It is challenging to establish a definitive diagnosis and initiate timely management for skip segment Hirschsprung's disease (SSHD). Herein, we report three cases of SSHD at our institution between December 2008 and March 2018. Patient #1 was misdiagnosed and underwent three successive operations within 2 years. Patient #2 and #3 were diagnosed timely based on previous experience. A segmental narrowing detected by barium enema may raise the possibility of SSHD. Laparoscopic-guided multipoint biopsy is regarded as a mini-invasive and purposeful way to take representative samples after locating the segmental narrowing intraoperatively and accurate the final diagnosis. The laparoscopic-assisted pull-through procedure with radical resection from the distal rectum to the most proximal margin of the diseased skip segment is safe and effective in treating patients with SSHD.Level of evidence: Level III.
Keywords: Hirschsprung’s disease; Segmental aganglionosis; Skip segment Hirschsprung’s disease; Zonal aganglionosis.