Cerebrotendinous xanthomatosis with minimal change nephrotic syndrome.

Cerebrotendinous xanthomatosis

Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...

Cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism that results in systemic and neurologic abnormalities. Typically, the disease begins in infancy with chronic diarrhoea. Cataracts become evident in childhood or adolescence, and xanthomata develop in the second and third decades of life. Significant neurologic impairment also occurs; this...

Cerebrotendinous xanthomatosis

Cerebrotendinous Xanthomatosis (CTX; OMIM #213700) is a rare lipid storage metabolic disease with autosomal recessive inheritance. It is characterized by deficiency of mitochondrial sterol 27-hydroxylase (CYP27) which is a key enzyme in bile acid biosynthesis. The enzyme converts cholesterol into bile acids hence deficiency results in abnormal deposition of cholesterol and cholestenol in multip...

Intravenous methylprednisolone in minimal change nephrotic syndrome.

Minimal change nephrotic syndrome and cyclophosphamide

The term 'minimal change nephrotic syndrome' has become synonymous with the expression 'steroid responsive nephrotic syndrome', the latter term having the merit of focusing on the most important objective characteristic of the condition. Nevertheless, it is somewhat illogical to define this condition by a negative histological feature, which in the majority of cases remains a presumption inferr...