rpmjResearch'n Practical Medicine JournalResearch and Practical Medicine Journal2410-1893"QUASAR", LLC10.17709/2409-2231-2018-5-3-13rpmj-301Research ArticleКлинические наблюденияClinical Case ReportsСтеноз позвоночного канала грудного отдела позвоночника у пациента с аутосомно-доминантным остеопетрозом II типаStenosis of the spinal canal of the thoracic spine in a patient with autosomal dominant osteopetrosis type 2ВишневскийА. А.VishnevskiyA. A.

Вишневский Аркадий Анатольевич - доктор медицинских наук, ведущий научный сотрудник, нейрохирург.

191036, Санкт-Петербург, Лиговский пр., д. 2-4

Arkadiy A.Vishnevskiy - MD, PhD, DSc, leading researcher, neurosurgeon.

2-4 Ligovskii pr., St. Petersburg 191036

vichnevsky@mail.ruФГБУ «Санкт-Петербургский НИИ фтизиопульмонологии» Министерства здравоохранения Российской ФедерацииРоссияSaint-Petersburg State Research Institute of Phthisiopulmonology of the Ministry of Healthcare of the Russian FederationRussian Federation20181109201853126135Copyright © Вишневский А.А., 20182018Вишневский А.А.Vishnevskiy A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.rpmj.ru/rpmj/article/view/301

Представленное клиническое наблюдение пациента 41 года с аутосомно-доминантной формой остеопетроза II типа интересно не только с точки зрения сложности диагностики редкого генетического заболевания, осложнившегося стенозом позвоночного канала, но и определения тактики лечения. Больной проходил обследование и лечение у фтизиатров. Гистологическое исследование материала, полученного при трепанобиопсии, показало дистрофические изменения костной ткани и скудную инфильтрацию лимфоцитами; данных за туберкулезное поражение позвоночника выявлено не было. Учитывая выраженные неврологические нарушения на фоне компрессии спинного мозга, а также нестабильность позвоночника, больному было проведено паллиативное оперативное вмешательство (открытая биопсия с декомпрессией позвоночного канала, задняя ламинарная фиксация ThVIII—LII и передняя фиксация ThVIII–XII комбинированным титановым имплантом). Гистологическое исследование тканей, полученных при открытой биопсии, позволило заподозрить редкое заболевание и окончательно верифицировать диагноз после проведения генетической экспертизы.

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.

