B Santosh, Kotha Jyothsna Priya
Bangalore Baptist Hospital, Bengaluru, Karnataka, India.
J Assoc Physicians India. 2023 Jan;71(1):1.
Camurati-Engelmann disease (CED) is a rare autosomal dominant disease. It is characterized by hyperostosis of the long bones and the skull, Clinically patient will have limb pain, proximal muscle weakness a wide-based gait. The gene causing CED is located on chromosome 19, this region contains the gene encoding the TGF Beta -1. The diagnosis of CED is established in a proband with the characteristic radiographic findings and molecular genetic testing for TGF Beta-1 mutation. Treatment is with corticosteroids and Losartan.
A 40 year old lady presented with complaints of Left lower limb pain for 1 year duration. On examination there was tenderness of left greater trochanter, proximal and distal femur was present. Blood investigations showed high PTH and low Vitamin-D3. Imaging showed non specific sclerotic lesions in femur. As patient brother had limp since childhood genetic disorders were and a provisional diagnosis of sclerotic bone disease probable Progressive diaphyseal dysplasia was considered. PET-CT was done which revealed abnormal osteoblastic activity in both femurs, focal hyperostosis in humeral diaphysis suggestive of CED. She was tested Positive for TGF beta 1 mutation consistent with CED. He was started on LOSARTAN. On follow up patient is pain free.
Her brother was also evaluated in view of his limp and he was also diagnosed as CED.
The diagnosis in this case was based on the clinical history, family history and characteristic radiological findings and genetic testing which confirmed TGF Beta-1 mutation. Family history is crucial in this case which led to diagnosis. References Van Hul W, Boudin E, Vanhoenacker FM, et al. Camurati Engelmann disease. Calcif Tissue Int 2019;104(5):554-560. Camurati-Engelmann Disease. NORD (National Organization for Rare Disorders); 2022.
卡穆拉蒂 - 恩格尔曼病（CED）是一种罕见的常染色体显性疾病。其特征为长骨和颅骨骨质增生，临床上患者会出现肢体疼痛、近端肌肉无力及宽基步态。导致 CED 的基因位于 19 号染色体上，该区域包含编码转化生长因子β -1 的基因。CED 的诊断通过先证者具有特征性的影像学表现及针对转化生长因子β -1 突变的分子遗传学检测来确立。治疗采用皮质类固醇和氯沙坦。
一名 40 岁女性因左下肢疼痛 1 年就诊。检查发现左大转子压痛，股骨近端和远端均有压痛。血液检查显示甲状旁腺激素水平高，维生素 D3 水平低。影像学检查显示股骨有非特异性硬化性病变。由于患者的兄弟自幼跛行，怀疑有遗传性疾病，初步诊断可能为硬化性骨病，考虑进行性骨干发育异常。进行了正电子发射断层扫描 - 计算机断层扫描（PET - CT），结果显示双侧股骨有异常成骨活动，肱骨干有局灶性骨质增生，提示为 CED。她的转化生长因子β -1 突变检测呈阳性，与 CED 相符。她开始服用氯沙坦。随访时患者无痛。
鉴于其兄弟跛行，对他也进行了评估，他也被诊断为 CED。
该病例的诊断基于临床病史、家族史、特征性影像学表现及基因检测，基因检测证实了转化生长因子β -1 突变。在本病例中，家族史对诊断至关重要。参考文献：Van Hul W, Boudin E, Vanhoenacker FM, 等。卡穆拉蒂 - 恩格尔曼病。《钙化组织国际》2019 年；104(5):554 - 560。卡穆拉蒂 - 恩格尔曼病。罕见病组织（NORD）；2022 年。
