Haddad syndrome novel association with BRAF mutation

Article type: Case Report

Authors: Al Dakhoul, Suleiman^*

Affiliations: Neonatal Unit, Leeds General Infirmary, Leeds, UK

Correspondence: [*] 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: Suleiman.aldakhoul@nhs.net.

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

DOI: 10.3233/NPM-16170

Journal: Journal of Neonatal-Perinatal Medicine, vol. 10, no. 4, pp. 455-457, 2017