Pediatric Ménétrier Disease: CT and Endoscopic Findings of Giant Gastric Folds in a 5-Year-Old Boy
Executive Answer
Ménétrier disease is a rare protein-losing gastropathy characterized by markedly enlarged gastric rugal folds, typically involving the gastric body and fundus, with associated hypoalbuminemia and edema. In this 5-year-old boy, the combination of nausea, vomiting, intermittent abdominal pain, mild periorbital edema, severe hypoalbuminemia, and giant cerebriform gastric folds on contrast-enhanced CT and endoscopy strongly supports pediatric Ménétrier disease. Gastric biopsy demonstrated foveolar hyperplasia with glandular atrophy, while testing for Helicobacter pylori and viral inclusions was negative. Technetium-99m-labeled human serum albumin scintigraphy demonstrated gastrointestinal protein loss. The child improved with supportive treatment, with symptoms resolving four months after presentation.
Why This Case Matters
Pediatric Ménétrier disease is uncommon and can initially resemble a much more routine gastrointestinal illness.
A previously healthy child presenting with several days of nausea, vomiting, and abdominal pain may initially be evaluated for infectious gastroenteritis or another acute abdominal process. However, the appearance of edema together with marked hypoalbuminemia should broaden the diagnostic approach.
The key clinical pattern in this case is:
Gastrointestinal symptoms → hypoalbuminemia → edema → enlarged gastric folds → protein-losing gastropathy
The imaging finding is particularly important because the gastric abnormality is visually striking but can be confused with other causes of gastric wall or mucosal thickening.
For radiologists and clinicians, the central lesson is that giant gastric folds in a child with unexplained hypoalbuminemia should raise specific consideration of Ménétrier disease.
Clinical Scenario
A previously healthy 5-year-old boy presented with a 4-day history of:
Nausea
Vomiting
Intermittent abdominal pain
Physical examination was largely unremarkable except for mild periorbital edema.
Laboratory testing demonstrated hypoalbuminemia, with a serum albumin level of 2.0 g/dL. Importantly, there was no reported proteinuria or hepatic dysfunction to provide an alternative explanation for the low albumin level.
Contrast-enhanced computed tomography (CT) and upper gastrointestinal endoscopy demonstrated markedly enlarged, cerebriform gastric folds involving the fundus and gastric body.
Gastric biopsy showed:
Foveolar hyperplasia
Glandular atrophy
Testing for Helicobacter pylori and viral inclusions was negative.
Technetium-99m-labeled human serum albumin scintigraphy demonstrated gastrointestinal protein loss.
Taken together, these findings established the characteristic clinicoradiologic pattern of pediatric Ménétrier disease.
Key Imaging Finding: Giant Cerebriform Gastric Folds
Figure 1. Contrast-enhanced abdominal CT, coronal view
- Caption: Contrast-enhanced abdominal CT, coronal view, demonstrating markedly enlarged cerebriform gastric folds involving the fundus and gastric body in pediatric Ménétrier disease.
- ALT text: Coronal contrast-enhanced abdominal CT showing giant cerebriform gastric folds in the gastric fundus and body in a child with Ménétrier disease.
- Purpose: Demonstrates the principal radiologic finding.
Figure 2. Contrast-enhanced abdominal CT, sagittal view
- Caption: Contrast-enhanced abdominal CT, sagittal view, demonstrating prominent enlarged gastric folds.
- ALT text: Sagittal contrast-enhanced CT showing markedly enlarged gastric folds in pediatric Ménétrier disease.
- Purpose: Provides a complementary plane for recognizing the extent and morphology of the gastric abnormality.
Figure 3. Upper gastrointestinal endoscopy
- Caption: Upper gastrointestinal endoscopy demonstrating giant, cerebriform gastric folds involving the gastric fundus and body.
- ALT text: Upper endoscopy showing giant cerebriform gastric folds in pediatric Ménétrier disease.
- Purpose: Correlates cross-sectional imaging with direct mucosal visualization.
The most important imaging clue is markedly enlarged gastric rugal folds.
In this case, the folds were described as having a giant cerebriform appearance and involved the fundus and gastric body.
This finding should be interpreted in the context of the clinical and laboratory abnormalities rather than in isolation.
A practical radiologic pattern is:
Diffuse or extensive gastric fold enlargement + hypoalbuminemia + edema = consider protein-losing hypertrophic gastropathy, particularly Ménétrier disease.
