Ocular impairment as the first and only manifestation of Bardet-Biedl syndrome: A case report.

Bardet-Biedl syndrome is a ciliopathy mainly associated with retinal dystrophy, renal dysfunction, post-axial polydactyly, obesity, cognitive deficit and hypogonadism. The symptoms associated with retinal dystrophy do not usually appear until the first decade of life, so the diagnosis is usually delayed. Ocular involvement may be the initial form of manifestation of this syndrome, it may even be the only one, so it should be taken into account in the differential diagnosis of amblyopia in a child who does not improve despite correct compliance with treatment. A case of low visual acuity in a pediatric patient is presented as an initial manifestation that leads to the diagnosis of Bardet-Biedl Syndrome, and which is also the only symptom that the patient presents to date, despite being a multisystem disease.

Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos / Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients

Introducción: El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo: Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos: Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados: Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones: Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista...(AU)

Introduction: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. Aim: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. Patients and methods: Descriptive, retrospective study of ≤ 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. Results: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. Conclusions: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.(AU)

[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients]. / Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.

INTRODUCTION: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. AIM: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. PATIENTS AND METHODS: Descriptive, retrospective study of = 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. RESULTS: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. CONCLUSIONS: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.

TITLE: Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.Introducción. El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo. Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos. Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados. Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones. Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista. Es necesario monitorizar estrechamente las anomalías epilépticas en el primer año de vida. El everolimús supone una alternativa de tratamiento en varias comorbilidades, pero su uso precoz (menor de 3 años) precisa más estudios.

Cefalea troclear primaria. Un dolor periorbitario con diagnóstico y tratamiento específicos / Primary trochlear headache. A periorbital pain with a specific diagnosis and treatment

La cefalea troclear primaria es una causa de cefalea periorbitaria descrita en adultos, poco conocida. Esta entidad puede dar lugar a un dolor muy invalidante. Además, puede asociarse a otro tipo de cefaleas, dificultando aún más su identificación. Para diagnosticar esta enfermedad es necesario que la exploración de la tróclea sea incorporada en la práctica clínica habitual del paciente con cefalea, lo cual permitirá poder establecer un tratamiento adecuado. Se presenta el caso de una paciente adolescente con diagnóstico de migraña que ingresó por un cuadro de cefalea invalidante secundaria a una cefalea troclear primaria

Primary trochlear headache is a little-known cause of periorbital headache described in adults. It can involve very disabling pain. In addition, it can be associated with other types of headaches, making them even more difficult to identify. To diagnose this pathology, it is necessary that the examination of the trochlea be incorporated into the usual clinical practice of the patient with headache, which will allow the establishment of an adequate treatment. The case is presented of an adolescent patient with a diagnosis of migraine, who was admitted with a disabling headache secondary to a primary trochlear headache

Primary trochlear headache. A periorbital pain with a specific diagnosis and treatment. / Cefalea troclear primaria. Un dolor periorbitario con diagnóstico y tratamiento específicos.

Primary trochlear headache is a little-known cause of periorbital headache described in adults. It can involve very disabling pain. In addition, it can be associated with other types of headaches, making them even more difficult to identify. To diagnose this pathology, it is necessary that the examination of the trochlea be incorporated into the usual clinical practice of the patient with headache, which will allow the establishment of an adequate treatment. The case is presented of an adolescent patient with a diagnosis of migraine, who was admitted with a disabling headache secondary to a primary trochlear headache.

Estudio de la relación entre miopía y personalidad / Study of the relationship between myopia and personality

