The Kitakanto Medical Journal
Online ISSN : 1881-1191
Print ISSN : 1343-2826
ISSN-L : 1343-2826
CASE REPORTS
A Case of Camurati-Engelmann Disease that Required Psychosocial Follow-up
Shuhei TakahashiNaoaki Hori
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JOURNAL FREE ACCESS

2021 Volume 71 Issue 3 Pages 203-206

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Abstract

  A 6-year-old boy visited our hospital due to gait disturbance. X-ray showed bilateral cortical thickening and irregularity at the diaphysis of long bones, and 99mTc-HMDP bone scintigram showed remarkable accumulation consistent with the lesions. A genetic analysis of TGFB1 revealed a heterozygous R218C variant. Taken together, he was diagnosed with Camurati-Engelmann disease. Walking problems and muscle weakness made it difficult for him to participate in gym activities as well as playing outside with his classmates. This led him to feel excluded and inferior to others. Gradually he became withdrawn, and required psychologic intervention by his school counselors and psychotherapists. Camurati-Engelmann disease is known to have a good prognosis; however, psychosocial follow-up is also mandatory.

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