Clinical features of children with Haddad syndrome: A single-center experience
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In brief
In brief
Retrospective study of 10 pediatric patients with Haddad syndrome demonstrates the dual challenge of managing congenital central hypoventilation and Hirschsprung disease. All patients carried PHOX2B mutations, with 90% requiring tracheostomy and variable colonic aganglionosis patterns. Long-term outcomes show developmental delays in 60% but 100% survival with multidisciplinary care.
Written by the GCMD Library team from the article.
Background/Purpose
Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment.
Methods
Medical records of patients diagnosed with HS from 2005 to 2016 were retrospectively reviewed. Demographic data including gestational age, birth weight and height, and paired-like homeobox 2b (PHOX2B) gene mutation were collected.
Results
Seven males and three females were identified (mean gestational age 39.76 ± 1.49 weeks, mean birth weight 3117.5 ± 288.9 g). PHOX2B gene mutation was identified in all patients. Immediate ventilation care after birth was required in five patients due to poor respiration. The current median age of the children is 5.4 years (range, 1.8–10.1). Tracheostomy was performed in nine patients. Eight patients required sleep ventilation and two patients, 24-h continuous ventilation support. Six patients showed rectosigmoid aganglionosis and four patients exhibited total colonic aganglionosis, of these one had aganglionosis extended to the distal small bowel. Soiling was observed in seven patients (5 with laparoscopy-assisted transanal endorectal pull-through and 2 with Duhamel procedure) and one patient showed grade 2 constipation with Duhamel procedure. Six patients had developmental delay. All patients are alive.
Conclusions
HS may require lifelong medical care. This study could be helpful to understand the clinical features of HS including associated abnormalities and disease progression. By assisting to understand the clinical features, we could provide better care for HS patients by achieving an earlier diagnosis and appropriate treatment.
Type of study
Prognosis study.
Level of evidence
Level IV.