April 13, 2008

Rett Syndrome and Gastric Perforation

By Shah, Malay B Bittner, James G IV; Edwards, Michael A

Rett Syndrome is associated with decreased peristaltic esophageal waves and gastric dysmotility, resulting in swallowing difficulties and gastric dilation. Rarely, gastric necrosis and perforation occur. Our case represents the third reported case of gastric necrosis and perforation associated with Rett Syndrome. A 31-year- old female after 11 hours of intermittent emesis and constant, sharp abdominal pain presented with evidence of multiorgan system failure including hypovolemic shock, metabolic acidosis, coagulopathy, and hepatorenal failure. A chest radiograph revealed intra-abdominal free air necessitating emergent laparotomy. During exploration, a severely dilated, thin-walled stomach with an area of necrosis and gross perforation was noted. Wedge resection of the necrotic tissue and primary closure were performed. Despite aggressive perioperative resuscitation and ventilation support, the patient died 3 hours postoperatively secondary to refractory shock and hypoxemia. Severe gastric dilation can occur with Rett Syndrome and may cause gastric necrosis and perforation. Prolonged elevated gastric pressures can decrease perfusion and may contribute to perforation. Timely decompression via percutaneous endoscopic or surgical gastrostomy could decrease the risk of perforation particularly when significant gastric distention is present. Consideration of gastric necrosis and perforation in patients with Rett Syndrome may lead to earlier intervention and decreased mortality. EMERGENT OPERATION FOR gastric pathology is frequently due to perforated ulcers. Acute onset of gastric necrosis and perforation is quite rare due to the vascular supply of the stomach. There have been a number of reports suggesting a correlation between acute gastric dilation and neurologically impaired individuals.1,2 In reviewing the literature, only two cases of gastric perforation in patients with Rett Syndrome (RS) have been reported.2,3 Rett Syndrome is a neurologically devastating disorder that affects approximately one in 10,000 females. These patients tend to exhibit air swallowing, autistic behaviors, stereotyped movements, seizures, breathing abnormalities, and mental retardation.4 Individuals with RS begin to regress in late infancy with delayed motor and speech skills. In childhood, these individuals develop increased muscle tone, contractures, abnormal autonomic function, and seizure disorders.5 Life expectancy for these individuals is approximately 15 to 20 years.5

We present the third reported case of gastric necrosis and perforation associated with RS. The purpose of this article is to reinforce the need to consider significant gastric complications early in patients with severe neurologic impairment, perhaps preventing lifethreatening complications.

Case Report

A 31-year-old white female with known RS presented to another institution 6 hours after acute onset of postprandial abdominal pain and vomiting. She was transferred to the Medical College of Georgia approximately 11 hours after onset of symptoms. On inspection, the patient appeared pale, and somnolent with increased respiratory effort. Further evaluation revealed cool clammy skin, tachycardia with decreased peripheral pulses, tachypnea, and marked abdominal distension. Respiratory distress and hypovolemic shock were recognized immediately and subsequent rapid orotracheal intubation, nasogastric decompression, and crystalloid resuscitation were initiated. After successful intubation, a supine chest radiograph confirmed orotracheal tube placement but also revealed intra- abdominal free air. Other initial laboratory tests demonstrated severe hypoxemia, anemia, metabolic acidosis, consumptive coagulopathy, thrombocytopenia, elevated liver enzymes, and acute renal failure.

The patient was taken emergently to the operating room for exploratory laparotomy. A copious amount of gastric contents were apparent upon entering the preperitoneal space. Further exploration revealed a severely dilated, thinwalled stomach with obvious anterior gastric wall necrosis and perforation. A rend in the proximal stomach along the lesser curve measured approximately 10 centimeters in length. Evaluation of the lesser sac and posterior gastric wall showed no evidence of necrosis or injury. A wedge resection of the necrotic and perforated stomach was performed using a GIA stapler (United States Surgical, Norwalk, CT), then closed using simple, interrupted 0 polypropylene sutures. The abdomen was packed in all quadrants and left open to prevent abdominal compartment syndrome in the face of ongoing resuscitation and bowel edema.

Despite aggressive perioperative fluid administration, attempts to maintain normothermia, and expeditious operative intervention, the patient failed to improve. She received high-dose vasopressors, active warming measures, and blood products as necessary, yet her condition progressed to multiorgan system failure. Ultimately, refractory hypotension, renal failure, and severe adult respiratory distress syndrome contributed to her death.


