RESUMO
Tyrosinemia is a metabolic disorder which manifests as increased levels of tyrosine in the blood
Hereditary Tyrosinemia Type I is one of the many causes of Tyrosinemia. It is due to the deficiency of the enzyme fumaryl acetoacetate hydrolase which leads to the rise in the serum levels of fumaryl acetoacetate and presents with a variety of different signs and symptoms such as neurological disorders, Hepatic and renal insufficiency and corneal depositions. It can be managed by the timely use of medication and dietary plan and fatality can be avoided if the disease is picked up in its earlier stages. We report a case of a 2-month-old baby with signs, symptoms and lab diagnosis suggestive of hereditary tyrosinemia
The case is discussed along with the drawbacks in our setup such as genetic testing and special tests required for a timely diagnosis for most metabolic disorders including neonatal liver disease such as hereditary tyrosinemia
RESUMO
With the rising incidence of chronic liver disease caused by viral hepatitis, hepatocellular carcinoma is showing a corresponding rise worldwide. Surgery remains the mainstay of treatment, but patients unfit for surgery or liver transplantation form the bulk of those presenting with this disease. Palliative treatments are being used to treat those and radiological modalities form the mainstay of the treatment. Radiology plays a major role in the diagnosis, treatment and follow-up of hepatocellular carcinoma. Current radiological treatment modalities include percutaneous ethanol ablation, radiofrequency ablation and trans-arterial chemoembolization. This update highlights the recent advancements in the field and compares their relative merits and demerits