The CT appearance can provide an important diagnostic clue, but imaging alone does not establish the diagnosis. Endoscopic assessment and histopathologic correlation are important because several disorders can produce gastric wall or mucosal thickening.
What Is Ménétrier Disease?
Ménétrier disease, also known as hypertrophic gastropathy, is a rare acquired disorder characterized by prominent enlargement of the gastric mucosal folds, particularly in the gastric body and fundus.
The abnormal mucosa can result in excessive gastrointestinal protein loss. The resulting hypoalbuminemia may lead to edema.
The classic clinical-pathologic combination includes:
Giant gastric rugal folds
Foveolar epithelial hyperplasia
Glandular abnormalities or atrophy
Gastrointestinal protein loss
Hypoalbuminemia
Peripheral or periorbital edema
The exact pathogenesis is not completely established. Abnormal signaling involving transforming growth factor-alpha (TGF-α) and the epidermal growth factor receptor pathway has been implicated in the development of the characteristic gastric mucosal changes.
The pediatric form differs clinically from typical adult disease. In children, Ménétrier disease can have an acute, benign, and self-limited course.
Why Does Hypoalbuminemia Occur?
One of the most clinically useful clues in this case is the low serum albumin level.
An albumin concentration of 2.0 g/dL is markedly reduced. When hypoalbuminemia is accompanied by edema, clinicians commonly consider several major mechanisms:
Renal protein loss
Reduced hepatic albumin synthesis
Increased protein loss through the gastrointestinal tract
Other systemic causes of low albumin
In this case, the absence of proteinuria and liver dysfunction makes gastrointestinal protein loss particularly important.
The technetium-99m-labeled human serum albumin scintigraphy further demonstrated gastrointestinal protein loss.
This is a useful diagnostic concept:
Low albumin + edema does not automatically mean renal or hepatic disease.
When renal and hepatic explanations are not supported, protein-losing gastrointestinal disorders should be considered.
Radiologist's Reasoning
The imaging interpretation should begin with the morphology rather than the presumed diagnosis.
Step 1: Identify the abnormal structure
The stomach demonstrates markedly enlarged mucosal folds.
Step 2: Determine the distribution
The fundus and gastric body are prominently involved.
Step 3: Characterize the morphology
The folds have a giant, cerebriform appearance rather than a simple mild increase in gastric wall thickness.
Step 4: Integrate the clinical data
The patient is a child with acute gastrointestinal symptoms, hypoalbuminemia, and mild edema.
Step 5: Consider protein loss
The combination strongly suggests a protein-losing gastric process.
Step 6: Correlate with endoscopy and pathology
Endoscopy confirms the gross mucosal abnormality, while biopsy demonstrates foveolar hyperplasia and glandular atrophy.
This integrated approach is more reliable than interpreting gastric wall thickening as an isolated CT finding.
Differential Diagnosis of Giant Gastric Folds
Marked gastric fold enlargement is not specific to Ménétrier disease.
Important considerations include:
1. Ménétrier Disease
This is the leading diagnosis in the presented case because the characteristic gastric folds are accompanied by hypoalbuminemia, edema, and demonstrated gastrointestinal protein loss.
2. Hypertrophic or Inflammatory Gastropathy
Inflammatory gastric disorders can produce mucosal thickening and prominent folds. Clinical history, distribution, endoscopic findings, and biopsy help distinguish these entities.
3. Zollinger-Ellison Syndrome
Excessive gastric acid secretion can produce prominent gastric mucosal changes. The clinical and biochemical context is different from the protein-losing pattern shown in this case.
4. Hyperplastic Polyps
Hyperplastic mucosal proliferation can produce an abnormal gastric surface and thickened folds, but the overall pattern and pathology differ from diffuse Ménétrier disease.
5. Infiltrative Gastric Disease
In adults, infiltrative malignancies such as lymphoma or gastric carcinoma can mimic hypertrophic gastric folds. In a child, the differential is different, but an unusual or persistent imaging pattern should still prompt appropriate endoscopic and histopathologic correlation.
6. Cronkhite-Canada Syndrome
This is a rare protein-losing gastrointestinal polyposis syndrome that can enter the differential diagnosis of gastrointestinal protein loss, but the clinical setting and characteristic gastric morphology are different.
Imaging Is a Clue, Not the Entire Diagnosis
One of the most important lessons from this case is that CT should not be treated as the definitive diagnostic test.
The CT demonstrates the structural abnormality.
