The Journal of Arthroplasty Vol. 27 No.

8 2012

Case Report

Total Knee Arthroplasty in Osteopetrosis Using

Patient-Specific Instrumentation
Stephanie W. Mayer, MD, Kevin T. Hug, BS, Benjamin J. Hansen, MD,
and Michael P. Bolognesi, MD

Abstract: Osteopetrosis is an uncommon endocrine disease characterized by defective osteoclast

resorption of bones. This causes a hard, sclerotic, and brittle bone throughout the skeleton.
Fractures and unforgiving subchondral bone are common in this condition, both of which can
lead to osteoarthritis. Total knee arthroplasty is often the treatment of choice but presents
challenges due to the hard and sclerotic bone present throughout the metaphysis and diaphysis of
the femur and the tibia. We present a case of knee osteoarthritis in a patient with osteopetrosis
who underwent total knee arthroplasty using patient-specific instrumentation. This technique
eliminates intramedullary alignment and minimizes drilling, reaming, and saw passes, making it
attractive in the setting of diseases such as osteopetrosis to decrease operative time and potential
complications. Keywords: total knee arthroplasty, osteopetrosis, patient-specific instrumentation.
© 2012 Elsevier Inc. All rights reserved.

Osteopetrosis, also known as marble bone disease and
Albers-Schonberg disease, is an uncommon, heritable
skeletal condition first described in 1904 by Dr Albers-
Schönberg, a German radiologist [1,2]. In most forms, it
is characterized by defective osteoclasts, which are un-
able to form the acidic, ruffled border necessary to resorb
calcified cartilage during childhood and bone during
adulthood. This results in an inhibition of bone turnover
and remodeling, leading to bones made of disorganized
calcified cartilage with immature, thickened trabeculae
and cortices. Despite its thickened and sclerotic nature,
it is substantially weaker and more brittle than a normal
bone. Disruption of bone metabolism results in clinical
manifestations including multiple recurrent fractures,
osteoarthritis, osteomyelitis, and obliteration of the
medullary cavity [1,2]. The 3 main types of osteopetrosis
are classified as infantile malignant, intermediate, and
benign. The malignant autosomal recessive form of this
disease results in death in the first decade of life. The
From the Department of Orthopaedic Surgery, Duke University Medical
Center, Durham, NC.
Submitted July 10, 2011; accepted December 10, 2011.
The Conflict of Interest statement associated with this article can be
found at doi:10.1016/j.arth.2011.12.007.
Reprint requests: Stephanie W. Mayer, MD, Department of
Orthopaedic Surgery, Duke University Medical Center, 200 Trent Dr
Box 3269, Durham, NC 27710.
© 2012 Elsevier Inc. All rights reserved.
0883-5403/2708-0026$36.00/0
doi:10.1016/j.arth.2011.12.007
intermediate autosomal recessive form carries a life
expectancy into adulthood and has the highest inci-
dence of osteomyelitis of the jaw. The benign autosomal
dominant form is the most common and typically carries
a full life expectancy, however, with increased propen-
sity for fractures and other musculoskeletal problems.
Radiographic traits of osteopetrosis include increased
bone density, osteosclerosis, metaphyseal widening,
endobone formation, and skull-base and vertebral end-
plate thickening [3].
Degenerative osteoarthritis is a commonly encoun-
tered complication of long-standing osteopetrosis [4].
Total knee arthroplasty (TKA) remains a good option for
these patients, but there are unique challenges even
during what would otherwise be a routine procedure
due to replacement of cancellous bone with hard,
sclerotic trabeculae and cortical bone and, therefore,
obliteration of the cancellous bone of the medullary
canal and the metaphyseal regions. These challenges
consist of reaming of the femoral canal, drilling for
multiple pins to secure jigs, and challenging saw resec-
tions of the distal femur and proximal tibia. These
obstacles can lead to malpositioned components and
inadequate surfaces for cement interdigitation. To
circumvent these obstacles, surgeons have used external
alignment guides, customized implant components with
smaller stems, and computer-assisted navigation tech-
niques and have reported successful outcomes in short-
and medium-term follow-up in several case reports

