ABSTRACT
This case report describes a 32-year-old Pakistani male patient with an Ewing sarcoma (ES) of the adrenal gland. Presenting complaints were abdominal distention, pain, low-grade fever, and weight loss. Initial studies, including imaging and tumor markers, ruled out any other possible origins of the mass. A percutaneous biopsy verified the tumor's neuroendocrine origin. Extensive involvement of nearby anatomical structures was discovered through exploratory laparotomy, rendering total resection difficult. Based on the presence of malignant, round, blue cells that were positive for specific immunostaining markers, the histopathology report supported the diagnosis of an ES with a staging of T3N0M0. Chemotherapy, in accordance with the VAC-IE protocol, was administered after debulking surgery. Subsequent imaging and close monitoring revealed no metastatic or residual tumors. Adrenal ES is an uncommon, aggressive tumor that mandates prompt diagnosis and management. This case report highlights the value of early detection and multimodal therapy in enhancing patient outcomes for this rare malignancy.
ABSTRACT
Kearns-Sayre syndrome (KSS) is one of the three classic and overlapping phenotypes that result from simplex mitochondrial DNA (mtDNA) deletion syndromes. The rarity of the syndrome has led to a paucity of reported cases in the literature. We present the case of a young female who presented with drooping of her right eyelid, generalized muscle wasting, fatigability of the proximal muscles of her limbs, a nasal twang in her voice, bilateral progressive ophthalmoplegia, and a history of surgically correct ptosis of her left eyelid. Fundoscopy revealed salt-and-pepper-like retinopathy bilaterally. Her electrocardiogram (ECG) findings included an inferior infarct and a left anterior fascicular block. This case highlights the importance of multifaceted investigations and prompt diagnosis in resource-limited settings for effective management in suspected cases of KSS.
