Department of Pediatric Rheumatology, Ankara Etlik City Hospital, Ankara, Turkey.
Department of Pediatric Radiology, Hacettepe University, Ankara, Turkey.
Pediatr Rheumatol Online J. 2024 Oct 8;22(1):89. doi: 10.1186/s12969-024-01016-9.
Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones' diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is typically inherited in an autosomal dominant pattern. Patients with CED often present with symptoms such as chronic bone pain, muscle weakness, fatigue, and difficulty walking.
We report a 30-month-old boy who presented with gait abnormality. Initially, toxic synovitis was considered, and non-steroidal anti-inflammatory (NSAİ) treatment was administered. The patient did not respond to NSAİ treatment. Direct radiographs showed diaphyseal thickening, especially in the long bones. Radiologically, CED was suspected, and clinical exome sequencing identified a TGFB-1: c1121C > G (Pro374Arg) heterozygous mutation, which was interpreted as a possible pathogenic variant for CED. A clinical, radiologic, and genetic diagnosis of CED was made.
Due to its rarity and variable clinical presentation, the diagnosis of CED can be challenging and often requires a high index of suspicion. Early and accurate diagnosis is crucial for managing symptoms and improving patients' quality of life.
Camurati-Engelmann 病（CED），也称为进行性骨干发育不良，是一种罕见的遗传性疾病，其特征是长骨干骺端异常增厚。这种情况是由转化生长因子β-1（TGFB-1）基因突变引起的，通常以常染色体显性遗传模式遗传。CED 患者常出现慢性骨痛、肌肉无力、疲劳和行走困难等症状。
我们报告了一名 30 个月大的男孩，他出现步态异常。最初考虑毒性滑膜炎，并给予非甾体抗炎药（NSAID）治疗。但患者对 NSAID 治疗无反应。直接射线照相显示骨干增厚，特别是长骨。影像学怀疑 CED，并通过临床外显子组测序发现 TGFB-1：c1121C > G（Pro374Arg）杂合突变，该突变被解释为 CED 的可能致病性变异。做出了 CED 的临床、放射学和遗传学诊断。
由于其罕见性和不同的临床表现，CED 的诊断可能具有挑战性，通常需要高度怀疑。早期和准确的诊断对于管理症状和提高患者的生活质量至关重要。
