|Year : 1987 | Volume
| Issue : 2 | Page : 94-6
Cystic variety of osteogenesis imperfecta with ununited fractures (a case report).
VV Raut, SD Mehta
V V Raut
|How to cite this article:|
Raut V V, Mehta S D. Cystic variety of osteogenesis imperfecta with ununited fractures (a case report). J Postgrad Med 1987;33:94-6
|How to cite this URL:|
Raut V V, Mehta S D. Cystic variety of osteogenesis imperfecta with ununited fractures (a case report). J Postgrad Med [serial online] 1987 [cited 2020 Aug 3 ];33:94-6
Available from: http://www.jpgmonline.com/text.asp?1987/33/2/94/5285
Osteogenesis imperfecta of the cystic variety is an uncommon condition,,, especially so when it is associated with a strong tendency to cause non-union. Numerous classifications have been formulated to date for this condition but the features of the variant of oesteogenesis imperfecta that we came across did not match those of any of the classified varieties. The uniqueness of this case prompted us to present this report.
S.L.F., an 11 year old male child was admitted on 16-11-1985 in the department of orthopaedics at Rajawadi Municipal General Hospital, Bombay with complaints of multiple deformities involving both the upper and lower limbs over the past 10 years and abnormal mobility in the right arm and left thigh since the past 10 and 8 months respectively. There was a history of repeated multiple fractures with trivial trauma since the age of 6 months and the child had never been able to walk on his feet. The child was a full term normal delivery and there was no history of a similar condition in any of the siblings or on tracing the pedigree chart of either parent.
The child was very much stunted in height having prominent eyeballs but no blue sclera. The bridge of the nose was depressed and the head was large while the spine was short and the pelvis was small. Dentition and hearing were normal.
The long bones of all the 4 limbs were grossly deformed and irregularly thickened. Their metaphysial ends, especially the lower ends of the femur and the upper ends of the tibia, seemed abnormally enlarged. The right humerus in its lower ? and the left femur in its middle ? presented a frank pseudarthrosis, this occuring inspite of the conservative management received by these bones in the form of plaster immobilization elsewhere.
X-rays of long bones showed them to be thin, porotic and having multiple gross deformities with evidence of old healed or healing fractures but with no excessive callus formation. The right hurnerus [Fig. 1] in its lower ? showed pointed fracture ends with gap-pseudarthrosis and the left femur in its middle ? [Fig. 2] showed a frank pseudarthrosis with obliteration of the medullary cavity. The metaphysial ends of the femur and tibia at the knee were enlarged and showed speckling giving it a 'cystic' appearance. The spine was scoliotic with a partially correctable thoracolumbar major curve compensated by secondary curves above and below with no wedging or cod fishing of the vertebrae. The laboratory investigation reports viz. CBC, serum Ca, P, alkaline phosphatase, and renal chemistry were normal.
On 3-1-1986, a lateral wedge resection of the pseudarthrosis of the left femur was performed followed by an intramedullary Rush nailing after aligning the femoral fragments to correct the varoid deformity. Since it was decided to tackle the humerus later and in view of the absence of a bone bank, the resected pieces of bone were stored at the child's iliac crest in a subcutaneous pouch as an experimental procedure for 1 month. The child was placed post-operatively in a hip spica. One month later, on 31 1-1986, the ununited fracture in the right humerus was operated upon by freshening the fracture surfaces and aligning with a Rush nail and the 1 month old stored auto-grafts were utilised here. The child's pelvis and bones were too small and atrophic to obtain any graft from elsewhere for the humerus. Post-operatively, the right arm was placed in a shoulder spica. At both these sites there was no evidence of any soft tissue interposition as being the cause of the pseudarthrosis. On 21-2-1986, the varoid deformity of the right femur was corrected by performing a lateral wedge resection at the mid-shaft level with intra-medullary Rush nailing followed again by hip spica. Here, some bone tissue examined histopathologically was found to be normal. Follow-up of this child in June, 1986 showed the right humeral fracture to have undergone further atrophic changes with no evidence of any attempt at healing, thus indicating that the stored bone grafts of the child had not served any purpose. The left femur also did not show any positive evidence of union but it had not undergone any atrophic changes. On the other hand, the right femoral osteotomy had completely united in a much shorter time. The patient has now been discharged with spica for the left femur and a leather corset for the right humerus as a permanent arthrosis.
