RESUMO
A 3-year child is discussed who presented with dyskinesia, large head size, developmental delay, and recurrent infections necessitating multiple hospital admissions. The diagnosis was not made at initial presentation or even after multiple hospital admissions. An organic acidemia was suspected, based on raised ammonia and lactate levels and metabolic acidosis and the diagnosis of glutaric aciduria Type 1 was established by finding markedly elevated levels of glutaric acid and its specific metabolites on urine organic acids analysis by gas chromatography-mass spectrometry, in the setting of specific clinical features. Further supporting evidence was provided by CT scan brain showing subdural hygroma along left cerebral hemisphere causing gyral flattening and widening of sylvian fissure
RESUMO
The aim of this study was to assess the frequency and types of thyroid dysfunction that develops during IFN-alpha therapy in patients of Chronic Hepatitis C. Case control study. Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology, Rawalpindi. The study was carried out on a total of 50 patients of chronic hepatitis C on recombinant IFN-alpha therapy. In addition 50 patients with chronic hepatitis C, not on any antiviral treatment, were included as controls. After informed consent, clinical history was obtained, physical examination was done and findings recorded on a pre-designed proforma. Blood sampling was done for thyroid profile at the beginning of interferon therapy, at 12 weeks and finally at 24 weeks. Thyroid dysfunction [TD] was observed in 14% [n=7] of the patients on antiviral therapy for CHC [n=50].Amongst these seven patients with TD, hypothyroidism was observed in 5 and hyerthyroidism in 2 patients. In contrast the frequency of thyroid dysfunction observed in control group [n=50] was 2%. The frequency of thyroid dysfunction in patients of chronic hepatitis C treated with interferon approaches 14%, with hypothyroidism being the more commonly observed pattern