Over 100 years ago, Dr Hermann Kümmell described a rare clinical entity in which patients, after a trivial trauma and an asymptomatic period, developed a progressive vertebral body collapse and a painful kyphosis. We present the case of a 31years old heavy labourer, fitting Kümmell's criteria. The patient referred to us in an incapacitated state, due to persistent back pain. Radiographic examination revealed a body collapse of L1 vertebra. The patient had no previous medical record, other than a prolonged history of transient back pain episodes, related to heavy-weight lifting. Last attack was 1 year before presentation. Through course of time, he had undergone several clinical and radiological evaluations, by different orthopaedists, on different occasions, including the last episode, with no major findings. After an extensive workup, a percutaneous kyphoplasty of the affected vertebra was performed and a biopsy was obtained. The histologic examination of the specimen revealed vertebral osteonecrosis. A triggering pattern of repetitive spinal loading in hyperflexion is, for the first time, being recognized. We conclude that Kümmell's disease, although a rare condition, should be considered in any patient with refractory back pain symptoms. In such patients, vigorous follow-up turns to be of the essence.
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Elife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
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School of Basic Medical Sciences, Institute of Cardiovascular Sciences, State Key Laboratory of Vascular Homeostasis and Remodeling, Peking University Health Science Center, Beijing, China. (Z.L., L.Y., Y.Y., J.L., Z.C., C.G., Y.G.).
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Newborn Screening Center, Xuzhou Maternity and Child Health Care Hospital, Xuzhou, China.
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