RESUMO
OBJECTIVE: Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia. MATERIALS & METHODS: The patients who were diagnosed as methylmalonic acidemia in the Neurology Department of Mofid Children's Hospital in Tehran, Iran, between 2002 and 2012 were included in our study. The disorder was confirmed by clinical findings, neuroimaging findings, and neurometabolic and genetic assessment in reference laboratory in Germany. We assessed the age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 20 patients with methylmalonic acidemia. RESULTS: Eighty percent of the patients were offspring of consanguineous marriages. Half of the patients had Failure to thrive (FTT) due to anorexia; 85% had history of developmental delay or regression, and 20% had refractory seizure, which all of them were controlled. The patients with methylmalonic acidemia were followed for approximately 5 years and the follow-up showed that the patients with early diagnosis had a more favorable clinical response in growth index, refractory seizure, anorexia, and neurodevelopmental delay. Neuroimaging findings included brain atrophy, basal ganglia involvement (often in putamen), and periventricular leukomalacia. CONCLUSION: According to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs.
RESUMO
OBJECTIVE: Toxic poisoning with methadone is common in children in Iran. Our study was carried out due to the changing pattern of methadone poisoning in recent years and increasing methadone toxicity. MATERIALS & METHODS: In this descriptive-sectional study, all of the methadone poisoned children younger than 12 years who were admitted to the Loghman Hakim Hospital in 2012, were assessed. Clinical symptoms and signs, para-clinical findings, and treatment were evaluated. RESULTS: In this study, 16 boys and 15 girls who had been poisoned by methadone were enrolled. The mean age of patients was 55 months. All patients had been poisoned randomly or due to parent's mistakes. The mean time of symptoms onset after methadone consumption was 1 hour and 30 Min, indicating a relatively long time after onset of symptoms. Clinical findings were drowsiness (75%), miotic pupil (68 %), vomiting (61%), rapid shallow breathing (57%) and apnea (40%). In paraclinical tests, respiratory acidosis (69%) and leukocytosis (55.2%) were seen. The most important finding was increase in distance of QT in ECG (23.8%). The mean time of treatment with naloxone infusion was 51 hours. Three percent of patients had a return of symptoms after discontinuation of methadone. In patients with apnea, a longer course of treatment was required, and this difference was significant. Also, 17% of patients with apnea had aspiration pneumonia, which was statistically significant. CONCLUSION: We suggest long time treatment with naloxone and considering the probability of return of symptoms after discontinuation of methadone.
