Haddad Syndrome: A Case Report in a Filipino Infant

  • April Grace Dion-Berboso
  • Maria Melanie Liberty B. Alcausin
Keywords: Haddad syndrome, congenital central hypoventilation syndrome, Hirschsprung’s disease, PHOX2B gene mutation, Filipino

Abstract

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 27repeat 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.

Published
2017-09-29
Section
Articles

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