Haddad Syndrome — more than don’t forget to breathe

Abstract

Congenital central hypoventilation syndrome (CCHS) and Hirschsprung’s disease (HD) belong to neurocristopathies — autonomic nervous system defects caused by abnormal neural crest cells migration. Their co-occurrence defines Haddad Syndrome (HS) associated also with increased risk of neural crest origin tumors, mainly neuroblastoma (NBL), and PHOX2B gene mutation. This case concerns a male newborn presenting respiratory failure minutes after birth. Due to sleep apnea and increasing hypercapnia, he required intubation. Genetic testing revealed an anomaly in PHOX2B gene. In subsequent days, the patient did not pass the meconium, which, based on the imaging tests and biopsy, raised a suspicion of HD. The boy was diagnosed with HS and additional diagnostic measures, including cancer screening, were ordered, owing to the syndrome’s characteristics. Awareness of such conditions enables clinicians to implement targeted management that may significantly improve long-term outcomes and quality of life for affected children.