Granulomatous infection of parotid gland and its subcutaneous tissue by Mycobacterium abscessus subspecies massiliense in a 3-year-old child.

Acid fast bacilli positive granulomatous infections by non-tubrerculous mycobacteria are often misdiagnosed as tuberculosis. We present a case of parotid gland infection and abscess in the subcutaneous tissue over the gland which was suspected as tuberculosis by ultrasonogram and histopathology examinations. Mycobacterium abscessus subspecies massiliense was isolated and identified.

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.

Background: Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and management of CAH patients. Here we report a novel 9-bp insertion in CYP21A2 gene and its structural and functional consequences on P450c21 protein by molecular modeling and molecular dynamics simulations methods.

Hirschsprung's disease associated with Ondine's curse.

This is a case report of a very rare combination of congenital aganglionosis of the intestine (Hirschsprung's disease) and congenital central hypoventilation syndrome-CCHS- (Ondine's curse). The combination is also called Haddad syndrome. In about 50% of the cases of CCHS there is associated Hirschsprung's disease.