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.

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Introducing and Treating a Pediatric Monteggia Intermediate-Type 3 and 4 Fracture: A Case Report

Volume 7 | Issue 3 | September-December 2021 | Page: 50-52 | Pavan Soni, Tushar Agrawal

DOI-10.13107/ijpo.2021.v07i03.125

Authors: Pavan Soni  D Ortho. [1], Tushar Agrawal DNB Ortho. [1]

[1] Department of Orthopaedic, Aastha Hospital, Kandivali (W), Mumbai, Maharashtra, India.

Address of Correspondence
Dr Pavan Soni
Department of Orthopaedics, Aastha Hospital, Kandivali (W), Mumbai, Maharashtra, India.
E-mail: pavan.soni22@gmail.com

Abstract

Bado based his classification of Monteggia fractures on the direction of the radial head dislocation. We present a case of a Monteggia fracture that is an intermediary between Bado type 3 and 4 occurring in a 4-year-old Indian girl. It is a fracture of the proximal ulna and radial shaft, along with a lateral dislocation of the radial head that was treated with retrograde elastic nailing of the radius fist, then the ulna. Our case report is unique because this fracture pattern has not been presented earlier in literature. Interestingly, what presented as a both bone forearm fracture, on careful examination, was a Monteggia fracture. Our report aims to help other surgeons identify and treat this complex injury, in addition, increase awareness of this rare Monteggia variant.
Keywords: Monteggia, Paediatric forearm fractures, Elbow injuries

References

[1] Olney BW, Menelaus MB. Monteggia and equivalent lesions in childhood. Journal of pediatric orthopedics. 1989 Mar 1;9(2):219-23.
[2] Bado JL. 7 The Monteggia Lesion. Clinical Orthopaedics and Related Research (1976-2007). 1967 Jan 1;50:71-86.
[3] Ravessoud FA. Lateral condylar fracture and ipsilateral ulnar shaft fracture: Monteggia equivalent lesions?. Journal of pediatric orthopedics. 1985 May 1;5(3):364-6.
[4] Arazi M, Ögün TC, Kapicioglu MS. The Monteggia lesion and ipsilateral supracondylar humerus and distal radius fractures. Journal of orthopaedic trauma. 1999 Jan 1;13(1):60-3.
[5] Bhandari N, Jindal P. Monteggia lesion in a child: Variant of a Bado Type-IV lesion. A case report. JBJS. 1996 Aug 1;78(8):1252
[6] Rang, M., Pring, M. E., & Wenger, D. R. (2005). Rang’s children’s fractures.
[7] Gleeson AP, Beattie TF. Monteggia fracture-dislocation in children. Emergency Medicine Journal. 1994 Sep 1;11(3):192-4.

How to Cite this Article:  Soni P, Agrawal T | Introducing and Treating a Pediatric Monteggia Intermediate-Type 3 and 4 Fracture: A Case Report | International Journal of Paediatric Orthopaedics | September- December 2021; 7(3): 50-52.

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Temporary Transphyseal Medial Malleolar Screw Hemiepiphysiodesis for Acquired Ankle Valgus Following Fibular Graft Harvest in Children: A Series of 15 Patients

Volume 7 | Issue 3 | September-December 2021 | Page: 17-22 | Ankit Jain, Anil Agarwal, Nitish Bikram Deo, Ankur, Jatin Raj Sareen

DOI-10.13107/ijpo.2021.v07i03.117

Authors: Ankit Jain D. Ortho. [1], Anil Agarwal MS Ortho. [1], Nitish Bikram Deo MS Ortho. [1], Ankur MS Ortho. [1], Jatin Raj Sareen MS Ortho. [1]

[1] Department of Paediatric Orthopaedics, Chacha Nehru Bal Chikitsalaya, Delhi, India.

