Indian Pediatr 2011;48: 637-639
Management of Lower Limb Deformities in
Children with Osteogenesis Imperfecta
Satvinder Kaur, Ketan Prasad Kulkarni, *Inderpal Singh Kochar and
Departments of Pediatrics, *Pediatric Endocrinology, and †Pediatric
Orthopedics, Apollo Center for Advanced Pediatrics, Indraprastha Apollo
Hospital, New Delhi, India.
Correspondence to: Dr Inderpal Singh Kochar, Senior
Consultant, Pediatric Endocrinologist, Apollo Center for Advanced
Pediatrics, Sarita Vihar, New Delhi 110 076, India.
Received: October 06, 2010;
Initial review: October 22, 2010;
Accepted: December 10, 2010.
Osteogenesis imperfecta (OI) often leads to severe
lower limb (LL) deformities due to recurrent fractures that
significantly hamper ambulation. We describe our management experience
of correction of LL deformities in four children with OI. Medical
management consisted of peri and postoperative pamidronate therapy,
calcium supplementation and rehabilitative care. Deformities were
corrected with multiple osteotomies and intramedullary fixation by
titanium elastic nails. At a mean follow-up of 30 months, all children
have significantly reduced fracture incidence and have no evidence of
recurrence of deformities with improved ambulatory status. We emphasize
the importance of combined medical and surgical therapy for these
Key words: Bisphosphonates, Deformities, Management,
steogenesis imperfecta (OI) is a group of heterogenous disorders
characterized by increased bone fragility, multiple fractures, deformities
and osteopenia . The treatment of lower limb deformities in OI prevails
to be a therapeutic challenge requiring multidisciplinary management to
improve function and quality of life [1,2]. Surgical correction of
deformities and stabilization of long bones using an intramedullary
fixation (IF) device has proven to be an effective measure [1,3]. However,
data from India addressing these deformities in OI patients is scant. In
this study, we describe our management experience using combined medical
and surgical modalities with a good outcome.
The case records of OI children presenting with lower
limb deformities over a period of two years from June 2007 to June 2009
were retrieved. Diagnosis of OI was based on clinical and radiological
characteristics. Initial assessment included serum calcium, phosphorus,
alkaline phosphate and vitamin D levels. Anteroposterior and lateral
radiographs of lower limbs were performed for assessment of deformities.
Additionally, bone mineral density was evaluated by dual energy X-ray
absorptiometry (DEXA) of the lumbar spine. Pre and post therapy ambulatory
status was graded according to the modified Hoffer and Bullock’s
classification . The annual fracture rate was calculated based on
historical and follow-up data. The conduct of the study was approved by
the Hospital Ethics Committee.
All patients received medical (pre and postoperative)
and surgical therapy. Preoperative management constituted calcium
supplementation, supportive care and nutritional rehabilitation.
Pamidronate was administered preoperatively at a dose of 1 mg/kg body
weight for 3 days. Open reduction and deformity correction by multiple
osteotomies was performed followed by intra-medullary fixation of implants
by ‘Seekh-Kabab’ method. Intramedullary implants used were titanium
elastic nails (TEN). The nails were inserted under C-ARM guidance and
appropriate position was confirmed postoperatively using the same.
Postoperatively plaster immobilization was done for 6 weeks. After the
osteotomies united, ambulation with the aid of crutches was encouraged and
patients were started on a rehabilitation programme. Pamidronate was
continued at a dose of 1 mg/kg/day for 3 days in 3 monthly cycles starting
3 weeks after surgery for 1 year. Regular bone studies were performed
after each pamidronate infusion. All cases were followed up clinically and
radiologically regarding deformity correction, mobility status,
re-fracture, infection, nail migration, breakage and bending of nails.
There were four male OI children with a mean age of 7.3
(range 6-10) years. All presented with unilateral or bilateral femoral
and/or tibial bowing with history of multiple fractures after trivial
trauma since early childhood and blue sclera. There were no other
extraskeletal manifestations. Family history was present in two of them.
The ambulatory grade ranged from 3b to 4 (Table I). DEXA
Z-score was suggestive of severe osteoporosis (range 5.68-3.01). In
our series of four patients, the following deformities were surgically
corrected: 1 bilateral femur with unilateral tibia, 1 bilateral femurs, 2
unilateral femur and unilateral tibia.
Response to Therapy in 4 Patients
AFR: Annual fracture
Radiological correction of angular deformities was
good. In one, there was a cut-through of the tibia fixation requiring
re-do surgery and fixation. The other complications encountered were
backing out of femoral nails in 2 patients after 6 months to 1 year of
surgery. The nails were re-positioned without any further problem. Bony
reunion occurred in all. At a mean follow-up of 30 months, the patients
have reduced incidence of fractures (annual fracture rate of zero), better
bone densities, no recurrence of deformities and improved quality of life
(Table I). The children as well as parents are satisfied
with their overall progress and improvement in ambulatory status.
Recent advents in medical and surgical therapy have led
to low fracture incidence and improved function and quality of life in OI
children [1,5]. However, there is limited information available regarding
the medical and surgical management of lower limb deformities in children
with OI from India.
As bisphosphonates do not cause resolution of
pre-existing bony deformities, the preferred treat-ment of correction of
lower limb deformities is IF [1,2]. Data pertaining to the surgical
management of OI children is available from a single centre of India where
bisphosphonates were not used . There are reports addressing the
effect of bisphosphonates on reduction in fracture rate in OI children
from India [7,8]. However, none of them studied their effect in correction
of LL deformities as an adjuvant to surgery.
The use of bisphosphonates can be substantiated by the
fact that they reduce bone turnover and thereby, increase cortical bone
density. As observed by us, bisphosphonates allow safer and more
efficacious surgical management of OI children and also reduces future
incidence of fractures. The timing of bisphosphonate treatment relative to
surgery is important and it may improve prognosis in severe forms . In
a study from Egypt, authors have advocated the role of combined approach
(surgical and medical treatment) and both pre-operative and post-operative
pamidronate for these patients .
We used TEN due to its easy availability and utility in
IF. Other implants were not available and if available, the sizes were not
suitable for younger children. Elongating nails allow for growth of the
bone and decrease the number of repeat operations . TEN is not an
expandable nail. However, TENs were used to keep as an internal splint for
a couple of years till the effects of medical treatment kicked in and
prevented further fractures. Additionally, focus was laid on gentle
physiotherapy initially, followed by muscle strengthening exercises and
gait training later. The advantage of TEN lies in its flexibility which
plays an important role in the correction of complex deformities. The
disadvantage is absence of secure fixation at times leading to backing of
the nail, as was observed in two cases.
Although having a short follow-up with a modest sample
size, our experience with this combined medical and surgical management
seems promising in terms of successful rehabilitation of these children in
Contributors: SK and KPK managed patients,
extracted data, reviewed literature and drafted the manuscript. IPK and
RN: study design, patient management and critical review of manuscript.
IPK will act as guarantor of the study. Final manuscript was approved by
Competing interests: None stated.
What This Study Adds?
• Combined medical and surgical modalities are
feasible options in India for correction of lower limb deformities
in children with osteogenesis imperfecta.
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