ABSTRACT
Long QT syndrome develops for a number of reasons. The number of non-antiarrhythmic drugs reported to induce QT interval prolongation with or without torsade de pointes continues to increase. Clarithromycin is a macrolide antibiotic being increasingly used for the treatment of atypical pneumonia. In this paper, we describe a patient who developed long QT prolongation syndrome after receiving clarithromycin for the treatment of atypical pneumonia.
ABSTRACT
Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. A novel DAX1 (NR0B1) gene mutation was detected in a Turkish newborn boy presenting with primary adrenal insufficiency. He was from a family with a history of unexplained death of three male siblings in the neonatal period. This report highlights the value of mutational analysis of the DAX1 gene for definitive diagnosis of AHC as well as for genetic counselling because this disorder shows an X-linked genetic pattern of transmission, providing the possibility of finding new cases even in presymptomatic individuals.