Giant ischial osteochondroma causing ischiofemoral impingement and sciatic nerve compression in a pediatric patient with Albright’s hereditary osteodystrophy

Q4 Medicine
Travis Jebackumar MS , Ryan Johnson MS , Avery Schroeder MD , Claudio Silveri MD , Jan Lesensky MD, PhD , Ana C. Belzarena MD, MPH, MBA
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引用次数: 0

Abstract

An 8-year-old female with Albright’s hereditary osteodystrophy (AHO) presented with severe right buttock pain, difficulty walking, and a palpable mass in the right ischiofemoral region. Imaging studies demonstrated a large, ossified lesion compressing the sciatic nerve. Surgical resection of the mass resulted in complete resolution of symptoms and restoration of normal gait and function. AHO is a rare genetic disorder caused by mutations in the GNAS1 gene and is characterized by musculoskeletal abnormalities, including a predisposition to subcutaneous ossifications. While osteochondromas are typically asymptomatic, they can cause significant clinical symptoms when they enlarge or impinge on adjacent neurovascular structures. This case illustrates the rare co-occurrence of AHO and a symptomatic giant osteochondroma, underscoring the importance of early recognition and surgical intervention to prevent functional impairment due to neurovascular compression.
巨大坐骨骨软骨瘤引起坐骨股骨撞击和坐骨神经压迫的儿童患者的遗传性骨营养不良
一名8岁女性患有奥尔布赖特遗传性骨营养不良症(AHO),表现为严重的右臀部疼痛,行走困难,右侧坐骨股区可触及肿块。影像学检查显示一个巨大的骨化病变压迫坐骨神经。手术切除肿块导致症状完全消退,步态和功能恢复正常。世卫组织是由GNAS1基因突变引起的一种罕见遗传疾病,其特征是肌肉骨骼异常,包括易患皮下骨化症。虽然骨软骨瘤通常无症状,但当其扩大或冲击邻近的神经血管结构时,可引起明显的临床症状。该病例说明世卫组织与症状性巨大骨软骨瘤罕见共存,强调了早期识别和手术干预的重要性,以防止因神经血管受压而导致的功能损害。
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来源期刊
Radiology Case Reports
Radiology Case Reports Medicine-Radiology, Nuclear Medicine and Imaging
CiteScore
1.10
自引率
0.00%
发文量
1074
审稿时长
30 days
期刊介绍: The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.
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