генетическое исследованиеинфекционные спондилитымутация гена CLCN7остеопетрозпаллиативное хирургическое лечениетип наследованиятуберкулезный спондилитgenetic testinginfectious spondylitisthe CLCN7 gene mutationosteopetrosispalliative surgical treatmentinheritancetuberculous spondylitisReferencesAlbers-Schonberg H. Roentgenbilder einer seltenen Knochennerkrankung. Munch Med Wochenschr. 1904. 5, 51:365.Albers-Schonberg H. Roentgenbilder einer seltenen Knochennerkrankung. Munch Med Wochenschr. 1904. 5, 51:365.ЯкуповаЭ.В.,КрасавцеваТ.Н.,МахонинВ.Б.,БайрамгуловР.Р., Степанова Р.Н., Халилова А.И. Остеопетроз (обзор литературы и описание собственных наблюдений). Вопросы гематологии, онкологии и иммунопатологии в педиатрии. 2006;5(1):40-3.Yakupova EV, Krasavtseva TN, Makhonin VB, Bairamgulov RR, Stepanova RN, Khalilova AI. Osteopetrosis (review of literature and report of cases). Pediatric Hematology/Oncology and Immunopathology. 2006;5(1):40-3. (In Russian).Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29. DOI: 10.1016/j.bone.2007.08.029Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29. DOI: 10.1016/j.bone.2007.08.029Senel K, Ugur M, Erdal A, Özdemir H. Type II autosomal dominant osteopetrosis. Rheumatol Int. 2002 Jul;22(3):116-8. DOI: 10.1007/s00296-002-0200-4Senel K, Ugur M, Erdal A, Özdemir H. Type II autosomal dominant osteopetrosis. Rheumatol Int. 2002 Jul;22(3):116-8. DOI: 10.1007/s00296-002-0200-4Bonapace G, Moricca M, Talarico V, Graziano F, Pensabene L, Miniero R. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis. Ital J Pediatr. 2014 Nov 20;40:90. DOI: 10.1186/s13052-014-0090-6Bonapace G, Moricca M, Talarico V, Graziano F, Pensabene L, Miniero R. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis. Ital J Pediatr. 2014 Nov 20;40:90. DOI: 10.1186/s13052-014-0090-6Gillani S, Zaheer Abbas Z. Malignant Infantile Osteopetrosis. J Ayub Med Coll Abbottabad. 2017 Apr-Jun;29(2):350-352.Gillani S, Zaheer Abbas Z. Malignant Infantile Osteopetrosis. J Ayub Med Coll Abbottabad. 2017 Apr-Jun;29(2):350-352.Rajathi M, Austin RD, Mathew P, Bharathi CS, Srivastava KC. Autosomal-dominant osteopetrosis: an incidental finding. Indian J Dent Res. 2010 Oct-Dec;21(4):611-4. DOI: 10.4103/09709290.74234.Rajathi M, Austin RD, Mathew P, Bharathi CS, Srivastava KC. Autosomal-dominant osteopetrosis: an incidental finding. Indian J Dent Res. 2010 Oct-Dec;21(4):611-4. DOI: 10.4103/09709290.74234.Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 2001 Dec 1;10(25):2861-7.Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 2001 Dec 1;10(25):2861-7.Wang C, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, et al. The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families. J Bone Miner Metab. 2012 May;30(3):338-48. DOI: 10.1007/s00774-011-0319-zWang C, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, et al. The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families. J Bone Miner Metab. 2012 May;30(3):338-48. DOI: 10.1007/s00774-011-0319-zZheng H, Shao C, He JW, Fu WZ, Wang C, Zhang ZL. Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II). J Bone Miner Metab. 2016 Jul;34(4):440-6. DOI: 10.1007/s00774-015-0682-2.Zheng H, Shao C, He JW, Fu WZ, Wang C, Zhang ZL. Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II). J Bone Miner Metab. 2016 Jul;34(4):440-6. DOI: 10.1007/s00774-015-0682-2.Liu YP, Lin XH, Yan MY, Lin BQ, Zhuo MY. Debridement in chronic osteomyelitis with benign osteopetrosis: A case report. Exp Ther Med. 2016 Nov;12(5):2811-2814. DOI: 10.3892/etm.2016.3706Liu YP, Lin XH, Yan MY, Lin BQ, Zhuo MY. Debridement in chronic osteomyelitis with benign osteopetrosis: A case report. Exp Ther Med. 2016 Nov;12(5):2811-2814. DOI: 10.3892/etm.2016.3706Alsharidi A, Alsuwaida A. Carbonic anhydrase II deficiency: report of a novel mutation. CEN Case Rep. 2016 May;5(1):108112. DOI: 10.1007/s13730-015-0205-yAlsharidi A, Alsuwaida A. Carbonic anhydrase II deficiency: report of a novel mutation. CEN Case Rep. 2016 May;5(1):108112. DOI: 10.1007/s13730-015-0205-yXiaohong D, Jin LX, Zheng ZW, Yanli Z, Ying H, Tielin Y, Hongwen D. Deficiency of ATP6V1H Causes bone loss by inhibiting bone resorption and bone formation through the TGF-β1 Pathway. Theranostics. 