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CASE REPORT |
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Year : 2015 | Volume
: 8
| Issue : 4 | Page : 566-568 |
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Congenital pseudoarthrosis of tibia: A rare case report
Sonal Balwantsingh Thakur1, Ritesh Gopalsingh Bisen2, Anuja Gajanan Deshmukh1, Deepak Sudhir Joshi1
1 Department of Anatomy, Dr. SCGMC, Nanded, India 2 Department of Paediatrics, FPCC, Private Practioner, Maharashtra, India
Date of Web Publication | 14-Jul-2015 |
Correspondence Address: Sonal Balwantsingh Thakur C/O, Dr. Ritesh G. Bisen, Flat No. 301, Gurusai Apartment, Behind Shyam Talkies, Nanded, Maharashtra India
Source of Support: None, Conflict of Interest: None | Check |
DOI: 10.4103/0975-2870.160807
Congenital pseudoarthrosis (CPT) of the tibia is rare congenital anomaly occurring 1 in 190,000 live births. It is one of the rare causes of limb shortening. A 8-year-old male child born of consanguious marriage came to orthopedic OutPatient Department with history of significant shortening of left leg since birth so much, so that patient cannot use his left leg for walking. His right leg was normal. Family history of neurofibromatosis-I (NF-1) is present. History, photographs and X-rays were taken and patient was diagnosed as a case of CPT of the tibia. Significant association between CPT of tibia and NF-I has been found. The case is of significance to orthopedicians and pediatrician from the management point of view. Keywords: Displasia, pseudoarthrosis, tibia
How to cite this article: Thakur SB, Bisen RG, Deshmukh AG, Joshi DS. Congenital pseudoarthrosis of tibia: A rare case report. Med J DY Patil Univ 2015;8:566-8 |
Introduction | | |
Pseudo means false and arthrosis means joint formation. Congenital pseudoarthrosis (CPT) of the tibia is rare congenital anomaly. The incidence of it is one in 190,000 live births. [1] Although rare, CPT of the tibia poses one of the most challenging management problems in pediatric orthopedics. [2] It is characterized by deossification, bending, and pathological fracture, followed by inability to form a normal callus at fracture site. [3] Fifty-five percent cases of pseudoarthrosis are associated with neurofibromatosis-1 (NF-1) and 6% of patients with NF-1 develop pseudoarthrosis of the tibia. [2]
Clinical Summery | | |
An 8-year-old male child came to orthopedic outpatient department with history of significant shortening of left leg since birth and inability to use left leg for walking [Figure 1] and [Figure 2]. Patient is born of consanguineous marriage. Family history of the patient reveals that patient's father is known case of NF-I and his grandmother has brown patches over back (café au lait spots). Younger brother (6-year-old) [Figure 3] of the patient has a history of bowing of both legs. There is no any significant obstetric history. It was full term delivery by caesarean section due to cephalopelvic disproportion. Bony abnormality in left leg was noticed. Milestones were developed at appropriate for the age except walking.
On general examination, he is a healthy boy, afebrile with pulse-96/min, blood pressure-90/60 with no signs of pallor, icterus, clubbing. There are caféé au lait spots and the cutaneous neurofibroma on trunk [Figure 4] and [Figure 5]. Local examination shows bony discontinuity in left leg, while right leg is normal. Systemic examination is within normal limit. X-ray [Figure 6] of left leg shows bony discontinuity of both tibia and fibula, tapering ends of tibia and fibula and callus formation at the site of the deformity.
Discussion | | |
Congenital pseudoarthrosis is characterized by anterolateral bowing with tapering of tibia at defective sites. It may be due to intrauterine trauma, birth fracture, generalized metabolic disorder, vascular malformation and hereditary (genetic cause). [3] Fibula is affected in one-third of patients. It is a complex condition with failure of normal bone formation and subsequent angulation leading to fracture. There is dense cellular fibrous tissue with few vessels, normal callus does not form. [4] Significant genetic association between NF-I and bone pathology has been reported. [5] NF-I is due to mutation of gene coding for neurofibromin. Neurofibromin is expressed in a wide range of cells and tissues. Neurofibromin negatively regulates Ras activity (cell proliferation and function). Neurofibromin deficiency leads to increased Ras activity. It affects Ras-dependent MAPK activity which is essential for osteoclast function and survival. [5]
Wellwood et al. [3] found a similar case of CPT of the tibia in siblings with NF-I in London. This is a rare case of CPT of the tibia in siblings associated with NF-I cause for which is genetic. Patient fits into type IIC of crawford classification. [1] Younger brother of the patient (anterolateral bowing) fits into the type I of crawford classification. [1]
Despite multiple methods of treatment having been reported over several decades, outcomes are too frequently unsatisfactory, and both patients and surgeons are disappointed and frustrated by repeated ineffective operations, re-fracture after apparent union, and poorly functioning limbs resulting from multiple operations and the indefinite protective immobilization. [6] Aim of treatment is to achieve and maintain union simultaneously providing functional extremity. In the present case, patient was advised intramedullary stabilization but patient's parents refused treatment because of poor socioeconomic status and poor prognosis of surgery. Patient is now using artificial limb prosthesis.
References | | |
1. | Pannier S. Congenital pseudarthrosis of the tibia. Orthop Traumatol Surg Res 2011;97:750-61. |
2. | Vander Have KL, Hensinger RN, Caird M, Johnston C, Farley FA. Congenital pseudarthrosis of the tibia. J Am Acad Orthop Surg 2008;16:228-36. |
3. | Wellwood JM, Bulmer JH, Graff DJ. Congenital defects of the tibia in siblings with neurofibromatosis. J Bone Joint Surg Br 1971;53:314-9. |
4. | Boyd HB, Sage FP. Congenital pseudarthrosis of the tibia. J Bone Joint Surg Am 1958;40-A:1245-70. |
5. | Alwan S, Armstrong L, Joe H, Birch PH, Szudek J, Friedman JM. Associations of osseous abnormalities in neurofibromatosis 1. Am J Med Genet A 2007;143A:1326-33. |
6. | Johnston CE, Birch JG. A tale of two tibias: A review of treatment options for congenital pseudarthrosis of the tibia. J Child Orthop 2008;2:133-49. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
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