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Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.

ABSTRACT: Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness.We described that a 27-year-old male with a 1-year history of intermittent tetany was referred for bone scintigraphy. The whole body bone scan images showed abnormal increased uptake of the tracer in the long bones of the upper and lower extremities as well as in the skull.Combined the family history, the findings of the images and the genetic study, the diagnosis of Camurati-Engelmann disease was confirmed.The patient responded well to the treatment of calcium gluconate.Bone scintigraphy would be helpful in the diagnosis and assessing the severity of Camurati-Engelmann disease.

SUBMITTER: Xie P

PROVIDER: S-EPMC5502140 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.

Xie Peng P Huang Jian-Min JM Li Huan-Li HL Huang Xiao-Jie XJ Wei Ling-Ge LG

Medicine 20170701 27

<h4>Rationale</h4>Camurati-Engelmann disease (i.e., progressive diaphyseal dysplasia) is an extremely rare autosomal dominant bone disorder. The most common clinical manifestations were chronic skeletal pain, waddling gait, muscular weakness.<h4>Patient concerns</h4>We described that a 27-year-old male with a 1-year history of intermittent tetany was referred for bone scintigraphy. The whole body bone scan images showed abnormal increased uptake of the tracer in the long bones of the upper and l ...[more]

PMID: 28682867

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Project description:BackgroundCamurati-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.MethodsWe 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.ResultsWe 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/m2). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain.ConclusionsCED 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.

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Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.

Publications

Camurati-Engelmann disease-a rare cause of tetany identified on bone scintigraphy: A case report.

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