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This case scenario elaborately discusses probable differential diagnoses relating to hyperpigmentation, weight loss, and weakness. The schoolboy in the case study initially was thought to have Addison disease on the basis of typical clinical picture and subnormal plasma cortisol level. However, on repeat testing combined with the ACTH stimulation test, he was proved to have an intact HPA axis, effectively ruling out Addison disease. His neurologic symptoms and sensory involvement prompted the investigations to exclude subacute combined degeneration of the spinal cord (SCD) that revealed significant deficiency of serum vit-B12. Finally, the presence of anti-intrinsic factor antibody in blood and gastritis on UGIT endoscopy confirmed the diagnosis of pernicious anemia.

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A 13-Year-Old Boy with Generalized Pigmentation and Fever

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  • 发表日期：

    2025年

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  • Sharmin Jahan

摘要

This case scenario elaborately discusses probable differential diagnoses relating to hyperpigmentation, weight loss, and weakness. The schoolboy in the case study initially was thought to have Addison disease on the basis of typical clinical picture and subnormal plasma cortisol level. However, on repeat testing combined with the ACTH stimulation test, he was proved to have an intact HPA axis, effectively ruling out Addison disease. His neurologic symptoms and sensory involvement prompted the investigations to exclude subacute combined degeneration of the spinal cord (SCD) that revealed significant deficiency of serum vit-B12. Finally, the presence of anti-intrinsic factor antibody in blood and gastritis on UGIT endoscopy confirmed the diagnosis of pernicious anemia.