Address of Correspondence
Dr Anil Agarwal
Specialist, Department of Paediatric Orthopaedics, Chacha Nehru Bal Chikitsalaya, Delhi, India.
E-mail: anilrachna@gmail.com

Abstract

Purpose: To assess the role of temporary transphyseal medial malleolar screw hemiepiphysiodesis in cases of acquired ankle valgus following non-vascularized fibular harvest.
Methods: This retrospective chart review included 15 children (18 ankles). Exclusion criteria were inadequate records or additional procedures besides screw hemiepiphysiodesis. Radiological evaluations included lateral distal tibial angle (LDTA) and fibular station (Malhotra grade).
Results : The average patient age was 8.6 years at surgery. The overall duration of treatment was 18.2 months and post removal follow-up (5 ankles) was 16.6 months. The average correction rate was 0.48 degrees/ month. LDTA changed significantly following hemiepiphysiodesis (Pre-op 077.3 degrees/ in situ follow-up 85.9 degrees). The Malhotra grade did not change significantly during the same period. The average recurrence rate [noted in 4/5 patients] was 0.52 degrees per month. However, LDTA and Malhotra grade did not change significantly post removal.
Conclusions : We report the results of temporary transphyseal medial malleolar screw hemiepiphysiodesis for post fibular harvest acquired ankle valgus in children. Temporary hemiepiphysiodesis is a viable option for the correction of acquired ankle valgus in children. The fibular station is however not restored following the procedure. Recurrence of deformity following screw removal remains a worrying complication in some patients.
Keywords: Hemiepiphysiodesis, Ankle valgus, Growth modulation, Fibula, Harvest

