RESUMEN
Fundamento. La hiperamoniemia origina múltiples alteraciones,principalmente en el sistema nervioso central.Si el fallo hepático no es su causa, deberán investigarseotras etiologías menos frecuentes intentandollegar a un diagnóstico definitivo.Caso clínico. Presentamos el caso de un paciente de16 años que ingresó por encefalopatía aguda e hiperamoniemia.Tras realización de analítica, TAC cerebral,ecografía y Doppler abdominal, se inició tratamientoempírico de hiperamoniemia secundaria a un errorinnato del ciclo de la urea. Se trató el edema cerebraly se tomaron medidas para eliminación del amoniacosin resultado favorable, falleciendo a los cuatro días delingreso.Conclusiones. El complejo manejo de la hiperamoniemiay la alta morbi-mortalidad que conlleva requiere unmanejo multidisciplinar. La instauración de tratamientoprecoz e identificación de la causa son claves para mejorarlos resultados(AU)
Background. Hyperammonemia causes several alterations,mainly in the central nervous system. If hepaticfailure is not its etiology, other less frequent causesmust be investigated in the search for a definitive diagnosis.Clinical case. We report the case of a 16 year old patientadmitted for acute encephalopathy and hyperammonemia.After analysis, brain CT, ultrasound and abdominalDoppler, we began empirical treatment of hyperammoniemiasecondary to disorders of the urea cycle. Wetreated the brain edema and eliminated ammonia butwe did not obtain favourable results and the patientdied four days later.Conclusions. The complex management of hyperammonemiaand the high morbidity and mortality involvedrequire a multidisciplinary approach. Only earlytreatment and identification of the hyperammonemia`setiology can avoid high morbidity and mortality in thesepatients(AU)
Asunto(s)
Humanos , Masculino , Adolescente , Hiperamonemia/complicaciones , Encefalopatías Metabólicas/diagnóstico , Errores Innatos del Metabolismo/complicaciones , Urea/metabolismoRESUMEN
BACKGROUND: Hyperammonemia causes several alterations, mainly in the central nervous system. If hepatic failure is not its etiology, other less frequent causes must be investigated in the search for a definitive diagnosis. CLINICAL CASE: We report the case of a 16 year old patient admitted for acute encephalopathy and hyperammonemia. After analysis, brain CT, ultrasound and abdominal Doppler, we began empirical treatment of hyperammonemia secondary to disorders of the urea cycle. We treated the brain edema and eliminated ammonia but we did not obtain favourable results and the patient died four days later. CONCLUSIONS: The complex management of hyperammonemia and the high morbidity and mortality involved require a multidisciplinary approach. Only early treatment and identification of the hyperammonemia's etiology can avoid high morbidity and mortality in these patients.