Acute gastric volvulus in an adult female with Pallister-Killian syndrome and adult-onset chronic Bochdalek hernia

Abstract

  Pallister-Killian syndrome (PKS), a sporadic congenital anomaly syndrome associated with intellectual disability, epilepsy, movement disorders, and multiple organ malformations such as diaphragmatic hernia, is caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Acute gastric volvulus is an uncommon but fatal gastrointestinal disorder often caused by abnormalities in the ligaments that support the stomach and can occur as a secondary condition to diaphragmatic hernia. We experienced a case of acute gastric volvulus in an adult patient with PKS and adult-onset chronic Bochdalek hernia. The patient was diagnosed with PKS at 11 years of age and has been institutionalized since she was 13 years old. The patient was diagnosed with a chronic Bochdalek diaphragmatic hernia at 33 years old. When the patient was 36 years old, she presented with a distended upper abdomen and was in hypovolemic shock. During the evaluation, the patient did not vomit, and we could not pass a nasogastric tube. The patient was diagnosed with gastric volvulus using radiography and abdominal plain computed tomography and was transferred to an emergency hospital 5 hours after detecting the change in her condition. Blood analysis performed at the emergency hospital revealed severe acidosis and hyperkalemia due to abdominal compartment syndrome caused by the gastric volvulus. Emergency exploratory laparotomy revealed that the stomach was necrotic ; upon decompressive incision of the dilated stomach, the patient developed ventricular fibrillation. An advanced cardiac life support protocol was attempted without resuscitation. Gastric volvulus should be taken into consideration in patients with congenital conditions, such as PKS, presenting with acute upper abdominal distention. Gastric volvulus is a surgical emergency that should be treated promptly. If a diaphragmatic hernia is detected in patients with congenital conditions associated with intellectual disability, elective surgery should be considered even if hernia-associated symptoms are not obvious.