RESUMEN
Recurrent vomiting due to bulimia associated with abuse of furosemide and laxatives causing severe hypokalemia may result in recurrent aborted sudden cardiac death (SCD) and seizures. We report a 25-year-old female with a history of bulimia associated with abuse of furosemide and laxatives since the age of 15 years, migraine since puberty, renal abscesses at age 20 y, and rhabdomyolysis of unknown cause at age 24 y. She experienced aborted SCD due to severe hypokalemia with symptomatic seizures at 21 and 25 years of age. Bulimia patients additionally taking laxatives or furosemide are at particular risk of SCD and rhabdomyolysis and require periodic determination of electrolytes, potassium substitution, and adequate psychiatric therapy and surveillance.
Asunto(s)
Bulimia/complicaciones , Muerte Súbita Cardíaca/etiología , Hipopotasemia/etiología , Rabdomiólisis/etiología , Convulsiones/etiología , Diuréticos/efectos adversos , Femenino , Furosemida/efectos adversos , Humanos , Adulto JovenRESUMEN
Recurrent vomiting due to bulimia associated with abuse of furosemide and laxatives causing severe hypokalemia may result in recurrent aborted sudden cardiac death (SCD) and seizures. We report a 25-year-old female with a history of bulimia associated with abuse of furosemide and laxatives since the age of 15 years, migraine since puberty, renal abscesses at age 20 y, and rhabdomyolysis of unknown cause at age 24 y. She experienced aborted SCD due to severe hypokalemia with symptomatic seizures at 21 and 25 years of age. Bulimia patients additionally taking laxatives or furosemide are at particular risk of SCD and rhabdomyolysis and require periodic determination of electrolytes, potassium substitution, and adequate psychiatric therapy and surveillance.
Los vómitos recurrentes debidos a bulimia, asociados a abuso de furosemida y laxantes que causan hipokalemia severa, pueden llevar a muerte súbita abortada y convulsiones. Informamos una mujer de 25 años con una historia de bulimia asociada a abuso de furosemida y laxantes desde los 15 años, migrañas desde la pubertad, abscesos renales a los 20 años y rabdomiolisis de causa desconocida a los 24 años. La paciente tuvo dos episodios de muerte súbita abortada con convulsiones a los 21 y 25 años, debido a hipokalemia severa. Los pacientes con bulimia y abuso de furosemida y laxantes tienen un riesgo mayor de tener muerte súbita y rabdomiolisis, requieren de controles periódicos de electrolitos y tratamiento psiquiátrico.
Asunto(s)
Femenino , Humanos , Adulto Joven , Bulimia/complicaciones , Muerte Súbita Cardíaca/etiología , Hipopotasemia/etiología , Rabdomiólisis/etiología , Convulsiones/etiología , Diuréticos/efectos adversos , Furosemida/efectos adversosRESUMEN
Neurofibromatosis type I (NF1) has been only rarely reported in association with anti-phospholipid syndrome (APS). We report a 38 year-old female with NF1, who developed a cervix carcinoma at the age of 30 years and was successfully treated with conization, without requiring chemotherapy or radiation. She experienced two miscarriages prior to the diagnosis of the carcinoma. When she was 38 years old, an APS was diagnosed based on repeatedly positive lupus anticoagulant tests. The patient continued to smoke and using oral contraceptives. At 38 years of age she had a myocardial infarction, despite the use of oral anticoagulation. She required coronary stenting. Aspirin and clopidrogel were indicated thereafter.
Es inusual la asociación entre neurofibromatosis tipo I (NF1) y síndrome antifosfolípidos (APS). Presentamos una paciente mujer de 38 años con un NF1 que desarrolló un cáncer cervicouterino a los 30 años y que fue tratada exitosamente con una conización, sin requerir quimioterapia o radiación. La paciente tuvo dos abortos espontáneos antes del diagnóstico del carcinoma. A los 38 años, se le diagnosticó un APS, basado en pruebas de anticoagulante lúpico que resultaron positivas en repetidas oportunidades. La paciente continuó fumando y usando contraceptivos orales y, a pesar de estar con anticoagulantes orales, tuvo un infarto agudo de miocardio a los 38 años. Se colocó un stent coronario y se indicó aspirina y clopidogrel.