References

1. Davids JR, Valadie AL, Ferguson RL, Bray EW 3rd, Allen BL Jr. Surgical management of ankle valgus in children: use of a transphyseal medial malleolar screw. J Pediatr Orthop. 1997;17:3-8.
2. Stevens PM, Belle RM. Screw epiphysiodesis for ankle valgus. J Pediatr Orthop. 1997;17:9-12.
3. Stevens PM, Kennedy JM, Hung M. Guided growth for ankle valgus. J Pediatr Orthop. 2011;31:878-83.
4. Aurégan JC, Finidori G, Cadilhac C, Pannier S, Padovani JP, Glorion C. Children ankle valgus deformity treatment using a transphyseal medial malleolar screw. Orthop Traumatol Surg Res. 2011;97:406-9.
5. Driscoll M, Linton J, Sullivan E, Scott A. Correction and recurrence of ankle valgus in skeletally immature patients with multiple hereditary exostoses. Foot Ankle Int. 2013;34:1267-73.
6. Driscoll MD, Linton J, Sullivan E, Scott A. Medial malleolar screw versus tension-band plate hemiepiphysiodesis for ankle valgus in the skeletally immature. J Pediatr Orthop. 2014;34:441-6.
7. Bayhan IA, Yildirim T, Beng K, Ozcan C, Bursali A. Medial malleolar screw hemiepiphysiodesis for ankle valgus in children with spina bifida. Acta Orthop Belg. 2014;80:414-8.
8. Chang FM, Ma J, Pan Z, Hoversten L, Novais EN. Rate of correction and recurrence of ankle valgus in children using a transphyseal medial malleolar screw. J Pediatr Orthop. 2015;35:589-92.
9. Rupprecht M, Spiro AS, Rueger JM, Stücker R. Temporary screw epiphyseodesis of the distal tibia: a therapeutic option for ankle valgus in patients with hereditary multiple exostosis. J Pediatr Orthop. 2011;31:89-94.
10. Rupprecht M, Spiro AS, Breyer S, Vettorazzi E, Ridderbusch K, Stücker R. Growth modulation with a medial malleolar screw for ankle valgus deformity. 79 children with 125 affected ankles followed until correction or physeal closure. Acta Orthop. 2015;86:611-5.
11. Rupprecht M, Spiro AS, Schlickewei C, Breyer S, Ridderbusch K, Stücker R. Rebound of ankle valgus deformity in patients with hereditary multiple exostosis. J Pediatr Orthop. 2015;35:94-9.
12. Westberry DE, Carpenter AM, Thomas JT, Graham GD, Pichiotino E, Hyer LC. Guided growth for ankle valgus deformity: the challenges of hardware removal. J Pediatr Orthop. 2020;40:e883-e888.
13. Gaukel S, Leu S, Skovguard SR, Aufdenblatten C, Ramseier LE, Vuille-Dit-Bille RN. Temporary screw epiphysiodesis for ankle valgus in children. Acta Orthop Belg. 2020;86:e supplement 37-43.
14. Steinlechner CW, Mkandawire NC. Non-vascularised fibular transfer in the management of defects of long bones after sequestrectomy in children. J Bone Joint Surg Br. 2005;87:1259-63.
15. Agarwal A, Kumar D, Agrawal N, Gupta N. Ankle valgus following non-vascularized fibular grafts in children-an outcome evaluation minimum two years after fibular harvest. Int Orthop. 2017;41:949-955.
16. Agarwal A. The regeneration at non vascularized fibular harvest site and development of ankle valgus in donor leg-investigations done over two time points. J Clin Orthop Trauma. 2019;10:999-1003.
17. Agarwal A. Fibular donor site following non vascularized harvest: clinico-radiological outcome at minimal five year follow-up. Int Orthop. 2019;43:1927-31.
18. Goh JCH, Mech AMI, Lee EH, et al. Biomechanical study on the load-bearing characteristics of the fibula and the effects of the fibular resection. Clin Orthop 1992;279:223-8.
19. González-Herranz P, del Río A, Burgos J, López-Mondejar JA, Rapariz JM. Valgus deformity after fibular resection in children. J Pediatr Orthop. 2003;23:55-9.
20. Babhulkar SS, Pande KC, Babhulkar S. Ankle instability after fibular resection. J Bone Joint Surg Br. 1995:77:258-61.
21. Kang SH, Rhee SK, Song SW, Chung JW, Kim YC, Suhl KH. Ankle deformity secondary to acquired fibular segmental defect in children. Clin Orthop Surg. 2010;2:179-85.
22. Van der Veen FJ, Strackee SD, Besselaar PP. Progressive valgus deformity of the donor-site ankle after extraperiosteal harvesting the fibular shaft in children. Treatment with osteotomy and synostosis at one session. J Orthop. 2014;12 (Suppl 1):S94-S100.
23. Lesiak AC, Esposito PW. Progressive valgus angulation of the ankle secondary to loss of fibular congruity treated with medial tibial hemiepiphysiodesis and fibular reconstruction. Am J Orthop (Belle Mead NJ). 2014;43:280-3.
24. Iamaguchi RB, Fucs PM, da Costa AC, Chakkour I. Vascularised fibular graft for the treatment of congenital pseudarthrosis of the tibia: long-term complications in the donor leg. Int Orthop. 2011;35:1065-70.
25. Fragnière B, Wicart P, Mascard E, Dudousset J (2003) Prevention of ankle valgus after vascularized fibular grafts in children. Clin Orthop Relat Res. 2003;408:245-51.
26. Sulaiman AR, Wan Z, Awang S, Che Ahmad A, Halim AS, Ahmad Mohd Zain R. Long-term effect on foot and ankle donor site following vascularized fibular graft resection in children. J Pediatr Orthop B. 2015;24:450-5.
27. Malhotra D, Puri R, Owen R. Valgus deformity of the ankle in children with spina bifida aperta. J Bone Joint Surg Br. 1984;66:381-5.
28. Gilbert A, Brockman R. Congenital pseudarthrosis of the tibia. Long-term followup of 29 cases treated by microvascular bone transfer. Clin Orthop Relat Res. 1995;314:37-44.
29. Frick SL, Shoemaker S, Mubarak SJ. Altered fibular growth patterns after tibiofibular synostosis in children. J Bone Joint Surg Am. 2001;83:247-54.

How to Cite this Article:  Jain A, Agarwal A, Deo NB, Ankur, Sareen JR | Temporary Transphyseal Medial Malleolar Screw Hemiepiphysiodesis for Acquired Ankle Valgus following Fibular Graft Harvest in Children: A Series of 15 Patients | International Journal of Paediatric Orthopaedics | September-December 2021; 7(3): 17-22.

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Osteoid Osteoma; A Diagnostic Protocol and Treatment with Computed Tomography Guided Radio Frequency Ablation in a Series of 36 Patients.

Volume 7 | Issue 3 | September-December 2021 | Page: 13-16 | Sandeep Patwardhan, Arkesh Madegowda, Ashok Shyam, Parag Sancheti

DOI-10.13107/ijpo.2021.v07i03.116

Authors: Sandeep Patwardhan MS Ortho. [1], Arkesh Madegowda MS Ortho. [1], Ashok Shyam MS Ortho. [1, 2], Parag Sancheti MS Ortho. [1]

[1] Department of Paediatric Orthopaedics, Sancheti Institute for Orthopaedics and Rehabilitation, Pune, Maharashtra, India.
[2] Department of Research, Indian Orthopaedic Research Group, Thane (W), Maharashtra, India.

