Case Report: We report two cases with atypical clinical presentation of ectopic thymus and superior herniation of normal thymus. Both of the patients manifested as intermittent midline mass at the suprasternal region during Valsalva manuevre. Unique ultrasound features with the location along the thymic descent together with dynamic assessment of the organ movement were essential to reach the correct diagnosis. Conservative approach was considered in these patients considering the necessity of thymus in the process of puberty.
Conclusion: High index of suspicion is of utmost importance when encounter patient with similar clinical manifestation to avoid unnecessary diagnostic modalities and surgeries. Accurate diagnosis will also alleviate parents' anxiety.
Methods: We describe a 22-year-old woman with xanthomatous hypophysitis (XH), its clinical progression over 8 years as well as the treatment effects of prednisolone and azathioprine. Our patient was first referred for severe short stature and delayed puberty at the age of 14 years.
Results: Investigations revealed multiple pituitary deficiencies. Magnetic resonance imaging showed a pituitary mass whereby a partial resection was performed. A full resection was not feasible due to the location of the mass. The histopathologic analysis of the tissue was consistent with XH. The results of secondary workout for neoplasm, infection, autoimmune, and inflammatory disorders were negative. After surgery, a progressive enlargement of the mass was observed. Two courses of prednisolone were administered with a significant reduction in the mass size. Azathioprine was added due to the unsustained effects of prednisolone when tapered off and the concern of steroid toxicity with continued use. No further increase in the mass size was noted after 6 months on azathioprine.
Conclusion: Glucocorticoid and immunotherapy are treatment options for XH; however, more cases are needed to better understand its pathogenesis and clinical progression.