Giant ischial osteochondroma causing ischiofemoral impingement and sciatic nerve compression in a pediatric patient with Albright's hereditary osteodystrophy

. 2025 Dec ; 20 (12) : 6189-6195. [epub] 20250924

Status PubMed-not-MEDLINE Jazyk angličtina Země Nizozemsko Médium electronic-ecollection

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/pmid41070289
Odkazy

PubMed 41070289
PubMed Central PMC12506491
DOI 10.1016/j.radcr.2025.08.075
PII: S1930-0433(25)00809-X
Knihovny.cz E-zdroje

An 8-year-old female with Albright's hereditary osteodystrophy (AHO) presented with severe right buttock pain, difficulty walking, and a palpable mass in the right ischiofemoral region. Imaging studies demonstrated a large, ossified lesion compressing the sciatic nerve. Surgical resection of the mass resulted in complete resolution of symptoms and restoration of normal gait and function. AHO is a rare genetic disorder caused by mutations in the GNAS1 gene and is characterized by musculoskeletal abnormalities, including a predisposition to subcutaneous ossifications. While osteochondromas are typically asymptomatic, they can cause significant clinical symptoms when they enlarge or impinge on adjacent neurovascular structures. This case illustrates the rare co-occurrence of AHO and a symptomatic giant osteochondroma, underscoring the importance of early recognition and surgical intervention to prevent functional impairment due to neurovascular compression.

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Sarathi V., Wadhwa R. StatPearls. StatPearls Publishing; Treasure Island (FL): 2025. Albright hereditary osteodystrophy.https://www.ncbi.nlm.nih.gov/sites/books/NBK559141 [accessed 26.06.2023 ] Available from. PubMed

Linglart A., Levine M.A., Jüppner H. Pseudohypoparathyroidism. Endocrinol Metabol Clin North Am. 2018;47(4):865–888. doi: 10.1016/j.ecl.2018.07.011. PubMed DOI PMC

Lemos M.C., Thakker RV. GNAS mutations in pseudohypoparathyroidism type 1a and related disorders. Hum Mutat. 2015;36(1):11–19. doi: 10.1002/humu.22696. PubMed DOI PMC

Haldeman-Englert C.R., Hurst A.C.E., Levine MA., et al. In: GeneReviews®. editors. Adam M.P., Feldman J., Mirzaa G.M., et al., editors. University of Washington, Seattle; Seattle (WA): 1993. 2025. Disorders of GNAS inactivation.https://www.ncbi.nlm.nih.gov/books/NBK459117/ Available from. PubMed

Alabdullrahman L.W., Mabrouk A., Byerly D.W. StatPearls. StatPearls Publishing; Treasure Island (FL): 2025. Osteochondroma.https://www.ncbi.nlm.nih.gov/sites/books/NBK544296/ [accessed 26.02.2024] Available from. PubMed

Murphey M.D., Choi J.J., Kransdorf M.J., Flemming D.J., Gannon FH. Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. Radiographics. 2000;20(5):1407–1434. PubMed

Kitsoulis P., Galani V., Stefanaki K., Paraskevas G., Karatzias G., Agnantis N.J., et al. Osteochondromas: review of the clinical, radiological and pathological features. In Vivo. 2008;22(5):633–646. PubMed

Noonan K.J., Feinberg J.R., Levenda A., Snead J., Wurtz LD. Natural history of multiple hereditary osteochondromatosis of the lower extremity and ankle. J Pediatr Orthop. 2002;22:120–124. PubMed

Tepelenis K., Papathanakos G., Kitsouli A., Troupis T., Barbouti A., Vlachos K., et al. An updated review of epidemiology, pathogenesis, clinical presentation, radiological features and treatment options. In Vivo. 2021;35(2):681–691. doi: 10.21873/invivo.12308. PubMed DOI PMC

Davis D., Taqi M., Vasudevan A. StatPearls. StatPearls Publishing; Treasure Island (FL): 2025. Sciatica.https://www.ncbi.nlm.nih.gov/books/NBK507908/ [accessed 04.01.2024] Available from.

Jensen R K, Kongsted A., Kjaer P., Koes B. Diagnosis and treatment of sciatica. BMJ. 2019;367:l6273. https://www.bmj.com/content/367/bmj.l6273 Available from. PubMed

Wu W.T., Chang K.V., Mezian K., Naňka O., Ricci V., Chang H.C., et al. Ischiofemoral impingement syndrome: clinical and imaging/guidance issues with special focus on ultrasonography. Diagnostics. 2022;13(1):139. doi: 10.3390/diagnostics13010139. PubMed DOI PMC

Salemi P., Skalamera Olson J.M., Dickson L.E., Germain-Lee E.L. Ossifications in Albright hereditary osteodystrophy: role of genotype, inheritance, sex, age, hormonal status, and BMI. J Clin Endocrinol Metab. 2018;103(1):158–168. doi: 10.1210/jc.2017-00860. PubMed DOI PMC

Huso D.L., Edie S., Levine M.A., Schwindinger W., Wang Y., Jüppner H., et al. Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy. PLoS One. 2011;6(6) doi: 10.1371/journal.pone.0021755. PubMed DOI PMC

Ringel M.D., Schwindinger W.F., Levine MA. Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine. 1996;75(4):171–184. doi: 10.1097/00005792-199607000-00001. PubMed DOI

Mujtaba B., Taher A., Fiala M.J., Nassar S., Madewell J.E., Hanafy A.K., et al. Heterotopic ossification: radiological and pathological review. Radiol Oncol. 2019;53(3):275–284. doi: 10.2478/raon-2019-0039. PubMed DOI PMC

Douis H., Saifuddin A. The imaging of cartilaginous bone tumours. I. Benign lesions. Skeletal Radiol. 2012;41(10):1195–1212. doi: 10.1007/s00256-012-1427-0. PubMed DOI

Mavrogenis A.F., Papagelopoulos P.J., Soucacos P.N. Skeletal osteochondromas revisited. Orthopedics. 2008;31(10) orthosupersite.com/view.asp?rID=32071 PubMed

Althagafi A., Nadi M. StatPearls [Internet] StatPearls Publishing; Treasure Island (FL): 2025. Acute nerve injury.https://www.ncbi.nlm.nih.gov/books/NBK549848/ [accessed 7.08.2023] Available from. PubMed

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