Orthopedic Manifestations of Type I Camurati-Engelmann Disease
| Autor: | Moon Seok Park, In Ho Choi, Alisher J. Yuldashev, Tae Joon Cho, Ok Hwa Kim, Won Joon Yoo, Chang Ho Shin, Yong Sung Kim, Jong Hee Chae, Woo Young Jang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Pediatrics Weakness Asymptomatic 03 medical and health sciences 0302 clinical medicine Skeletal disorder Internal medicine Severity of illness Medicine Orthopedics and Sports Medicine Young adult 030203 arthritis & rheumatology business.industry Camurati–Engelmann disease Camurati-Engelmann syndrome Transforming growth factor beta 1 Phenotype medicine.disease 030104 developmental biology Endocrinology Surgery Original Article Differential diagnosis medicine.symptom business Rare disease |
| Zdroj: | Clinics in Orthopedic Surgery CLINICS IN ORTHOPEDIC SURGERY(9): 1 |
| ISSN: | 2005-4408 2005-291X |
| Popis: | Background: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. Methods: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course. They were 4 sporadic patients, and two pairs of mother and son. Results: We categorized the mode of presentation into three groups. Group I had 4 patients who mainly presented with motor disturbances in young age. They drew medical attention for waddling gait, awkward ambulation or running, difficulty in going upstairs, or a positive Gower's sign at age 4 to 6 years. Subsequent development of limb pain and radiographic abnormality led to the diagnosis of CED at age 6 to 29 years. Group II had 3 patients who mainly presented with limb pain at age 15, 20, and 54 years, respectively. Radiographic evaluation and molecular genetic test led to the diagnosis of CED. The remaining 1 patient (group III) was asymptomatic until age 9 years when bony lesions at the tibiae were found incidentally. For the last 10 years, he intermittently complained of leg pain in the morning or after sports activities, which did not interfere with daily life. All the patients in group I showed a body mass index in the underweight range (< 18.4 kg/m(2)). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain. Conclusions: CED presents with a wide range of severity. Awareness of this rare disease entity may be the key to timely correct diagnosis. This disease entity should be considered in the differential diagnosis of limb pain or motor disturbance in children to avoid unnecessary diagnostic work-up. |
| Databáze: | OpenAIRE |
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