Recurrent aborted sudden cardiac death with seizures and rhabdomyolysis due to bulimia-induced hypokalemia: Report of one case / Muerte súbita abortada recurrente con convulsiones y rabdomiolisis causada por hipokalemia: Informe de una paciente con bulimia

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.

Neurofibromatosis type I and anti-phospholipid antibody syndrome: Report of one case / Neurofibromatosis tipo I y síndrome antifosfolípidos: Informe de un caso

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.

Severe Hyponatraemia under Carbamazepine for Secondary Prophylaxis of Post-Traumatic Epilepsy.

Aims: Among the antiepileptic drugs (AEDs) applied for secondary prophylaxis of posttraumatic epilepsy (PTE), carbamazepine (CBZ) may cause severe side effects and worsen traumatic brain injury (TBI). Presentation of Case: Two days after a bicycle accident causing severe TBI, a 23yo female developed a questionable seizure and received CBZ. Since then she required substitution of sodium. Six days after the accident she was extubated. Serum sodium was 123mmol/l. One day after transfer to the general ward, she was found comatose with a serum sodium of 114mmol/l. Cerebral CT showed diffuse cerebral edema. Electroencephalography did not record paroxysmal activity. After replacement of CBZ by levetiracetam, her condition markedly improved with a favourable outcome. Discussion and Conclusion: CBZ was made responsible for severe hyponatraemia in the presented case after exclusion of all other possible causes. Hyponatraemia may trigger the recurrence of cerebral edema after TBI. Hyponatraemia from CBZ may favourably respond to slow substitution of sodium with physiologic saline. CBZ for secondary prophylaxis of PTE may cause hyponatraemia, cerebral edema, and deterioration of pre-existing TBI. Replacement of CBZ by levetiracetame may resolve the condition. CBZ should be used with caution for secondary prophylaxis of PTE in TBI.

Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin / Síndrome de Down asociado a deficiencia de lectina de unión a manosa, deficiencia de IgG, vasculitis y mutación de la protrombina: Informe de un caso

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.