A new LRP6 variant and Camurati-Engelmann-like disease
نویسندگان
چکیده
Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGF?1 gene. A young woman was hospitalized with intense pain in lower limbs, associated radiographic hyperostosis and sclerosis long bones. Mutation LRP6 has recently been high mass. In this case report, missense variant gene features Camurati-Engelmann. More studies should be conducted assess pathological role Camurati-Engelmann-like disease.
منابع مشابه
Menière-like syndrome in Camurati-Engelmann disease.
This 42 year old woman had a history of delayed motor development, chronic muscle fatigue and gait disturbance. Her mother and mother’s brother suffered from similar symptoms. At the age of 20 she was diagnosed with Camurati-Engelmann syndrome. At that time she started to suffer from fluctuating tinnitus in the right ear and attacks of rotational vertigo lasting hours. The vertigo was accompani...
متن کامل[Camurati-Engelmann disease].
1Senior Registrar, Endocrinology, 2Consultant Endocrinologist, 3Consultant Radiologist, 4Senior Registrar, Orthopedic, 5Consultant Orthopedic Surgeon, 6Consultant Histo Pathologist, National Hospital of Sri Lanka. Figure 1. Xray skull – lateral. Figure 2. Histology of the bone biopsy shows mature thick cortical lamellar bone with regular prominent cement lines (thick arrow) with prominent osteo...
متن کاملRegarding Camurati-Engelmann Disease: In Reply
Alisher J. Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho, Reply: We thank Dr. Viana and colleagues for the interest in our study. It was interesting to know about four Brazilian patients with Camurati-Engelmann disease (CED). Making a timely and correct diagnosis is still important to avoid unnecessary ...
متن کاملSkull base manifestations of Camurati-Engelmann disease.
OBJECTIVE To describe presenting symptoms, evaluation findings, and surgical management of cranial base hyperostosis in patients with Camurati-Engelmann disease (CED). DESIGN Retrospective study and literature review. SETTING The Mayo Clinic, Rochester, Minnesota. PATIENTS A total of 306 patients diagnosed as having CED, including 12 primarily evaluated at our institution between 1968 and...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Bone
سال: 2021
ISSN: ['8756-3282', '1873-2763']
DOI: https://doi.org/10.1016/j.bone.2020.115706