Affiliations: Neonatal Unit, Leeds General Infirmary, Leeds, UK
Address for correspondence: Suleiman Al Dakhoul, Neonatal Unit, Clarendon Wing, Leeds General Infirmary, Great George St, Leeds, LS1 3EX, UK. Tel.: +44 113 39 27165; E-mail: [email protected].
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: Haddad syndrome, congenital central hypoventilation syndrome, Hirschsprung’s, PHOX2B, BRAF