1580.e1
1580.e2 The Journal of Arthroplasty Vol. 27 No. 8 September 2012
[5-7]. In each of these techniques, the intraoperative
goal was to minimize the amount of drilling, reaming,
and saw passes while still achieving appropriate align-
ment and ingrowth surfaces for the components. We
report the use of patient-specific instrumentation (PSI;
Zimmer, Warsaw, Ind) for TKA in an osteopetrosis
patient as another alternative to minimize these difficult
and time-consuming steps. PSI uses a preoperative long-
axis magnetic resonance imaging (MRI), which is used
to manufacture unique cutting jigs specific to a patient's
femoral and tibial anatomy through the use of rapid
prototyping technology (Fig. 1A-C). This allows the
surgeon to use one set of jigs that are predesigned
to contour to the patient's distal femur and proximal
tibia to perform the appropriate femoral and tibial resec-
tions. This eliminates the need to ream the intramedul-
lary canal for an alignment guide, minimizes the
number of femoral and tibial pins necessary for securing
cutting jigs, and reduces the number of saw blade passes
because the guide is fabricated for a predetermined
resection. Short-term results from a feasibility trial and
case series using a similar approach for routine TKA
suggest that the procedure achieves the same level of
precision in component placement as the conventional
TKA technique [8].
Case Report
We report on a 58-year-old man with osteopetrosis
who presented to the orthopaedic clinic at our institu-
tion with bilateral, right greater-than-left, knee pain. His
pain and effusions had been persistent for several years,
beginning during a period of increased physical activity.
He had previously been evaluated by an outside
orthopedist who initially suspected meniscal pathology
and, after an MRI, recommended right knee arthrosco-
py. At the time of surgery, degenerative meniscal tears,
Fig. 1. (A) Screenshot of the PSI planning software for cutting jig design. Completed patient-specific cutting jigs fabricated for our
patient's distal femur (B) and (C) tibial plateau.
as well as extensive lateral compartment chondral loss,
was noted. He was subsequently managed with aspira-
tions for recurrent effusions and steroid injections, both
of which provided short-lived relief. He was referred to
our institution for consideration of TKA, given his
diagnosis of osteopetrosis. At the time of our initial
evaluation, he was noted to have a partially correctable
clinical valgus deformity and a 7° flexion contracture
with active flexion to 120°. He had no neurovascular
compromise in either lower extremity. On plain film
imaging, approximately 10° of overall valgus deformity
with mild osteophyte formation and mild lateral joint
space narrowing was observed (Fig. 2A). Because of his
localizing symptoms and history of failed conservative
management in the face of known full-thickness chon-
dral lesions by arthroscopy, a TKA was recommended.
His history of osteopetrosis caused concern for chal-
lenges with intramedullary guide rod placement for
positioning of femoral component cutting jigs, place-
ment of the tibial component keel, drilling for pins, and
the possibility of multiple resections for soft tissue
balancing. It was felt that PSI was a good option in this
case. After the risks and benefits of the procedure were
explained to the patient, he was consented for TKA
using PSI. He underwent a routine MRI for preoperative
fabrication of custom-cutting blocks (Figs. 1B, C) and
was taken to the operating room where a right TKA
was performed using a standard medial parapatellar
approach. Zimmer Gender Solutions NexGen High-Flex
Knee Implants and posterior cruciate ligament–sacrific-
ing NexGen High-Flex Knee Implants were used. The
implanted components consisted of a size 4 gender-
specific male femur, size 3 tibia, and 9-mm ultracon-
gruent high-molecular-weight highly cross-linked tibial
polyethylene insert. Despite the use of PSI, there was
difficulty in drilling even for the limited numbers of pins
 TKA in Osteopetrosis Using Patient-Specific Instrumentation  Mayer et al 1580.e3

Fig. 2. (A) Preoperative long-standing radiograph. Note the sclerosis and medullary canal obliteration of the femur and tibia
characteristic of osteopetrosis. (B) Three-month long-standing radiograph after TKA using the PSI technique. (C) Six-month
postoperative anteroposterior view. (D) Six-month postoperative lateral view.

