Doctors describe a case of a 3-year-old boy who developed a rare stomach condition called Ménétrier’s disease, which caused severe swelling throughout his body. The disease was triggered by a common virus called cytomegalovirus (CMV). The boy experienced vomiting, tiredness, and puffiness in his face, legs, and other areas. Tests showed his body was losing important proteins through his stomach. After receiving supportive care including protein infusions, antibiotics, and a high-protein diet, the boy improved. This case shows that doctors should consider this rare disease when children develop sudden swelling and protein loss, especially if they have a CMV infection.

The Quick Take

  • What they studied: A single case of a young child who developed a rare stomach disease that caused his body to lose important proteins, leading to severe swelling
  • Who participated: One 3-year-old boy who was previously healthy before developing symptoms of vomiting, fatigue, and progressive swelling
  • Key finding: The child had Ménétrier’s disease caused by cytomegalovirus infection. Despite negative standard virus tests, doctors found the virus in stomach tissue samples, showing that regular testing can sometimes miss this infection
  • What it means for you: If a child develops sudden swelling and protein loss, doctors should consider this rare disease even if standard virus tests come back negative. Treatment with supportive care and antiviral medications can help, though this is a rare condition affecting very few children

The Research Details

This is a case report, which means doctors are describing what happened with one specific patient rather than studying many patients. The doctors carefully documented the child’s symptoms, test results, and treatment over time. They used multiple types of tests to diagnose the condition, including blood work, imaging (ultrasound), and a procedure called endoscopy where a camera looks inside the stomach. They also took a small tissue sample from the stomach to examine under a microscope.

The doctors tracked how the child responded to different treatments, including protein infusions, water pills, dietary changes, and antiviral medication. This detailed documentation helps other doctors recognize similar cases in the future.

Case reports are important for rare diseases because they help doctors learn about conditions that don’t happen often enough to study in large groups. By carefully describing what happened with this one child, doctors can help other doctors recognize the disease faster and treat it better. This is especially valuable for Ménétrier’s disease, which is very uncommon in children.

This is a single case report, which means it shows what happened with one child but cannot prove that the same thing will happen to other children. The strength of this report is that the doctors used multiple tests to confirm the diagnosis and carefully documented the child’s improvement. However, because it’s just one case, we cannot make broad conclusions about how common this disease is or how well the treatment works for all children. The finding that standard virus tests were negative but tissue samples showed the virus is particularly important and worth noting.

What the Results Show

The 3-year-old boy presented with vomiting, extreme tiredness, and progressive swelling in his face, limbs, and genital area. Blood tests revealed dangerously low levels of albumin (a key protein), at 2.3 g/dL, which is much lower than normal. He also had low total protein levels, low immune proteins, and high fat levels in his blood.

Imaging showed fluid buildup in his abdomen and swollen bowel loops. When doctors looked inside his stomach with a camera, they found the stomach lining was abnormally thick. A tissue sample confirmed Ménétrier’s disease and showed signs of cytomegalovirus infection, including viral particles visible under the microscope and positive staining for the virus.

Interestingly, standard tests for CMV (PCR and blood antibody tests) came back negative, but the virus was clearly present in the stomach tissue. This is an important finding because it shows that routine testing can sometimes miss this infection. After receiving supportive treatment with protein infusions, water pills, a high-protein diet, and antiviral medication, the child’s condition improved.

The blood work also showed elevated triglycerides (fats) and an increased number of lymphocytes (white blood cells), suggesting the body was fighting an infection. The presence of low immune proteins (hypogammaglobulinemia) raised questions about whether the child might have an underlying immune system problem. The combination of findings suggests this was a severe case of the disease, as most children with this condition recover with just supportive care.

Previous research has shown that Ménétrier’s disease in children is often associated with CMV infection and typically follows a self-limiting course, meaning it goes away on its own with time and supportive care. This case is consistent with that pattern but represents a more severe presentation. Most reported cases improve with supportive treatment alone, but this child required antiviral medication, suggesting that severe cases may benefit from additional treatment. The finding of negative standard virus tests despite clear evidence of CMV in tissue samples adds new information about how this virus can be detected.

This is a single case report involving one child, so we cannot determine how common this disease is or whether the same treatment will work for all children. We don’t know the long-term outcome for this child or whether he had any lasting effects. The case does not include information about how many other children with similar symptoms were seen during the same time period, so we cannot estimate how often this occurs. Additionally, the underlying reason why some children develop this disease while others don’t remains unclear.

The Bottom Line

For healthcare providers: Maintain high suspicion for Ménétrier’s disease in children presenting with acute-onset edema and low protein levels, even when standard CMV testing is negative. Consider tissue biopsy for definitive diagnosis. Supportive care is first-line treatment, with antiviral therapy considered for severe cases. For families: If your child develops unexplained swelling and fatigue, seek medical evaluation promptly. This is a rare condition, but early recognition and treatment can help.

Healthcare providers caring for children with unexplained swelling and protein loss should be aware of this condition. Parents of children with persistent vomiting, fatigue, and swelling should discuss this possibility with their doctors. This condition is extremely rare, so most children with swelling have other causes. However, awareness helps ensure correct diagnosis when it does occur.

In this case, the child showed improvement with treatment over the course of hospitalization and follow-up care. Most children with this disease recover within weeks to months with appropriate treatment. However, this is a rare condition, and recovery timelines may vary. Long-term follow-up is important to ensure complete recovery and to monitor for any underlying immune system issues.

Want to Apply This Research?

  • Track daily measurements of swelling in different body areas (face, legs, abdomen) using a simple scale (none, mild, moderate, severe) along with daily weight. This helps monitor whether treatment is working and provides useful information for doctors.
  • If diagnosed with this condition, users should track and maintain a high-protein diet as recommended by their doctor, log any new symptoms like vomiting or increased fatigue, and record medication adherence. Set reminders for follow-up appointments and lab work to monitor protein levels.
  • Establish a weekly check-in routine to photograph areas of swelling (for comparison), record weight trends, document dietary intake, and note any changes in energy levels or symptoms. Share this data with healthcare providers at appointments to guide treatment adjustments.

This case report describes one child’s experience with a rare disease and should not be used for self-diagnosis. Ménétrier’s disease is extremely uncommon in children. If your child has unexplained swelling, vomiting, or fatigue, consult with a pediatrician or pediatric gastroenterologist for proper evaluation. This information is educational and does not replace professional medical advice. Treatment decisions should always be made in consultation with qualified healthcare providers who can evaluate your child’s specific situation.