RESUMEN
OBJECTIVES: To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease. METHODS: A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures. RESULTS: The mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients. CONCLUSION: The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.
Asunto(s)
Proteína 2 del Complejo de la Esclerosis Tuberosa , Esclerosis Tuberosa , Humanos , Esclerosis Tuberosa/epidemiología , Esclerosis Tuberosa/complicaciones , Arabia Saudita/epidemiología , Femenino , Masculino , Preescolar , Niño , Proteína 2 del Complejo de la Esclerosis Tuberosa/genética , Estudios Retrospectivos , Lactante , Adolescente , Proteína 1 del Complejo de la Esclerosis Tuberosa/genética , Proteínas Supresoras de Tumor/genética , Epilepsia/epidemiología , Epilepsia/etiología , PrevalenciaRESUMEN
Acute toxic methemoglobinemia is a rare and fatal condition with increased levels of oxidized hemoglobin. The clinical presentation of methemoglobinemia varies primarily based on total methemoglobin levels in the blood. Patients sometimes have significant cardiopulmonary compromise, but the majority are asymptomatic, with only cyanosis as the most prevalent sign. We report the case of a 41-day-old male who developed methemoglobinemia and persistent gastroenteritis after consumption of well water. In this case, we believe that the recurrence of acute methemoglobinemia episodes resulted from multifactorial reasons such as age at presentation, infection with nitrate-producing organisms, and consumption of nitrite-containing well water. The rationale for prophylactic therapy was implemented, aiming to prevent further episodes. This case report demonstrates the potential of prophylactic therapy as part of the management of infants with recurrent acute methemoglobinemia episodes.