Address of Correspondence
Dr Arkesh Madegowda
Department of Paediatric Orthopaedics, Sancheti Institute for Orthopaedics and Rehabilitation, Pune, Maharashtra, India.
E-mail: dr.arkesh@gmail.com

Abstract

Background and purpose: Osteoid osteoma (OO) constitutes 10-12% of all benign bone tumours making it one of the most commonly occurring bone tumour. Radiofrequency ablation (RFA) offers a minimally invasive day care treatment option where in the tumour cells in the nidus are thermo-coagulated. The purpose of this study is to highlight the diagnostic protocol of OO and evaluate the safety and efficacy of RFA in its treatment.
Methods: A total of 36 patients (26 male, 10 female patients; mean age 10.33 years; age range 4-20 years) who underwent Computerized tomography (CT) guided RFA treatment for osteoid osteoma of various anatomical locations were included in this study. Patients underwent radiography and CT evaluation for diagnosis. When classical symptoms were absent and CT was inconclusive, patients underwent further evaluation with magnetic resonance imaging (MR) and nuclear scan. Features suggestive of OO in any two of these investigations was considered confirmatory and such patients were offered RFA. Patients were assessed for abolition of pain after treatment and complications if any were recorded.
Results: The intra nidus location of probe which was considered as technical success was noted in all patients. There was significant improvement in pain after RFA. Visual Analogue Scale (VAS) score improved from 7.2 preoperatively to 0.6 and 0.0 at 3 months and 6 months respectively. Two patients of tibia OO had superficial skin burns that healed within 2 weeks. One patient sustained tibia fracture at RFA site after a fall and but was pain free after 20 weeks. At the latest follow up of 28 months (range 14-56 months), there were no recurrences.
Conclusion: Diagnosis of osteoid osteoma may be challenging at times and additional investigations like MRI/nuclear bone scan along with radiography and CT aid in making an appropriate diagnosis. CT guided radiofrequency ablation of osteoid osteoma is a safe, effective and minimally invasive treatment modality with low complication rates.
Keywords: Osteoid osteoma, Computed tomography guided, Radiofrequency ablation, Minimally invasive, Day care.

