# Diagnostic Challenges in Seronegative Celiac Disease: A Case of Massive Splenomegaly and Persistent Metabolic Imbalance

## TL;DR

A young woman with unusual symptoms like severe electrolyte issues and a large spleen was diagnosed with celiac disease despite negative blood tests, showing the importance of considering rare cases.

## Contribution

This case emphasizes the diagnostic complexity of seronegative celiac disease and the value of clinical correlation in atypical presentations.

## Key findings

- Electrolyte disturbances and splenomegaly resolved with a gluten-free diet despite negative celiac serology.
- Seronegative celiac disease should be considered in patients with unexplained metabolic and gastrointestinal symptoms.
- Early diagnosis and treatment can lead to significant clinical improvement in atypical celiac disease cases.

## Abstract

We report the case of a young female with recurrent and severe electrolyte disturbances, including persistent hypokalemia, hypocalcemia, hypomagnesemia, and metabolic acidosis, in association with splenomegaly and chronic abdominal complaints. Despite extensive investigations, including repeated biochemical testing, coagulation studies, comprehensive imaging, and a broad infectious and autoimmune work-up, no clear etiology was initially identified. Notably, celiac serology was negative, while stool studies, hepatitis and HIV serology, tuberculosis screening, and tumor markers were unremarkable. Her medical, surgical, and family histories were unremarkable, with no evidence of chronic illness or malignancy. Given the constellation of clinical, laboratory, and imaging findings, seronegative celiac disease (CD) was considered the most likely diagnosis, although not definitively proven. initiation of a strict gluten-free diet and supportive management, with progressive normalization of electrolyte disturbances, significant symptomatic relief, underscoring the importance of early recognition and appropriate treatment of seronegative CD. This case highlights the diagnostic challenges of suspected seronegative CD; the importance of correlating clinical, laboratory, and imaging features; and the need to maintain a high index of suspicion in atypical presentations.