Rett Syndrome and associated gastric complications are uncommon. Published literature describing gastric perforation in patients with RS primarily consists of case reports. Although gastric dilation occurs in patients with RS, gastric necrosis and subsequent perforation are rare occurrences.2,3 RS patients diagnosed with chronic gastric dilation and no evidence of gastric wall necrosis may benefit from "prophylactic" percutaneous endoscopic or laparoscopic gastrostomy tube placement. Previous reports describe gastrostomy as a viable management option, allowing family members or caregivers to decompress the stomach periodically.6 However, there is little evidence addressing the optimal treatment of RS patients who present with necrosis and perforation.

Several associations between RS and gastric pathology may predispose patients to necrosis and perforation. Patients with RS experience abnormalities of swallowing, including decreased tongue mobility, reduced oropharyngeal clearance, and laryngeal penetration. Patients also exhibit diminished or absent primary and secondary peristaltic esophageal waves, gastric atony, or diminished gastric motility.7 Such related morbidities can contribute to gastric dilation and thinning of the gastric wall. The combination of gastric dilation and wall thinning may compromise gastric blood flow and increase the risk of perforation.

Gastric infarction and perforation rarely occur because of the vast blood supply to the stomach. Previous articles note decreased gastric intramural blood flow when gastric intralumenal pressures exceed 30 centimeters of water.8 Decreased flow can also result secondary to compression of the inferior vena cava, impeding return of blood to the heart. A combination of factors may compromise gastric blood flow sufficiently to cause ischemia, necrosis, and perforation as occurred in this case.

Our patient likely had long-standing and progressively worsening gastric dilation associated with her RS. She developed retching and abdominal pain after eating. Retching may have resulted in a gastric tear. Hyperventilation associated with abdominal pain may have furthermore contributed to worsening acute gastric dilation and progression to gastric ischemia. The exact mechanism for necrosis and perforation in our patient remains unclear. The combination of a thinned gastric wall and severe gastric dilation likely resulted in gastric ischemia, necrosis, and perforation.

Optimal surgical management for these patients is not clearly defined. On initial evaluation, the entire stomach appeared compromised, indicating the need for total gastrectomy. However, this management option was less than ideal in the presence of ongoing hypovolemic shock and multiorgan dysfunction. Instead a wedge resection of the grossly necrotic area was performed. This allowed for expedient control of the gastric spillage and resection of devitalized tissue in a hemodynamically unstable patient.

Early diagnosis and intervention is essential in successful management of these patients. There was clearly a delay in the presentation of this patient. The time period between initial symptoms and arrival to our institution was approximately 11 hours. On arrival, she was already in a state of shock, systemic inflammatory response, and multiorgan dysfunction, which likely contributed to her death. Despite aggressive resuscitation and early surgical intervention, her condition deteriorated rapidly. Earlier patient presentation and physician recognition of this complication may have resulted in a more timely intervention and perhaps changed the unfortunate outcome. We feel that a method to decrease the risk of this complication is early referral for percutaneous endoscopic or surgical gastrostomy tube placement.


We wish to acknowledge the Virtual Education and Surgical Simulation Laboratory as funded by the Department of Surgery, Medical College of Georgia.


1. Turan M, Sen M, Canbay E, et al. Gastric necrosis and perforation caused by acute gastric dilatation: Report of a case. Surg Today 2003;33:302-4.

2. Baldassarre E, Capuano G, Valenti G, et al. A case of massive gastric necrosis in a young girl with Rett Syndrome. Brain Dev 2006;28:49-51.

3. Nasu T. Recurrent Gastric Perforation in a Patient with Rett Syndrome. Tokyo: Shonika, 1997, pp 1433-6. 4. Percy AK. Rett Syndrome. Current status and new vistas. Neurol Clin 2002;20:1125- 41.

5. Nomura Y, Segawa M. Natural history of Rett Syndrome. J Child Neurol 2005;20:764-8.

6. Anzai Y, Ohya T. A case of effective gastrostomy for severe abdominal distension due to breathing dysfunction of Rett Syndrome: A treatment of autonomic disorder. Brain Dev 2001;23(Suppl 1):S240- 1.

7. Motil KJ, Schultz RJ, Browning K, et al. Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett Syndrome. J Pediatr Gastroenterol Nutr 1999;29:31-7.

8. Edlich RF, Borner JW, Kuphal J, et al. Gastric blood flow. Its distribution during gastric distension. Am J Surg 1970;120:35-7.


From the Virtual Education and Surgical Simulation Laboratory, Department of Surgery, Medical College of Georgia School of Medicine, Augusta, Georgia

Presented in poster format at the Southeastern Surgical Congress, Birmingham, Alabama, February 2008.

Address correspondence and reprint requests to Michael A. Edwards, M.D., Assistant Professor of Surgery Director, Virtual Education and Surgical Simulation Laboratory, Department of Surgery, Medical College of Georgia School of Medicine, 1120 15th Street, Augusta, Georgia 30912. E-mail: [email protected]

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