References

1. Iyer RS, Chapman T, Chew FS. Pediatric bone imaging: diagnostic imaging of osteoid osteoma. AJR. 2012;198(5):1039e1052.
2. D. C.Dahlin andK. K. Unni, Bone Tumours: General Aspects and Data on 8542 Cases, Springfield: III:Thomas, 4th edition, 1987.
3. Widmann G., Schullian P., Fasser M., Niederwanger C., & Bale R. (2013). CT-guided stereotactic targeting accuracy of osteoid osteoma. The International Journal of Medical Robotics + Computer Assisted Surgery: MRCAS, 9(3), 274-279.
4. Atesok KI, Alman BA, Schemitsch EH, Peyser A, Mankin H. Osteoid osteoma and osteoblastoma. J Am Acad Orthop Surg. 2011 Nov;19(11):678-89.
5. Carneiro BC, Da Cruz IAN, Ormond Filho AG, Silva IP, Guimarães JB, Silva FD, Nico MAC, Stump XMGRG. Osteoid osteoma: the great mimicker. Insights Imaging. 2021 Mar 8;12(1):32.
6. Cantwell C. P., Obyrne J., & Eustace S. (2004). Current trends in treatment of osteoid osteoma with an emphasis on radiofrequency ablation. European Radiology, 14(4), 607-617.
7. De Filippo M, Russo U, Papapietro VR, Ceccarelli F, Pogliacomi F, Vaienti E, Piccolo C, Capasso R, Sica A, Cioce F, Carbone M, Bruno F, Masciocchi C, Miele V. Radiofrequency ablation of osteoid osteoma. Acta Biomed. 2018 Jan 19;89(1-S):175-185.
8. Muneeb A, Solbiati L, Brace CL, et al. Image-guided tumour ablation: standardization of terminology and reporting criteria – a 10-year update. Radiology.2014;273(1):241e260.
9. Mankin HJ: Osteoid osteoma and osteoblastoma: Two related bone tumours, in Great Educator Series: Pathophysiology of Orthopaedic Diseases. Rosemont, IL, American Academy of Orthopaedic Surgeons, 2009, vol 2, pp 79-85.
10. Rosenthal DI, Hornicek FJ, Wolfe MW, Jennings LC, Gebhardt MC, Mankin HJ: Percutaneous radiofrequency coagulation of osteoid osteoma compared with operative treatment. J Bone Joint Surg Am 1998;80(6):815-821.
11. Rosenthal DI, Hornicek FJ, Wolfe MW, Jennings LC, Gebhardt MC, Mankin HJ: Decreasing length of hospital stay in treatment of osteoid osteoma. Clin Orthop Relat Res 1999;(361):186-191.
12. Rosenthal DI, Hornicek FJ, Torriani M, Gebhardt MC, Mankin HJ: Osteoid osteoma: Percutaneous treatment with radiofrequency energy. Radiology 2003; 229(1):171-175.
13. Nijland H, Gerbers JG, Bulstra SK, Overbosch J, Stevens M, Jutte PC. Evaluation of accuracy and precision of CT-guidance in Radiofrequency Ablation for osteoid osteoma in 86 patients. PLoS One. 2017 Apr 6;12(4):e0169171.
14. Peyser A, Applbaum Y, Simanovsky N, Safran O, Lamdan R: CT-guided radiofrequency ablation of pediatric osteoid osteoma utilizing a water-cooled tip. Ann Surg Oncol 2009;16(10):2856- 2861.
15. Sahin C, Oc Y, Ediz N, Altınay M, Bayrak AH. The safety and the efficacy of computed tomography guided percutaneous radiofrequency ablation of osteoid osteoma. Acta Orthop Traumatol Turc. 2019 Sep;53(5):360-365.
16. Oc Y, Kilinc BE, Cennet S, Boyacioglu MM, Ertugrul R, Varol A. Complications of Computer Tomography Assisted Radiofrequency Ablation in the Treatment of Osteoid Osteoma. Biomed Res Int. 2019 May 15;2019:4376851.
17. Ankory R, Kadar A, Netzer D, Schermann H, Gortzak Y, Dadia S, Kollander Y, Segal O. 3D imaging and stealth navigation instead of CT guidance for radiofrequency ablation of osteoid osteomas: a series of 52 patients. BMC Musculoskelet Disord. 2019 Dec 1;20(1):579.
18. Scipione R, Anzidei M, Bazzocchi A, Gagliardo C, Catalano C, Napoli A. HIFU for bone metastases and other musculoskeletal applications. Semin Intervent Radiol. 2018;35(4):261e267.
19. Kishore S, Kothary N, Lugren M, Mohler D, Avedian R, Ghanouni P. Treatment of osteoid osteoma using MR guided high intensity focussed ultrasound: preliminary results after four patients. J Vasc Interv Radiol.
20. Yarmolenko PS, Eranki A, Partanen A, et al. Technical aspects of osteoid osteoma ablation in children using MR-guided high intensity focussed ultrasound. Int J Hyperthermia. 2018;34(1):49e58.

How to Cite this Article:  Patwardhan S, Madegowda A, Shyam A, Sancheti P | Osteoid Osteoma; A Diagnostic Protocol and Treatment with Computed Tomography- Guided Radio Frequency Ablation in a Series of 36 Patients | International Journal of Paediatric Orthopaedics | September- December 2021; 7(3): 13-16.

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Osseous Manifestation of Systemic Mastocytosis in a Paediatric Bone Scan: A Case Report

Volume 7 | Issue 3 | September-December 2021 | Page: 46-49 | Nurnadiah A Denil, Siti Zarina A Hassan

DOI-10.13107/ijpo.2021.v07i03.124

Authors: Nurnadiah A Denil MMed Nucl. Med. [1], Siti Zarina A Hassan MMed Nucl. Med. [1]

[1] Department of Nuclear Medicine, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.

