Login / Signup

A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma.

Shimon Eric JacobsLaura TiusabaElizaveta BokovaTamador Al-ShamailehTeresa Lynn RussellEmily C RutanHarutyun HaroyanYong WangChristina FengAndrea BadilloMarc A Levitt
Published in: European journal of pediatric surgery reports (2022)
We present a rare case of a 2-year-old male patient referred for primary evaluation of constipation and ultimately treatment of Hirschsprung disease (HSCR) whose preoperative workup incidentally revealed a posterior paraspinal mass. Following the biopsy of the mass, the patient exhibited hypoventilation and hypoxia requiring a delayed extubation, raising suspicion for congenital central hypoventilation syndrome (CCHS). We focus on the known history of associations between HSCR and CCHS, in addition to recently found genetic mutations in paired-like homeobox 2B that link HSCR, CCHS, and neuroblastoma.
Keyphrases
  • case report
  • rare case
  • positive airway pressure
  • endothelial cells
  • single cell
  • gene expression
  • genome wide
  • copy number
  • sleep apnea
  • replacement therapy
  • clinical evaluation
  • abdominal pain