Stenosis of the spinal canal of the thoracic spine in a patient with autosomal dominant osteopetrosis type 2

Issledovaniâ i Praktika v Medicine

A. A. Vishnevskiy¹ 

[1] Saint-Petersburg State Research Institute of Phthisiopulmonology of the Ministry of Healthcare of the Russian Federation;

关键词: genetic testing;    infectious spondylitis;    the clcn7 gene mutation;    osteopetrosis;    palliative surgical treatment;    inheritance;    tuberculous spondylitis;   

DOI  :  10.17709/2409-2231-2018-5-3-13

来源: DOAJ

【 摘 要 】

The presented clinical observa on of a 41-year-old pa ent with an autosomal dominant form of osteopetrosis type II is interes ng not only from the point of view of the complexity of diagnosis of a rare genetic disease complicated by spinal stenosis, but also to determine the tactics of treatment. The patient was examined and treated by phthisiatricians. Histological examina on of the material obtained with trepanobiopsy showed dystrophic changes in bone tissue and poor infi ltra on with lymphocytes; data for tuberculosis of the spine was not revealed. Taking into account the pronounced neurological disorders on the background of spinal cord compression, as well as the instability of the spine, the patient was carried out pallia ve surgery (open biopsy with decompression of the spinal canal, posterior laminar fi xa on of ThVIII—LII and anterior fi xa on of ThVIII–XII combined  tanium implant).  Histological examina on of tissues obtained by open biopsy allowed to suspect a rare disease and fi nally verify the diagnosis after genetic examina on.

【 授权许可】

Unknown