Hayashi Anri, Kumada Tomohiro, Furukawa Oki, Nozaki Fumihito, Hiejima Ikuko, Shibata Minoru, Kusunoki Takashi, Fujii Tatsuya
Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan.
Department of Pediatrics, Shiga Medical College, Otus, Japan.
Am J Med Genet A. 2015 Oct;167A(10):2447-50. doi: 10.1002/ajmg.a.37098. Epub 2015 Apr 5.
Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen.