Objetivo: Estudiar la correlación entre el error refractivo miópico y determinados rasgos de personalidad. Igualmente, se pretende determinar si existe correlación entre el grado de miopía y una mayor frecuencia de trastornos de la personalidad. Métodos: Estudio transversal observacional multicéntrico. La muestra la formaron 82 sujetos (26 hombres, 56 mujeres) mayores de 18 años con miopía (defecto esférico ≤ −0,5 D); 30 eran miopes magnos (<−6 D). Datos recogidos: edad y sexo, nivel de formación, resultado en el inventario de personalidad Neo PI-R, autorrefractometría, enfermedad miópica, tratamiento oftalmológico. Resultados: No se encontró correlación (rho de Spearman) estadísticamente significativa entre el defecto esférico y los rasgos de personalidad estudiados en el total de la muestra: neuroticismo (−0,057; p = 0,610), extraversión (−0,020; p = 0,857), apertura (−0,032; p = 0,774), amabilidad (−0,060; p = 0,592), responsabilidad (−0,034; p = 0,765). Al agruparlos por subgrupos de alta y baja significación (t-test), se halló una tendencia al aumento del defecto miópico con la extraversión, que resultó significativa (p = 0,002). Al comparar miopes magnos y el resto, se vio que existían diferencias significativas entre ambos grupos en cuanto a la enfermedad asociada (p < 0,001), el tratamiento recibido (p < 0,001) y el nivel de estudios ((p = 0,013), no así en las variables de personalidad: neuroticismo (p = 0,852), extraversión (p = 0,199), apertura (p = 0,560), amabilidad (p = 0,584), responsabilidad (p = 0,722). Conclusiones: Se encontró baja correlación entre miopía y personalidad. El grado de miopía no resultó diferente entre los grupos con diversos niveles de estudios. Los sujetos con enfermedad oftalmológica más grave asociada a la miopía presentaban puntuaciones más altas en neuroticismo, sin asociación significativa

OBJECTIVE: To study the correlation between the myopic refractive error and certain personality traits, and to determine whether there is a correlation between the degree of myopia and an increased frequency in personality disorders. METHODS: Cross-sectional observational multicenter study conducted on 82 subjects (26 men, 56 women) age over 18 years with myopia (spherical defect ≤ −0.5 D), with 30 subjects having high myopia (<−6 D). Data collected: age and gender, academic level, result in the Neo PI-R personality test, autorefractometry, myopic pathology, and ophthalmological treatment. RESULTS: Correlation (Spearman's) between the magnitude of the spherical defect and the 5 personality traits studied in the total sample was not statistically significant: neuroticism (−0.057; P=.610), extroversion (−0.020; P=.857), openness (−0.032; P=.774), kindness (−0.060; P=.592), and responsibility (−0.034;P=.765). By dividing them into subgroups of low and high significance (t-test), a significant (P=.002) upward trend of the myopic defect with increasing scores on extraversion was found. When comparing high myopic subjects to the non-high myopic ones, there were significant differences between the 2 groups in terms of the associated pathology (P=.001), received treatment (P=.001) and the level of studies (P=.013). There were no differences in the variables of personality: neuroticism (P=.852), extroversion (P=.199), openness (P=.560), kindness (P=.584), and responsibility (P=.722). CONCLUSIONS: A low correlation was found between myopia and personality. There was no difference in the degree of myopia between the groups with different education levels. Subjects with more severe ocular pathology associated with myopia had higher scores in neuroticism, without finding any significant association

Study of the relationship between myopia and personality.

OBJECTIVE: To study the correlation between the myopic refractive error and certain personality traits, and to determine whether there is a correlation between the degree of myopia and an increased frequency in personality disorders. METHODS: Cross-sectional observational multicenter study conducted on 82 subjects (26 men, 56 women) age over 18 years with myopia (spherical defect ≤ -0.5 D), with 30 subjects having high myopia (<-6 D). DATA COLLECTED: age and gender, academic level, result in the Neo PI-R personality test, autorefractometry, myopic pathology, and ophthalmological treatment. RESULTS: Correlation (Spearman's) between the magnitude of the spherical defect and the 5 personality traits studied in the total sample was not statistically significant: neuroticism (-0.057; P=.610), extroversion (-0.020; P=.857), openness (-0.032; P=.774), kindness (-0.060; P=.592), and responsibility (-0.034; P=.765). By dividing them into subgroups of low and high significance (t-test), a significant (P=.002) upward trend of the myopic defect with increasing scores on extraversion was found. When comparing high myopic subjects to the non-high myopic ones, there were significant differences between the 2 groups in terms of the associated pathology (P=.001), received treatment (P=.001) and the level of studies (P=.013). There were no differences in the variables of personality: neuroticism (P=.852), extroversion (P=.199), openness (P=.560), kindness (P=.584), and responsibility (P=.722). CONCLUSIONS: A low correlation was found between myopia and personality. There was no difference in the degree of myopia between the groups with different education levels. Subjects with more severe ocular pathology associated with myopia had higher scores in neuroticism, without finding any significant association.