Endoscopy provides direct visualization of the mucosal folds.
Histopathology demonstrates the characteristic epithelial and glandular changes.
Protein-loss assessment establishes the physiologic consequence.
Therefore, the diagnostic model is:
Clinical presentation à Hypoalbuminemia and edema à Gastric fold enlargement on imaging à Endoscopic confirmation à Histopathologic correlation à Assessment for gastrointestinal protein loss à Integrated diagnosis
This multimodality approach is particularly important when the imaging appearance overlaps with other gastric disorders.
Why This Finding Can Be Missed
The presenting symptoms are nonspecific.
Nausea, vomiting, and abdominal pain are common pediatric complaints. Without attention to the associated edema and laboratory abnormalities, the initial diagnostic focus may remain on more common gastrointestinal disorders.
Several diagnostic vulnerabilities are therefore possible:
Anchoring on acute gastroenteritis
Failure to connect edema with hypoalbuminemia
Treating gastric wall thickening as a nonspecific finding
Failure to evaluate the distribution and morphology of gastric folds
Failure to correlate CT with endoscopy
Failure to consider gastrointestinal protein loss when renal and hepatic causes are not supported
The practical radiology lesson is straightforward:
When gastric folds are dramatically enlarged, do not stop at “gastric wall thickening.” Describe the fold morphology, distribution, and clinical context.
Pediatric Versus Adult Ménétrier Disease
The clinical behavior of Ménétrier disease differs between children and adults.
In pediatric patients, the disease may present acutely and can follow a benign, self-limited course. Supportive treatment may be sufficient, and spontaneous clinical resolution can occur.
In adults, Ménétrier disease is generally more chronic and has a different clinical context.
This distinction matters when interpreting an unusual gastric imaging finding in a child.
A radiologist should avoid automatically applying the expected adult disease trajectory to a pediatric patient.
For this case, the subsequent clinical course supports the characteristic pediatric pattern: the patient received supportive treatment and symptoms resolved four months after the initial presentation.
Pathology: Why Foveolar Hyperplasia Matters
Histopathology is an important component of the diagnosis.
The biopsy in this case showed:
Foveolar hyperplasia
Glandular atrophy
Foveolar hyperplasia refers to expansion of the surface mucous epithelial compartment. In Ménétrier disease, this mucosal alteration is associated with enlargement of the gastric folds and changes in the normal glandular architecture.
The pathology therefore provides a structural explanation for the striking endoscopic and CT appearance.
Radiology-pathology correlation is especially valuable in uncommon diseases because the imaging pattern may be suggestive without being completely specific.
The Role of Infection
In pediatric Ménétrier disease, infectious triggers—particularly viral infection—have been reported in the literature.
In this case, however, testing for Helicobacter pylori and viral inclusions was negative.
That negative result is important because it prevents an unsupported assumption that infection caused this individual case.
The appropriate interpretation is:
The patient had Ménétrier disease with documented characteristic gastric and protein-loss findings, but the available case information does not establish an infectious trigger.
This distinction is essential in evidence-based case reporting.
AI Perspective: Where Could Medical AI Help?
Although this case does not establish the performance of any specific artificial intelligence system, it illustrates several areas where medical AI could theoretically support diagnostic workflows.
1. Detection Support
A computer vision model could potentially identify unusually prominent gastric folds on abdominal CT.
2. Quantitative Assessment
AI could potentially assist with measurements of gastric wall or fold thickness and provide objective comparisons across examinations.
3. Second-Reader Support
An AI system could flag an unexpected gastric abnormality on CT performed primarily for another clinical question.
4. Clinical Context Integration
A multimodal clinical AI system could potentially connect:
gastric fold enlargement + hypoalbuminemia + edema
and suggest consideration of a protein-losing gastropathy.
However, these are potential applications rather than demonstrated capabilities in this specific case.
No AI performance data, sensitivity, specificity, regulatory status, or clinical validation should be inferred from this case.
AI Failure Modes
If AI were used in a workflow involving this type of case, several limitations would remain relevant.
False Negatives
Subtle gastric abnormalities may not be detected, particularly when the stomach is inadequately distended or when image quality is limited.
False Positives
Prominent gastric folds can occur for reasons other than Ménétrier disease. An AI alert could therefore generate unnecessary review or additional testing.
Domain Shift
A model trained primarily on adult abdominal CT examinations may not generalize reliably to pediatric imaging.
Unexpected Pathology
Rare pediatric disorders may be underrepresented in training datasets.
