ABSTRACT
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)
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Tuberous Sclerosis/diagnosis , Epilepsy , Rhabdomyoma , Macular Pigment , Epileptic Syndromes , Everolimus/therapeutic use , Neurology , Nervous System Diseases , Tuberous Sclerosis/epidemiology , Tuberous Sclerosis/genetics , Tuberous Sclerosis/pathology , Tuberous Sclerosis/therapyABSTRACT
Introdução: A hipomelanose macular progressiva (HMP) se caracteriza por máculas hipopigmentadas no tórax, abdômen e região lombar. É frequentemente mal diagnosticada e tem etiologia desconhecida. Recentemente foi descoberta fl uorescência vermelha nas lesões, o que sugere a presença de porfi rina, produzida pelo Propionibacterium acnes. Objetivo: Avaliar a efi cácia da Minociclina 100mg/dia no tratamento da hipomelanose macular progressiva. Material e métodos: Foram incluídos pacientes maiores de 16 anos, com história mínima de três meses, sem alergias a derivados de tetraciclina e sem antibioticoterapia prévia por 90 dias. Foram realizadas fotografi as antes e após 30, 60, 90, 120 dias de tratamento. Resultados: Dos 19 pacientes incluídos, 11 completaram o estudo. Destes, em todos houve recuperação da cor nas áreas afetadas. O sucesso terapêutico pôde ser constatado em todos os pacientes incluídos no estudo, por um período mínimo de sete e um máximo de 11 meses após o fim do tratamento, dependendo do tempo de seguimento de cada paciente. Conclusão: Minociclina 100mg/dia por três meses foi efi caz isoladamente no tratamento da HMP, confi rmando o provável papel do P. acnes como agente etiológico da doença.
Introduction: Progressive Macular Hypomelanosis (PMH) is characterized by hypopigmented maculae on the thorax, abdomen, and lumbar region. It is often misdiagnosed, and its etiology is unknown. Recently, lesions suggestive of porphyria, produced by Propionibacterium acnes, were discovered by red fl uorescence of the lesions. Objective: To evaluate the effi cacy of Minocycline, 100 mg/day, in the treatment of Progressive Macular Hypomelanosis. Material and methods: Patients older than 16 years with at least a three-month history, without allergies to tetracycline derivatives, and without a history of treatment with antibiotics for 90 days before the study, were included. Pictures were taken before beginning treatment and after 30, 60, 90, and 120 days and after this whenever possible. Results: Out of 19 patients, 11 completed the study. All of them showed recovery of the color in the affected areas. Treatment success could be demonstrated for a minimum of seven months and a maximum of 11 months after treatment. Conclusion: The isolated use of minocycline, 100mg/day for three months, was effective in the treatment of PMH, confi rming the probable role of P. acnes as the etiological agent.