Address of Correspondence
Dr Nurnadiah A Denil
Department of Nuclear Medicine, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
E-mail: nadiahdenil@yahoo.com

Abstract

Systemic mastocytosis is a rare disorder of the mast cells with a wide spectrum of clinical manifestations depending on the organs involved.
We report a case illustrating the role of Tc-99m hydroxyl diphosphonate (HDP) to assist in diagnosing systemic mastocytosis in a 4-year-old girl who presented right thigh pain and intermittent fever. She initially presented with right thigh pain. The findings of the radiograph of the lower limbs were unremarkable. MRI of the right femur showed heterogenous intramedullary signal within the right femur, involving the diaphysis and metaphyseal region. Based on the radiographs and MRI changes, the differential diagnosis of disseminated acute osteomyelitis was made. Bone scan with Tc-99 hydroxy diphosphonate (HDP) performed showed diffuse skeletal uptake involving the appendicular and axial skeleton. Bone biopsy of the femur showed the presence of mast cell infiltration.
Diagnosing systemic mastocytosis remains challenging due to the contradictory results of available imaging modalities. When interpreting a focal or diffuse uptake on bone scintigraphy, systemic mastocytosis should be considered, particularly in the paediatric age group.
Keyword: Systemic mastocytosis, Tc-99m bone scintigraphy

References

1. Arrington ER, Eisenberg B, Harthshorne MF. Nuclear Medicine Imaging of Systemic Mastocytosis. J Nuclear Med (1989) 30: 2046-2048. (1989).
2. Fritz J, Fishman EK. Advanced imaging of skeletal manifestations of systemic mastocytosis. Skeletal Radiol (2012) 41; 887-897.
3. Frieri, M, Quershi, M. Pediatric Mastocytosis: A review of the literature. Pediatric allery, immunology and pulmonology (2013) Volume 26, number 4
4. Zettinig G, Becherer A, Szabo M, Uffmann M, Dudczak R, Valent P. FDG positron emission tomography in patients with systemic mastocytosis. AJR Am J Roentgenol. (2002);179:1235–7.
5. Pieri L, Bona Donna P, Elena C et.al, Clinical presentation and management practice of systemic mastocytosis. A survey of 460 Italian patients. Am J Hematol (2016) Apr 7.
6. Chen CC.; Andrich MP., Mican JM. A retrospective analysis of Bone Scan Abnormalities in Mastocytosis: Correlation with Disease Category and Prognosis. J Nucl Med (1994) 35; 1471-1475.
7. Lawrence JB, Friedman BS, Travis WD. Hematologic manifestations of systemic mast cell disease: a prospective study of laboratory and morphologic features and their relation to prognosis. Am J Med (1991) dec;91 (6): 612-24.

How to Cite this Article:  Denil NA, Hassan SZA | Osseous Manifestation of Systemic Mastocytosis in a Paediatric Bone Scan: A Case Report | International Journal of Paediatric Orthopaedics | September- December 2021; 7(3): 46-49.

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Sternal Tuberculosis in an Infant: The Presenting Feature of Disseminated Disease

Volume 7 | Issue 3 | September-December 2021 | Page: 42-45 | Vikas R. Basa, Raghavendraswami Thete, Tanu Singhal

DOI-10.13107/ijpo.2021.v07i03.123

Authors: Vikas R. Basa DNB Orth. [1], Raghavendraswami Thete DNB Orth. [1], Tanu Singhal MD Paediatrics, MSc Infectious Disease [1]

[1] Department of Pediatric Orthopedics, Centre for Bone and Joint, Kokilaben Dhirubhai Ambani Hospital & Medical Research Center, Mumbai, Maharashtra, India.
[2] Department of Paediatrics, Kokilaben Dhirubhai Ambani Hospital & Medical Research Institute, Mumbai, Maharashtra, India.

