Tag Archive for: osteogenesis imperfecta

Bruck Syndrome (Bone Fragility with Congenital Joint Contractures): A Case Report

Volume 7 | Issue 3 | September-December 2021 | Page: 29-34 | Gaurav Gupta, Qaisur Rabbi, Maulin Shah, Vikas Bohra
DOI-10.13107/ijpo.2021.v07i03.120

Authors: Deepika A. Pinto MS DNB Orth. [1], Sandeep V. Vaidya MS DNB Orth. [1]

[1] Department of Paediatric Orthopaedics, Pinnacle Ortho Center, LBS Road, Thane West, Maharashtra, India.

Address of Correspondence
Dr. Deepika A. Pinto,
Clinical Associate in Paediatric Orthopaedics, Pinnacle Ortho Center, LBS Road, Thane West, Maharashtra, India.
E-mail: deepupinto@gmail.com

Abstract

Background: Bruck syndrome is a disorder in which features of osteogenesis imperfecta and arthrogryposis multiplex congenita coexist. It is an extremely rare condition with less than 40 cases reported worldwide.
Case presentation: We describe the case of a girl child, born of a consanguineous marriage, who, at birth, was noted to have flexion contractures of both knees and elbows as well as right clubfoot. Post-natally, she developed repetitive fractures of both femurs occurring with trivial trauma. She presented to us at the age 8.5 years, with short stature and inability to stand due to the severe knee flexion contractures. She also had flexion contractures at bilateral elbows. Intelligence and fine motor skills were normal. Sclerae, teeth and hearing were also normal. Radiographs revealed osteoporosis, severely deformed femora and vertebral body flattening. A diagnosis of Bruck syndrome was made on the basis of clinical findings. Genetic testing was offered, but declined by the child’s parents. She has since undergone osteotomies and rodding for both femurs, and bilateral distal femoral anterior hemi-epiphysiodesis for gradual correction of knee contractures. She is on cyclical pamidronate therapy to address bone fragility.
Conclusion: In this report, we describe the diagnostic features and management of this rare syndrome, and provide a summary of the existing literature on the disorder.
Keywords: Bruck syndrome, Osteogenesis imperfecta, Arthrogryposis, Congenital joint contractures, Bone fragility

References

1. Orpha.net. Bruck Syndrome. https://www.orpha.net/consor/cgibin/OC_Exp.php?lng=en&Expert=2771 Accessed 24th July 2020.
2. Sharma NL, Anand JS. Osteogenesis Imperfecta with Arthrogryposis Multiplex Congenita. J Indian Med Assoc. 1964;43:124–6.
3. Datta V, Sinha A, Saili A, Nangia S. Bruck syndrome. Indian J Pediatr. 2005;72(5):441–2.
4. Viljoen D, Versfeld G, Beighton P. Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome). Clin Genet. 1989;36(2):122–6.
5. Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet Part A. 2004;131A(2):115–20.
6. van der Slot AJ, Zuurmond A-M, Bardoel AFJ, Wijmenga C, Pruijs HEH, Sillence DO, et al. Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. J Biol Chem. 2003;278(42):40967–72.
7. Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, et al. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet Part A. 2011;155(6):1448–52.
8. Bank RA, Robins SP, Wijmenga C, Breslau-Siderius LJ, Bardoel AFJ, Van der Sluijs HA, et al. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proc Natl Acad Sci. 1999;96(3):1054–8.
9. Mokete L, Robertson A, Viljoen D, Beighton P. Bruck syndrome: congenital joint contractures with bone fragility. J Orthop Sci. 2005;10(6):641–6.
10. Breslau-Siderius EJ, Engelbert RHB, Pals G, van der Sluijs JA. Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. J Pediatr Orthop B. 1998;7(1):35–8.
11. Moravej H, Karamifar H, Karamizadeh Z, Amirhakimi G, Atashi S, Nasirabadi S. Bruck syndrome – a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. Endokrynol Pol. 2015;66(2):170–4.
12. Luce L, Casale M, Waldron S. A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability. Ochsner J. 2020;20(2):204–8.
13. Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, et al. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum. Hum Mutat. 2012;33(10):1444–9.
14. Boyce AM, Gafni RI. Approach to the Child with Fractures. J Clin Endocrinol Metab. 2011;96(7):1943–52.
15. Alman B, Goldberg MJ. Syndromes of Orthopaedic Importance. In: Lowell and Winter’s Pediatric Orthopaedics. 7th ed. Lippincott Williams & Wilkins; 2014. p. 266.
16. Otaify GA, Aglan MS, Ibrahim MM, Elnashar M, El Banna RAS, Temtamy SA. Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. Osteoporos Int. 2016;27(1):81–92.
17. Santana A, Oleas-Santillán G, Franzone JM, Nichols LR, Bowen JR, Kruse RW. Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up. Case Rep Orthop. 2019;2019:8014038.

