Haddad Syndrome: A Case Report in a Filipino Infant

April Grace Dion-Berboso1 and Maria Melanie Liberty B. Alcausin1,2

1Department of Pediatrics, College of Medicine and
Philippine General Hospital, University of the Philippines Manila
2Institute of Human Genetics, National Institutes of Health,
University of the Philippines Manila

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS) occurs with Hirschsprung’s disease. It is extremely rare with only more than 60 cases reported in the worldwide literature. We report on a Filipino newborn male infant who presented with signs and symptoms of progressive abdominal enlargement, bowel obstruction, and recurrent hypoventilation. The diagnosis of Haddad syndrome was made clinically and confirmed by sequence analysis of the PHOX2B gene which showed a 27-repeat heterozygous expansion of the polyalanine-coding region. All CCHS patients require assisted ventilation especially during sleep to prevent lung atelectasis and other complications. An early diagnosis and confirmation by genetic testing is vital for proper management of affected patients.

Key Words: Haddad syndrome, congenital central hypoventilation syndrome, Hirschsprung’s disease, PHOX2B gene mutation, Filipino