Hepatocellular carcinoma in a case of adult-onset type II citrullinemia.
نویسندگان
چکیده
A 40-year-old woman was admitted with altered consciousness and hyperammonemia after she had delivered her first baby. DNA analysis of the citrin gene and enzymatic assay of argininosuccinate synthetase in the liver led to a diagnosis of adult-onset type II citrullinemia (CTLN2). She was also found to have hepatocellular carcinoma (HCC) and underwent palliative surgery consisting of partial liver section of the HCC. Delivery may be a trigger for the development of CTLN2, while certain pathologic conditions associated with citrin gene abnormality are likely to induce hepatocellular carcinoma in patients with this disorder.
منابع مشابه
Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia
Adult-onset type II citrullinemia (CTLN2) is a disorder caused by an inborn error of metabolism affecting the liver. CTLN2 is an autosomal recessive disorder characterized by recurrent encephalopathy with hyperammonemia due to highly elevated plasma levels of citrulline and ammonia, caused by a deficiency of argininosuccinate synthetase in the liver. A small number of patients have undergone li...
متن کاملSudden development of adult-onset type II citrullinemia after total gastrectomy: a case report
BACKGROUND Adult-onset type II citurullinemia is an autosomal recessive disorder characterized by recurrent encephalopathy with hyperammonemia resulting from high plasma citrulline and ammonium levels. This report describes a rare case of adult-onset type II citurullinemia that occurred in a patient who only had the heterozygote mutation, and had never presented with any symptoms before surgery...
متن کاملAnesthetic experience of an adult male with citrullinemia type II: a case report
BACKGROUND Citrullinemia type II is an autosomal recessive urea cycle disorder and a subtype of citrin deficiency. However, the management of recurrent hyperammonemia with neurologic symptoms in patients with citrullinemia type II is quite different from the management of other types of urea cycle disorders. In pats with citrullinemia type II, regional anesthesia might be a good choice for the ...
متن کاملMRI of adult-onset type II citrullinemia.
bilateral temporo-occipital hyperintensity on MRI (Fig. 1A, B). Thereafter, she acutely developed consciousness disturbance, showing elevation of plasma levels of ammonia, citrulline and arginine, and extensive brain edema (Fig. 1C, D). The liver biopsy revealed a selective decrease of argininosuccinate synthetase, leading to the diagnosis of adult-onset type II citrullinemia (CTLN2). Two month...
متن کاملNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
Citrin deficiency is an autosomal recessive disorder caused by mutation in the SLC25AJ3 gene. It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestatic caused by citrin deficiency (NICCD). NICCD is characterized by neonatal/infantile-onset cholestatic hepatitis syndrome associated with multiple amino acidemia and hypergalactosemia. NICCD is sel...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Internal medicine
دوره 42 10 شماره
صفحات -
تاریخ انتشار 2003