How to Cite this Article:  Pinto AD, Vaidya SV | Bruck Syndrome (Bone Fragility with Congenital Joint Contractures): A Case Report. | September-December 2021; 7(3): 29-34.

(Article Text HTML)      (Full Text PDF)

10-Year Radiological Follow-Up of Multifocal Recurrent Eosinophilic Granuloma With Vertebra Plana: A Case Report and Review of Literature

Volume 4 | Issue 2 | July-December 2018 | Page: 32-36 | Amit Kumar, Shivam Sinha, Shyam Kumar Saraf, Vineeta Gupta, Deepa Rani, Jyoti Kumari

DOI- 10.13107/ijpo.2018.v04i02.016

Authors: Amit Kumar, Shivam Sinha, Shyam Kumar Saraf, Vineeta Gupta [1], Deepa Rani [2], Jyoti Kumari [3]

 

Departments of Orthopedics, [1] Pediatrics and, [2] Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, [3] Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

Address of Correspondence
Dr. Amit Kumar,
Department of Orthopaedics, Institute of Medical Sciences, Banaras Hindu University, Varanasi − 221 005, Uttar Pradesh, India.
E-mail: amit2k03@gmail.com

Abstract

Eosinophilic granuloma (EG) is the benign localized form of histiocytosis. Owing to the relative rarity of the condition, diagnosis is often delayed or missed, and many questions remain unanswered, ranging from cause and pathogenesis to therapy. Observation and immobilization are adequate for improvement of the condition in most patients. However, treatment other than simple observation is recommended in patients with symptomatic EG. This article presents a 10-year follow-up study of a 15-year-old girl with a symptomatic multifocal EG treated effectively by monitored chemotherapy and orthosis.
Keywords: Eosinophilic granuloma, langerhans cell histiocytosis, osteochondritis, osteogenesis imperfecta, tuberculosis, vertebra plana

