RESUMEN
AIM: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. METHODS: We retrospectively analyzed data from four metabolically and genetically confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (α-AASA) and pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI. RESULTS: Results showed that three patients had relatively good outcome (IQ 80-97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients. INTERPRETATION: We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage.
Asunto(s)
Edad de Inicio , Epilepsia/complicaciones , Discapacidad Intelectual/genética , Aldehído Deshidrogenasa/genética , Epilepsia/genética , Femenino , Genotipo , Humanos , Lactante , Discapacidad Intelectual/epidemiología , Inteligencia/genética , Imagen por Resonancia Magnética , Masculino , Mutación , Piridoxina/uso terapéutico , Estudios RetrospectivosRESUMEN
Seven cases of dichromate poisoning after the use of purgative solutions obtained from nyanga (traditional township healers) are reported. The patients all presented in established renal failure requiring dialysis, and all had abnormal liver function tests. One patient who took dichromate orally died from massive gastro-intestinal haemorrhage. Six patients took dichromate solutions as rectal enemas, 2 were left with impaired renal function and 1 required a permanent colostomy as a result of extensive peri-anal necrosis. The clinical presentation of acute renal failure, gastro-intestinal haemorrhage and hepatocellular dysfunction should alert the physician to the possibility of dichromate poisoning. The diagnosis, management and the role of dialysis in dichromate poisoning are reviewed.