RESUMO
Chronic renal failure is a common complication of methylmalonic acidaemia (MMA). It is usually managed with haemodialysis and renal transplantation. We report the use of continuous cycling peritoneal dialysis (CCPD) for 20 months in a paediatric patient with chronic renal failure due to MMA. This procedure resulted in the elimination of 950 micromol methylmalonate (MM) per day and a fall in the plasma MM concentration from 3.9 to 0.74 mmol/l. As a result of this treatment, the frequency at which this patient was hospitalised was markedly reduced prior to a successful renal transplantation.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/terapia , Falência Renal Crônica/terapia , Ácido Metilmalônico/metabolismo , Diálise Peritoneal , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Humanos , Lactente , Falência Renal Crônica/metabolismo , Transplante de Rim , MasculinoRESUMO
Neuroimaging after a first unprovoked seizure may show significant abnormalities. In our study, 32% of all children with a first apparent unprovoked seizure had an abnormal CT scan result. Most of these were ring-enhancing lesions of cysticercal or tubercular origin.