References 

1. Willman CL, Busque L, Griffith BB, Favara BE, McClain KL, Duncan MH, et al. Langerhans histiocytosis (histiocytosis X): A clonal proliferative disease. New Engl J Med 1994;331:154-60.
2. Lichtenstein L. Histiocytosis X (eosinophilic granuloma of bone ‘Letterer-Siwe disease and Schuller-Christian disease’): Further observations of pathological and clinical importance. J Bone Joint Surg Am 1964;46:76-90.
3. Ladish S, Jaffe ES. The histiocytocis. In: Pizzo PA, Poplack DG, editors. Principles and Practices of Pediatric Oncology. Philadelphia: J. B. Lippincott Company; 1989. p. 491-504.
4. Huvos AG. Bone tumors. Diagnosis, Treatment and Prognosis. 2nd ed. Philadelphia: WB Saunders; 1990.
5. Sweasey TA, Dauser RC. Eosinophilic granuloma of the cervicothoracic junction. J Neurosurg 1989;71:942-4.
6. Nesbit ME Jr. Bone tumours in infants and children. Paediatrician 1972 /73;1:273-87.
7. Tanaka N, Fujimoto Y, Okuda T, Nakanishi K, Sumida T, Manabe H, et al. Langerhans cell histiocytosis of the atlas. A report of three cases. J Bone Joint Surg Am 2005;87:2313-7.
8. Dickinson LD, Farhat SM. Eosinophilic granuloma of the cervical spine. A case report and review of the literature. Surg Neurol 1991;35: 57-63.
9. Bertram C, Madert J, Eggers C. Eosinophilic granuloma of the cervical spine. Spine (Phila Pa 1976) 2002;27:1408-13.
10. Capanna R, Springfield DS, Ruggieri P, Biagini R, Picci P, Bacci G, et al. Direct cortisone injection in eosinophilic granuloma of bone: A preliminary report on 11 patients. J Pediatr Orthop 1985;5:339-42.
11. Garg S, Mehta S, Dormans JP. Langerhans cell histiocytosis of the spine in children long-term follow-up. J Bone Joint Surg Am 2004;86: 1740-50.
12. Bechan GI, Egeler RM, Arceci RJ. Biology of Langerhans cells and Langerhans cell histiocytosis. Int Rev Cytol 2006;254:1-43.
13. Egeler RM, Favara BE, van Meurs M, Laman JD, Claassen E. Differential in situ cytokine profiles of Langerhans-like cells and T cells in Langerhans cell histiocytosis: Abundant expression of cytokines relevant to disease and treatment. Blood 1999;94:4195-201.
14. Seimon LP. Eosinophil granuloma of the spine. J Pediatr Orthop 1981;1:371-6.
15. Brown CW, Jarvis JG, Letts M, Carpenter B. Treatment and outcome of vertebral Langerhans cell histiocytosis at the Children’s Hospital of Eastern Ontario. Can J Surg 2005;48:230-6.
16. Greenlee JD, Fenoy AJ, Donovan KA, Menezes AH. Eosinophilic granuloma in the pediatric spine. Pediatr Neurosurg 2007;43: 285-92.
17. Yeom JS, Lee CK, Shin HY, Lee CS, Han CS, Chang H. Langerhans’ cell histiocytosis of the spine. Analysis of twenty-three cases. Spine 1999;24:1740-9.
18. Plasschaert F, Craig C, Bell R, Cole WG, Wunder JS, Alman BA. Eosinophilic granuloma. A different behaviour in children than in adults. J Bone Joint Surg Br 2002;84:870-2.
19. Levy EI, Scarrow A, Hamilton RC, Wollman MR, Fitz C, Pollack IF. Medical management of eosinophilic granuloma of the cervical spine. Pediatr Neurosurg 1999;31:159-62.
20. Fernández-Latorre F, Menor-Serrano F, Alonso-Charterina S, Arenas- Jiménez J. Langerhans’ cell histiocytosis of the temporal bone in pediatric patients. AJR Am J Roentgenol 2000;174:217-21.
21. Kamimura M, Kinoshita T, Itoh H, Yuzawa Y, Takahashi J, Ohtsuka K. Eosinophilic granuloma of the spine: Early spontaneous disappearance of tumor detected on magnetic resonance imaging. J Neurosurg 2000;93(2 Suppl):312-6.
22. O’Donnell J, Brown L, Herkowitz H. Vertebra plana-like lesions in children: Case report with special emphasis on the differential diagnosis and indications for biopsy. J Spinal Disord 1991;4: 480-5.
23. Egeler RM, Thompson RC Jr, Voûte PA, Nesbit ME Jr. Intralesional infiltration of corticosteroids in localized Langerhans cell histiocytosis. J Pediatr Orthop 1992;12:811-4.
24. Grois N, Pötschger U, Prosch H, Minkov M, Arico M, Braier J, et al. Risk factors for diabetes insipidus in Langerhans cell histiocytosis. Pediatr Blood Cancer 2006;46:228-33.
25. Munn SE, Olliver L, Broadbent V, Pritchard J. Use of indomethacin in Langerhans cell histiocytosis. Med Pediatr Oncol 1999;32:247-9.
26. da Costa CE, Annels NE, Faaij CM, Forsyth RG, Hogendoorn PC, Egeler RM. Presence of osteoclast-like multinucleated giant cells in the bone and nonostotic lesions of Langerhans cell histiocytosis. J Exp Med 2005;201:687-93.
27. Raab P, Hohmann F, Kuhl J, Krauspe R. Vertebral remodelling in eosinophilic granuloma of the spine: A long-term follow-up. Spine 1998;23:1351-4.
28. KasteSC,Rodriguez-GalindoC,McCarvilleME,ShulkinBL.PET-CTin pediatric Langerhans cell histiocytosis. Pediatr Radiol 2007;37:615-22.
29. Lau LM, Stuurman K, Weitzman S. Skeletal Langerhans cell histiocytosis in children: Permanent consequences and health-related quality of life in long term survivors. Pediatr Blood Cancer 2008;50: 607-12. Kumar, et al.: Multifocal recurrent eosinophilic granuloma with vertebra plana : A case report 76

How to Cite this Article:  Kumar A, Sinha S, Saraf SK, Gupta V, Rani D, Kumari J | Year Radiological Follow-Up of Multifocal Recurrent Eosinophilic Granuloma With Vertebra Plana: A Case Report and Review of Literature | July-December 2018; 4(2): 32-36.
 

(Article Text HTML)      (Download PDF)