Asunto(s)
Adulto , Femenino , Humanos , Síndrome Antifosfolípido/complicaciones , Neurofibromatosis 1/complicaciones , Síndrome Antifosfolípido/clasificación , Síndrome Antifosfolípido/diagnóstico , Infarto del Miocardio/complicaciones , Neurofibromatosis 1/diagnóstico , Factores de RiesgoRESUMEN
Neurofibromatosis type I (NF1) has been only rarely reported in association with anti-phospholipid syndrome (APS). We report a 38 year-old female with NF1, who developed a cervix carcinoma at the age of 30 years and was successfully treated with conization, without requiring chemotherapy or radiation. She experienced two miscarriages prior to the diagnosis of the carcinoma. When she was 38 years old, an APS was diagnosed based on repeatedly positive lupus anticoagulant tests. The patient continued to smoke and using oral contraceptives. At 38 years of age she had a myocardial infarction, despite the use of oral anticoagulation. She required coronary stenting. Aspirin and clopidogrel were indicated thereafter.
Asunto(s)
Síndrome Antifosfolípido/complicaciones , Neurofibromatosis 1/complicaciones , Adulto , Síndrome Antifosfolípido/clasificación , Síndrome Antifosfolípido/diagnóstico , Femenino , Humanos , Infarto del Miocardio/complicaciones , Neurofibromatosis 1/diagnóstico , Factores de RiesgoRESUMEN
PURPOSE: To assess the relationship between the presence of pets in homes of epilepsy patients and the occurrence of sudden unexpected death in epilepsy (SUDEP). METHODS: Parents or relatives of SUDEP patients collected over a ten-year period (2000-2009) in a large epilepsy unit were asked if the patient lived together with any domestic pet at the time of death or not. Patients who did not experience SUDEP served as controls. RESULTS AND CONCLUSIONS: Eleven out of the 1092 included patients (1%) experienced SUDEP, all with refractory symptomatic epilepsy, but none of them had pets in their homes at the time of death. In contrast, the frequency of pet-ownership in the control group (n=1081) was 61%. According to previous studies there are some indications that human health is directly related to companionship with animals in a way that domestic animals prevent illness and facilitate recovery of patients. Companion animals can buffer reactivity against acute stress, diminish stress perception and improve physical health. These factors may reduce cardiac arrhythmias and seizure frequency, factors related to SUDEP. Companion animals may have a positive effect on well-being, thus improving epilepsy outcome.
Asunto(s)
Muerte Súbita/etiología , Epilepsia/complicaciones , Epilepsia/psicología , Mascotas , Adolescente , Animales , Niño , Preescolar , Epilepsia/mortalidad , Femenino , Humanos , MasculinoRESUMEN
The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reported. We report a 30 year-old female with Down-syndrome associated with MBL-deficiency with the genotype LXA/HYD, IgG-deficiency, recurrent uro-genital infections, cutaneous vasculitis, G20.210A prothrombin mutation, deep venous thrombosis, and pulmonary embolism. MBL-deficiency in combination with IgG deficiency might have favored the development of recurrent uro-genital infections. Immunodeficiency might be also involved in the pathogenesis of cutaneous vasculitis. Deep venous thrombosis and pulmonary embolism were attributed to the genetically determined prothrombotic state and intake of oral contraceptives.
Asunto(s)
Síndrome de Down/complicaciones , Deficiencia de IgG , Lectina de Unión a Manosa/deficiencia , Protrombina/genética , Vasculitis/etiología , Adulto , Femenino , HumanosRESUMEN
The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reponed. We repon a 30 year-old female with Down-syndrome associated with MBL-deficiency with the genotype LXA/HYD, IgG-deficiency, recurrent uro-genital infections, cutaneous vasculitis, G20.210A prothrombin mutation, deep venous thrombosis, and pulmonary embolism. MBL-deficiency in combination with IgG deficiency might have favored the development of recurrent uro-genital infections. Immunodeficiency might be also involved in the pathogenesis of cutaneous vasculitis. Deep venous thrombosis and pulmonary embolism were attributed to the genetically determined prothrombotic state and intake of oral contraceptives.
La asociación de síndrome de Down con deficiencia de lectina de unión a manosa, infecciones recurrentes y vasculitis no ha sido informada. Presentamos una mujer de 30 años de edad con síndrome de Down asociado a deficiencia de lectina de unión a mañosa, con el genotipo LXA/HYD, deficiencia de IgG, infecciones urogenitales recurrentes, vasculitis cutánea, mutación de protrombina G20.210A, trombosis venosa profunda y embolia pulmonar. La deficiencia de lectina de unión a manosa combinada con la deficiencia de IgG puede haber favorecido las infecciones urogenitales recurrentes. La inmunodeficiencia puede también tener relación con la patogenia de la vasculitis cutánea. La trombosis venosa profunda y la embolia pulmonar pueden deberse al estado protrombótico derivado de la mutación de protrombina y el uso de contraceptivos orales.