Address of Correspondence
Dr Vikas R Basa
Consultant Pediatric Orthopedics, Centre for Bone and Joint, Kokilaben Dhirubhai Ambani Hospital & Medical Research Center, Mumbai, Maharashtra, India.
E-mail: basavikas@gmail.com

Abstract

We report here the case of a 9 month old previously healthy female infant who presented with a swelling over the anterior chest wall. Radiologic, histopathology and microbiologic tests confirmed it as a case of sternal tuberculosis. The sternal disease improved after starting anti-tubercular therapy but she then developed seizures due to a paradoxical reaction leading to unmasking of a brain tuberculoma. She is well after 1 year therapy. The case is presented in view of rarity of musculoskeletal tuberculosis in infants and even rarer phenomenon of sternal involvement.
Keywords: Infant, Sternal tuberculosis, Tuberculoma

References

1. Held MFG, Hoppe S, Laubscher M, Mears S, Dix-Peek S, Zar HJ, Dunn RN. Epidemiology of Musculoskeletal Tuberculosis in an Area with High Disease Prevalence. Asian Spine J. 2017 Jun;11(3):405-411.
2. WALLGREN A. The time-table of tuberculosis. Tubercle. 1948 Nov;29(11):245-51.
3. Behr MA, Edelstein PH, Ramakrishnan L. Revisiting the timetable of tuberculosis. BMJ. 2018 Aug 23;362:k2738.
4. Rodrigues LC, Diwan VK, Wheeler JG. Protective effect of BCG against tuberculous meningitis and miliary tuberculosis: a meta-analysis. Int J Epidemiol. 1993 Dec;22(6):1154-8. doi: 10.1093/ije/22.6.1154. PMID: 8144299.
5. Saifudheen K, Anoop TM, Mini PN, Ramachandran M, Jabbar PK, Jayaprakash R. Primary tubercular osteomyelitis of the sternum. Int J Infect Dis. 2010 Feb;14(2):e164-6.
6. Mushkin AIu, Maliarova EIu, Dzhankaeva OB, Kirillova ES, Il’ina NA. Tuberculosis of the sternum in children]. Vestn Khir Im I I Grek. 2010;169(2):52-6.
7. Sharma S, Juneja M, Garg A. Primary tuberculosis osteomyelitis of the sternum. Indian J Pediatr 2005; 72: 709-10.
8. Joshi P, Bavdekar SB, Save SU. A Swelling over Sternum in a Child: Reminder of an Uncommon Diagnosis. Case Rep Pediatr. 2016;2016:3765786.
9. Bohl JM, Janner D. Mycobacterium tuberculosis sternal osteomyelitis presenting as anterior chest wall mass. Pediatr Infect Dis J 1999; 18: 1028-9.
10. Kutty S, Bennett D, Devitt A, Dowling FE. Tuberculous osteomyelitis of the sternum in an infant: a case report and review of the literature. Pediatr Int. 2002 Apr;44(2):186-8.
11. Kato Y, Horikawa Y, Nishimura Y, Shimoda H, Shigeto E, Ueda K. Sternal tuberculosis in a 9-month-old infant after BCG vaccination. Acta Paediatr 2000;89:1495—7.
12. Carazo Gallego B, Moreno-Pérez D, Nuñez Cuadros E, Mesa Fernandez A, Martin Cantero M, Obando Pacheco P, Urda Cardona A. Paradoxical reaction in immunocompetent children with tuberculosis. Int J Infect Dis. 2016 Oct;51:15-18.
13. Bell LC, Breen R, Miller RF, Noursadeghi M, Lipman M. Paradoxical reactions and immune reconstitution inflammatory syndrome in tuberculosis. Int J Infect Dis. 2015 Mar;32:39-45.
14. Wen H, Li P, Ma H, Lv G. Diagnostic accuracy of Xpert MTB/RIF assay for musculoskeletal tuberculosis: a meta-analysis. Infect Drug Resist. 2017 Sep 28;10:299-305.
15. Kumar A, Gupta D, Nagaraja SB, Singh V, Sethi GR, Prasad J; Indian Academy of Pediatric. Updated national guidelines for pediatric tuberculosis in India, 2012. Indian Pediatr. 2013 Mar;50(3):301-6.
16. Bains L, Lal P, Chand T, Gautam KK, Beg MY, Kumar P. Isolated primary cold abscess of the sternum: a case report. J Med Case Rep. 2019 Aug 25;13(1):267.

How to Cite this Article:  Basa VR, Thete R, Singhal T | Sternal Tuberculosis in an Infant: The Presenting Feature of Disseminated Disease | International Journal of Paediatric Orthopaedics | September- December 2021; 7(3): 42-45.

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