Osteogenesis imperfecta is one of the types of bone dysplasias in which the defect is too little production of osteoid. The general features of osteogenesis imperfecta viz. fragile bones with multiple fractures which heal within normal time with normal or exuberrant callus, multiple deformities of long bones, blue sclerae, dentinogenesis imperfecta, scoliosis and deafness have been well documented,, but gradually certain variants in presentation were noticed and this has resulted into the numerous classifications given from time to time.,,,,
The autosomal recessive severe variety of patients is basically rare. Such patients have large eyeballs, depressed nasal bridge (like the present case) with thick and short long bones and the affected infants are usually born dead or survive maximum for a few months. A rare patient may survive possibly even to adulthood and such cases may develop cystic changes at the ends of long bones but the fracture union rate is normal. In the autosomal dominant mild variety, the bones are thin, tubular or normal in calibre with very few fractures and the patients have a fairly good life-span but a few of these patients have a tendency to pseudarthrosis formation. An extremely rare case of the autosomal dominant variety may, at times, show cystic changes at the metaphyses of long bones in older children.
Recently, Sillence classified osteogenesis imperfecta into Types I to IV, I and IV being dominant and accounting for more than 70% of all the cases. Type II is autosomal recessive with a very high mortality rate. Type III is an extremely rare autosomal recessive variety, if the patient survives to adult life, he is then the smallest of all patients of osteogenesis imperfecta and it is this type that sometimes shows metaphyseal flaring with cystic changes. The present patient was of the tarda variety with either a sporadic or autosomal recessive inheritance (as there was no family history). The clinical features fit into the rare severe recessive variety which survives the early years of life and develops cystic changes in the long bones. Thus, this patient belonged to the rare cystic variety of Fairbank but the feature which perplexed us was the tendency to pseudarthrosis which rarely presents in osteogenesis imperfecta, and is seen in the autosomal dominant mild variety. As far as the classification of Sillence is concerned, this case belongs to the Type III variety but again Sillence makes no mention of the incidence of non-unions. Thus, the present case is a further variant of osteogenesis imperfecta which does not fix convincingly into any of the classifications put forth so far. The patient could not stay in Bombay, enough to let us follow-up till the final outcome. It is difficult to predict whether union in one bone will allow the patient weight bearing which he has never done since birth.
|1||Bauze, R. J., Smith, R. and Francis, M. J. O.: A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of 42 patients. J. Bone & Joint Surg., 57B:2-12, 1975.|
|2||Fairbank, H. A. T.: Osteogenesis imperfecta and osteogenesis imperfecta cystica. J. Bone & Joint Surg., 30B: 164-186, 1948.|
|3||Fairbank, H. A. T.: "An Atlas of General Affections of the Skeleton." The Williams and Wilkins Company, Baltimore.1951.|
|4||Fairbank, H. A. T. and Baker, S. L.: Hyperplastic callus formation with or without evidence of a fracture in ostsogenesis imperfecta with account of histology. Brit. J. Surg., 36: 1-16, 1948.|
|5||Falvo, K. A., Root, L. and Bullough, P. G.: Osteogenesis imperfecta; Clinical evaluation and management. J. Bone &. Joint Surg., 56A: 783-793, 1974.|
|6||Sherrard, W. J. W.: General abnormalities of skeletal development. In, "Paediatric Orthopaedics and Fractures." Vol. 1, 2nd Edition, Blackwell Scientific Publications, Oxford, London, Edinburgh and Melbourne, 1979, pp. 139-148.|
|7||Sillence, D. O.: Osteogenesis imperfecta: An expanding panorama of variants, Clin. Orthop. & Rel. Res., 159: 11-25, 1981.|
|8||Sillence, D. O. and Rimgin, D. L.: Classification of osteogenesis imperfecta (Letter). Lancet, 1: 1041-1042, 1978.|
|9||Wyne-Davis, R. and Gormley, J.: Clinical and genetic patterns in osteogenesis imperfecta. Clin. Orthop. & Rel-Res., 159:26-35, 981.|