2016 Sep 13;6(12):2183-2195. DOI: 10.7150/thno.17140Xiaohong D, Jin LX, Zheng ZW, Yanli Z, Ying H, Tielin Y, Hongwen D. Deficiency of ATP6V1H Causes bone loss by inhibiting bone resorption and bone formation through the TGF-β1 Pathway. Theranostics. 2016 Sep 13;6(12):2183-2195. DOI: 10.7150/thno.17140Armstrong DG, Newfield JT, Gillespie R. Orthopedic management of osteopetrosis: results of a survey and review of the literature. J Pediatr Orthop 1999;19(1):122-32.Armstrong DG, Newfield JT, Gillespie R. Orthopedic management of osteopetrosis: results of a survey and review of the literature. J Pediatr Orthop 1999;19(1):122-32.Stark Z, Savarirayan R. Osteopetrosis. Orphanet. J Rare Dis. 2009;20:4Р5. DOI:10.1186/1750-1172-4-5Stark Z, Savarirayan R. Osteopetrosis. Orphanet. J Rare Dis. 2009;20:4Р5. DOI:10.1186/1750-1172-4-5Calvin C, Wu CС, Econs MJ, Di Meglio LA, Insogna KL, Levine MA, Orchard P, et al. Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. DOI: 10.1210/jc.2017-01127.Calvin C, Wu CС, Econs MJ, Di Meglio LA, Insogna KL, Levine MA, Orchard P, et al. Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. DOI: 10.1210/jc.2017-01127.Jayachandran S, Kumar MS. A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports. Indian J Dent Res. 2016 Nov-Dec;27(6):667-671. DOI: 10.4103/0970-9290.199603Jayachandran S, Kumar MS. A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports. Indian J Dent Res. 2016 Nov-Dec;27(6):667-671. DOI: 10.4103/0970-9290.199603Katsevman GA, Turner RC, Lucke-Wold BP, Sedney CL, Bhatia S. Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma. Acta Neurochir (Wien). 2016 Jun;158(6):111520. DOI: 10.1007/s00701-016-2794-4.Katsevman GA, Turner RC, Lucke-Wold BP, Sedney CL, Bhatia S. Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma. Acta Neurochir (Wien). 2016 Jun;158(6):111520. DOI: 10.1007/s00701-016-2794-4.Rathod AK, Dhake RP. Borde MD. Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management. Eur Spine J. 2017 May;26(Suppl 1):229-235. DOI: 10.1007/s00586-017-5083-xRathod AK, Dhake RP. Borde MD. Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management. Eur Spine J. 2017 May;26(Suppl 1):229-235. DOI: 10.1007/s00586-017-5083-xHatz D, Esposito PW, Schroeder B, Burke B, Lutz R, Hasley BP. The Incidence of spondylolysis and spondylolisthesis in children with osteogenesis imperfecta. J Pediatr Orthop. 2011 Sep;31(6):655-60. DOI: 10.1097/BPO.0b013e31822889c9Hatz D, Esposito PW, Schroeder B, Burke B, Lutz R, Hasley BP. The Incidence of spondylolysis and spondylolisthesis in children with osteogenesis imperfecta. J Pediatr Orthop. 2011 Sep;31(6):655-60. DOI: 10.1097/BPO.0b013e31822889c9Mohapatra B, Kishen T, Diwan AD. Multiple lumbar pedicle fractures in osteopetrosis. A case report. Spine (Phila Pa 1976). 2010 Apr 15;35(8):E311-5. DOI: 10.1097/BRS.0b013e3181c39082Mohapatra B, Kishen T, Diwan AD. Multiple lumbar pedicle fractures in osteopetrosis. A case report. Spine (Phila Pa 1976). 2010 Apr 15;35(8):E311-5. DOI: 10.1097/BRS.0b013e3181c39082Suzuki S, Awaya G. Stress fracture of the vertebral arch in osteopetrosis. Clin Orthop Relat Res. 1986 Dec;(213):232-6.Suzuki S, Awaya G. Stress fracture of the vertebral arch in osteopetrosis. Clin Orthop Relat Res. 1986 Dec;(213):232-6.Matrane AE, Issami S, Bsiss MA. Marble bone disease: the role of SPECT/CT hybrid imagin. Arch Pediatr. 2016 Jul;23(7):7148. DOI: 10.1016/j.arcped.2016.04.009Matrane AE, Issami S, Bsiss MA. Marble bone disease: the role of SPECT/CT hybrid imagin. Arch Pediatr. 2016 Jul;23(7):7148. DOI: 10.1016/j.arcped.2016.04.009Zheng LC, OuYang XL, Liu GC, Zhang WJ, Zhang XM. Tc99(m)-MDP imaging of osteopetrosis. Case report. Medicine. 2015;94(22):e929 DOI: 10.1097/MD.0000000000000929Zheng LC, OuYang XL, Liu GC, Zhang WJ, Zhang XM. Tc99(m)-MDP imaging of osteopetrosis. Case report. Medicine. 2015;94(22):e929 DOI: 10.1097/MD.0000000000000929Ramkishan D, Narsimulu SY. De conservative Vs operative management of long bone fractures in osteopetrosis: long term study in 12 yrs period. J. Evolution Medical Dental Science. 2016;5(69):5003-6. DOI: 10.14260/jemds/2016/1136Ramkishan D, Narsimulu SY. De conservative Vs operative management of long bone fractures in osteopetrosis: long term study in 12 yrs period. J. Evolution Medical Dental Science. 2016;5(69):5003-6. DOI: 10.14260/jemds/2016/1136

The authors declare that there are no conflicts of interest present.