frequency: acute symptomatic seizures (12 patients); acute encephalopathy (11 patients); neuromuscular weakness (4 children), tremor (4 children), headache (2 children), neuropathic pain (2 children), and visual disturbances (2 children). The aetiologies of NC were: the neurotoxicity of the immunosuppressive drugs (12 patients), post-hypoxic-ischaemic encephalopathy (6 patients), infections (2 cases), mechanical compression of peripheral nerve during surgery (2 cases), and a metabolic complication (1 case). The five patients who met the criteria of posterior reversible encephalopathy syndrome had a favourable outcome. Seven patients died, four of them due to hypoxic-ischaemic encephalopathy. CONCLUSIONS: NC are common in paediatric patients receiving heart, liver, lung, and renal transplants, with acute symptomatic seizures and acute encephalopathy being the most common clinical signs. No differences were found in the NC with the different types of transplants. Neurotoxicity of the immunosuppressive drugs and hypoxic-ischaemic encephalopathy were the main causes of NC, having different management and outcomes. The prognosis was favourable in most of the patients, except for those who had moderate or severe post-hypoxic-ischaemic damage.

Colestasis neonatal: experiencia de 5 años en un hospital de tercer nivel / Neonatal cholestasis: a five-year experience in a tertiary hospital

Con el objetivo de conocer la evolución de los pacientes con colestasis neonatal respecto a las diferentes etiologías, se realizó un estudio descriptivo de 91 pacientes diagnosticados decolestasis neonatal en el Servicio de Pediatría del Hospital Universitario «Reina Sofía» entre los años 2002 y 2007. Los datos se extrajeron de las historias clínicas de los pacientes. En 2007 los niños fueron citados para una entrevista, en la que se realizaron una anamnesis, un examen físico y estudios analíticos. Los datos se registraron en fichas codificadas, que se analizaron con el programa SSPS. Se analizaron y describieron las etiologías encontradas, así como la evolución clínica de los pacientes. La evolución fue similar a la descrita en otras series, excepto en el caso de los niños trasplantados, que tuvieron una peor evolución, y en los casos de hepatitis neonatal, en que todos, excepto uno, presentaron una buena evolución, probablemente porque varios correspondían a hepatitis neonatales transitorias (AU)

A descriptive study was conducted to determine the disease course in patients with a history of neonatal cholestasis with regard to a number of conditions, and to compare it with that observed in children at other centers. The children enrolled had been diagnosed in the Department of Pediatrics of Reina Sofía University Hospital. Data were drawn from pre-coded cards, completed when the patients were seen for the first time, and from their clinical records. Appointments were arranged for the children in which their clinical case and the results of physical examination and lab testing were recorded in coded cards. Data were analyzed using the SSPS software package. Neonatal cholestasis was diagnosed in 91 children from 2002 to 2007. The etiologies, clinical course and laboratory testing are discussed and described. The disease course was similar to that described in other series, except in transplanted children, who had a poorer course, and in the cases of neonatal hepatitis, all of which had a favorable course, probably because several of these patients had transient neonatal hepatitis. Referral to tertiary care was typically late and should be especially addressed in continuing medical education activities (AU)

Rotura espontánea en bazo normal. A propósito de un caso / Spontaneous rupture in a normal spleen. A case report

Presentamos un paciente de 47 años con hemorragia digestiva alta que a las 48 horas del ingreso presentó un brusco dolor en flanco izquierdo sugestivo de cólico nefrítico. El estudio ecográfico reveló la presencia de un hematoma esplénico subcapsular y líquido libre intraperitoneal. La cirugía demostró rotura subcapsular del bazo y sangre libre intraperitoneal, siendo el bazo normal. El examen anatomopatológico confirmó que se trataba de un parénquima normal. Se destacan los hallazgos ecográficos de dicha entidad así como las causas conocidas relacionadas con la rotura espontánea del bazo (AU)