Haddad syndrome novel association with BRAF mutation

Abstract

This is a report of a 36 week male infant who suffered abdominal distension and difficulty opening bowels within first few days of life and showed a pattern of hypoventilation and apnea associated with sleep. His diagnostic studies confirmed the diagnosis of congenital central hypoventilation syndrome CCHS (PHOX2B mutation) and Hirschsprung's disease and later found a further mutation of BRAF oncogene. This describes a novel association between these mutations and the shared qualities of tumorigenesis between BRAF and PHOX2B.

Keywords: BRAF; Haddad syndrome; Hirschsprung’s; PHOX2B; congenital central hypoventilation syndrome.