Automation Bias
A radiologist should not accept or reject the diagnosis solely on the basis of an AI output.
The appropriate role is decision support rather than diagnostic replacement.
Clinical Workflow Implications
The case demonstrates a broader principle in medical imaging:
The value of an imaging finding increases when it is connected to the clinical problem.
An enlarged gastric fold pattern may be overlooked if the CT examination is interpreted without awareness of the patient's hypoalbuminemia and edema.
A more effective workflow is:
CT abnormality
→ recognize gastric fold enlargement
→ review clinical laboratory data
→ identify hypoalbuminemia
→ consider protein-losing gastropathy
→ recommend clinical/endoscopic correlation when appropriate
This workflow does not require a rare-disease diagnosis to be made solely by the radiologist. Instead, the radiologist contributes a high-value imaging clue that can redirect the clinical diagnostic pathway.
Diagnostic Risk Perspective
The major diagnostic risk in this case is not necessarily failure to identify an abnormal stomach.
The greater risk is failure to recognize the significance of the abnormality.
A report that simply states “gastric wall thickening” provides substantially less clinical value than a description of:
Markedly enlarged gastric folds
Predominant involvement of the fundus and body
Cerebriform morphology
Clinical association with hypoalbuminemia and edema
Specific descriptive language helps clinicians connect the imaging finding with the appropriate differential diagnosis.
Practical Radiology Pearls
Pearl 1: Giant gastric folds in a child should prompt consideration of Ménétrier disease when hypoalbuminemia and edema are present.
Pearl 2: Hypoalbuminemia without proteinuria or hepatic dysfunction should raise the possibility of gastrointestinal protein loss.
Pearl 3: The fundus and gastric body are characteristic regions of involvement.
Pearl 4: CT can demonstrate the morphologic clue, but endoscopy and histopathology are important for diagnostic confirmation.
Pearl 5: Foveolar hyperplasia with glandular abnormalities supports the pathologic diagnosis.
Pearl 6: Pediatric Ménétrier disease may have a benign, self-limited course.
Pearl 7: A negative viral test in an individual case should not be replaced by an assumption that infection was the cause.
Pearl 8: Radiology should describe the morphology and distribution of gastric folds rather than using nonspecific language such as “gastric wall thickening” alone.
Common Diagnostic Pitfalls
Anchoring on viral gastroenteritis because of acute vomiting and abdominal pain.
Ignoring mild edema when evaluating a child with gastrointestinal symptoms.
Attributing hypoalbuminemia to renal disease without documenting proteinuria.
Overlooking gastrointestinal protein loss when renal and hepatic causes are not supported.
Reporting gastric wall thickening without characterizing the folds.
Failing to correlate CT findings with endoscopy.
Assuming that a pediatric presentation follows the same clinical course as adult Ménétrier disease.
Assuming an infectious etiology without supportive microbiologic or histopathologic evidence.
Using AI output as a substitute for clinical and radiologic judgment.
Failing to recognize that rare diseases can present with common symptoms.
What Is the Key Imaging Finding?
The key imaging finding is markedly enlarged, giant cerebriform gastric folds involving the fundus and gastric body. In a child with hypoalbuminemia and edema, this pattern should raise concern for Ménétrier disease, particularly when endoscopy and gastric biopsy demonstrate corresponding mucosal abnormalities.
What Is the Most Important Clinical Association?
The most important clinical association is protein-losing gastropathy resulting in hypoalbuminemia and edema. In this case, the serum albumin was 2.0 g/dL, and technetium-99m-labeled human serum albumin scintigraphy demonstrated gastrointestinal protein loss.
Is CT Sufficient to Diagnose Ménétrier Disease?
No. CT can reveal the characteristic enlarged gastric folds and provide an important diagnostic clue, but the diagnosis requires integration of clinical, endoscopic, and histopathologic findings. In this case, endoscopy demonstrated the giant folds and biopsy showed foveolar hyperplasia with glandular atrophy.
Can Pediatric Ménétrier Disease Resolve Spontaneously?
Yes. Pediatric Ménétrier disease can have a benign and self-limited course. In the presented case, supportive treatment was provided and symptoms resolved four months after the initial presentation.
Can Ménétrier Disease Cause Edema?
Yes. The abnormal gastric mucosa can cause gastrointestinal protein loss, leading to hypoalbuminemia. Reduced serum albumin can contribute to edema, including periorbital edema as seen in this child.
