セロネガティブセリアック病における診断の課題：巨大脾腫と持続的な代謝異常の一例

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.