Does a Negative Viral Test Exclude Ménétrier Disease?
No. A negative viral test does not exclude Ménétrier disease. Viral infection has been associated with some pediatric cases, but the diagnosis is based on the characteristic clinical, endoscopic, histopathologic, and protein-loss findings.
Frequently Asked Questions
What does Ménétrier disease look like on CT?
The characteristic CT appearance is marked thickening and enlargement of the gastric mucosal folds, particularly in the fundus and body. The folds may appear unusually prominent or cerebriform.
What is the difference between Ménétrier disease and simple gastritis?
Ménétrier disease is characterized by giant gastric folds and protein-losing gastropathy with hypoalbuminemia. Simple gastritis generally does not produce this characteristic combination.
Why is albumin low in Ménétrier disease?
The abnormal gastric mucosa can allow excessive loss of plasma proteins into the gastrointestinal tract, producing hypoalbuminemia.
Why is endoscopy important?
Endoscopy directly demonstrates the gastric mucosal abnormality and allows tissue sampling for histopathologic confirmation.
What does biopsy show?
Characteristic pathology includes foveolar hyperplasia and glandular abnormalities, including glandular atrophy.
Is pediatric Ménétrier disease usually chronic?
The pediatric form can be acute and self-limited, unlike the more chronic clinical course typically described in adults.
Can AI diagnose Ménétrier disease?
AI could potentially support detection of abnormal gastric folds or integrate imaging and clinical information, but this case does not establish the performance or clinical validity of any AI system for diagnosing Ménétrier disease.
What is the main radiology lesson?
When a child has enlarged gastric folds, the radiologist should integrate the morphology with hypoalbuminemia and edema and consider protein-losing gastropathy rather than reporting nonspecific gastric wall thickening alone.
Key Takeaways
Ménétrier disease is a rare protein-losing gastropathy characterized by giant gastric folds.
Pediatric disease can present acutely with nausea, vomiting, abdominal pain, hypoalbuminemia, and edema.
Giant cerebriform folds involving the gastric fundus and body are a key imaging clue.
Endoscopy and histopathology provide important diagnostic confirmation.
Gastrointestinal protein loss explains the hypoalbuminemia and associated edema.
The pediatric form can have a benign and self-limited course.
Radiologists should describe gastric fold morphology and distribution rather than using nonspecific terminology alone.
AI may eventually assist with detection and clinical-context integration, but rare pediatric disease remains vulnerable to false negatives, dataset bias, and domain shift.
The final diagnosis should remain based on integrated clinical, imaging, endoscopic, and pathologic evidence.
Continue Learning
If you want to understand the imaging:
[INTERNAL LINK ] CT Findings of Gastric Wall Thickening: A Radiologic Differential Diagnosis
If you want to understand the differential diagnosis:
[INTERNAL LINK ] Differential Diagnosis of Giant Gastric Folds
If you want to understand medical AI:
[INTERNAL LINK] How AI Can Support Abdominal CT Interpretation
If you want to understand radiology workflow:
[INTERNAL LINK] AI-Assisted Detection of Unexpected Findings on Abdominal CT
References
Akita C, Saikawa Y. Gastric Gyri — Pediatric Ménétrier’s Disease. New England Journal of Medicine. 2017;376:774. DOI: 10.1056/NEJMicm1605473.
Krikilion J, Levy EI, Vandenplas Y. Diagnosis and Management of Ménétrier Disease in Children: A Case Series Review. Pediatric Gastroenterology, Hepatology & Nutrition. 2021;24(1):109–117. DOI: 10.5223/pghn.2021.24.1.109.
Huh WJ, Coffey RJ, Washington MK. Ménétrier’s disease: its mimickers and pathogenesis. Journal of Pathology and Translational Medicine. 2016;50:10–16.
Hong J, Lee S, Shon Y. Ménétrier's Disease as a Gastrointestinal Manifestation of Active Cytomegalovirus Infection in a 22-Month-Old Boy: A Case Report with a Review of the Literature of Korean Pediatric Cases. Clinical Endoscopy. 2018;51(1):89–94. DOI: 10.5946/ce.2017.038.
Williamson K, Park HK, Schacht R, Kaistha A. A case of Ménétrier disease in a child. Pediatric Emergency Care. 2012;28(3):277–279. DOI: 10.1097/PEC.0b013e31824957b8.
Clinical note: This article is an educational discussion of a published clinical case and is not a substitute for individualized medical evaluation or treatment.
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