required for the femoral and tibial cutting guides. In
total, three drill bits were used for this purpose.
Similarly, the tibial and femoral cuts through the
subchondral bone were challenging, and four saw blades
were needed. Nine batteries were used during the case
for the drills, reamers, and saw. Preparing the tibial canal
for the keel required a high-speed burr rather than the
standard reamer and punch to adequately create space
and prevent fracture when placing the final tibial
implant. No significant patellar chondromalacia or
cartilage loss was noted, and it was decided that the
patella would be left unresurfaced. Trial components
were placed, and the sizing and soft tissue balancing
were felt to be satisfactory. After the removal of the
femoral trial component, a fracture of the medial
condyle was noted emanating from the femoral com-
ponent lug hole used in this system for femoral
component positioning. This fracture was captured
nicely by the final femoral component and did not
cause problems with the final component fit, and the
components were able to be cemented in appropriate
alignment. The usual postoperative protocol was chan-
ged from weight bearing as tolerated to partial weight
bearing with range of motion as tolerated for six weeks
to protect the medial condyle fracture, and the patient
recovered uneventfully and was discharged home on
postoperative day three. At six weeks postoperatively,
he was transitioned to weight bearing as tolerated with
no further complications. At the time of this manuscript,
he was doing well six months postoperatively. His range
of motion was reported by physical therapy at 0° to 130°;
he rated his pain as a 2 of 10 and described it as
occasional and worst at night after a day of activity. He
was able to walk an unlimited distance and was using no
assistive device. His implants remained in good align-
ment without radiographic evidence of loosening.
(Figs. 2B, D). His medial condyle fracture appeared
healed radiographically. Permission was granted by the
patient for use of medical information in this case report.
Discussion
Degenerative osteoarthritis is common in patients with
osteopetrosis [4]. This may develop as a result of skeletal
deformities such as coxa vara, anomalous fracture
callous causing malunion, and nonunion [9]. It can
also occur in the absence of deformity due to compres-
sion of articular cartilage onto hard and unforgiving
subchondral bone seen in this disease [3,14]. Symptom-
atic osteoarthritis in this patient population may be
considered for treatment with total joint arthroplasty.
However, osteopetrosis is recognized to create unique
technical difficulties and possible complications in
arthroplasty. Obliteration of the medullary canal can
make intramedullary guide placement and reaming
challenging and can compromise the final femoral or
tibial stem placement. The cancellous bone presented
after resection is abnormal and sclerotic; therefore, a
proper cementing technique is important. Brittle bone
can increase the risk for iatrogenic fracture, and dis-
ordered bone turnover impedes fracture healing should
it occur. In addition, overheating and breakage of drill
bits, as well as longer surgical time, are often encoun-
tered. For total hip arthroplasty, the average surgical
time was reported as nearly 5 hours in one article [10].
1580.e4 The Journal of Arthroplasty Vol. 27 No. 8 September 2012
Finally, these patients are known to be at higher risk of
osteomyelitis because of poor blood flow through the
obliterated medullary canal and relative neutropenia. It
should be noted, however, that in the few published
reports on total joint arthroplasty in osteopetrosis, there
are no cases of postoperative osteomyelitis. At this time,
there is a paucity of information available about hip and
knee arthroplasty in patients with osteopetrosis. Cur-
rently, there are 11 articles in English literature report-
ing joint arthroplasty in patients with osteopetrosis
consisting of case reports and case series only. These
articles consist of 19 hip arthroplasties in 13 patients
[4-7,10-13], one hip resurfacing [14], and three knee
arthroplasties in three patients [10,15]. Overall, these
procedures have proven difficult but have shown
successful outcomes. A review of these cases demon-
strated stable implants and no major complications with
follow-up as long as six years [10].
Surgical technique differed considerably among the
case reports because surgeons attempted to circumvent
the problems associated with osteopetrosis in arthro-
plasty. For total hip arthroplasty, one author described
shortened femoral stems to minimize reaming of the
femoral canal [4]. Egawa et al [5] reported the use of
computer-assisted fluoroscopic navigation to aid in the
creation of a femoral canal with a high-speed burr.
Benum et al [7] designed a computed tomography–
based customized femoral component for use in total hip
arthroplasty, which was compatible with the patient's
unique bone geometry. No advanced technology has
been described for TKA; however, changes in instru-
mentation and surgical tools are described. External
femoral alignment guides were implemented in two
cases of primary cemented TKA [10]. These authors
discussed the use of external alignment guides due to the
hard medullary canal, difficult bone cuts, and the use of a
high-speed burr instead of the standard broach for the
tibial keel. Outcomes included one patient with an
uncomplicated postoperative course and a good motion
and pain relief at 2-year follow-up, and the need for
postoperative manipulation under anesthesia in the
other patient with subsequent excellent outcome at 20-
year follow-up. One previous report of TKA in a patient
with osteopetrosis reported similar challenges but stable
implants with pain relief at two-year follow-up [15].
We report the use of PSI in TKA to minimize the
difficulty caused by the characteristics of bones in patients
with osteopetrosis. The use of prefabricated cutting jigs
eliminates the need to ream the femoral canal and
reduces the number of pin sites to be drilled. In addition,
the MRI-based design system provides accurate bone
resections built into the customized jigs, which are often
difficult to achieve through conventional methods and
often need intraoperative revisions resulting in multiple
difficult saw passes. This technique provides innovative
solutions to the unique challenges encountered while
performing TKA in patients with osteopetrosis and, given
the satisfactory outcome in this patient, appears to be an
option in this situation.
References
1. Tolar J, Teitelbaum SL, Orchard PJ. Osteopetrosis. N Engl J
Med 2004;351:2839.
2. Shapiro F. Osteopetrosis. Current clinical considerations.
Clin Orthop Relat Res 1993;294:34.
3. Landa J, Margolis N, Di Cesare P. Orthopaedic manage-
ment of the patient with osteopetrosis. J Am Acad Orthop
Surg 2007;15.
4. Cameron HU, Dewar FP. Degenerative osteoarthritis
associated with osteopetrosis. Clin Orthop Relat Res
1977;127:148.
5. Egawa H, Nakano S, Hamada D, et al. Total hip
arthroplasty in osteopetrosis using computer-assisted
fluoroscopic navigation. J Arthroplasty 2005;20:1074.
6. Gwynne Jones DP, Hodgson BF, et al. Bilateral, unce-
mented total hip arthroplasty in osteopetrosis. J Bone Joint
Surg Br 2004;86:276.
7. Benum P, Aamodt A, Nordsletten L. Customised femoral
stems in osteopetrosis and the development of a guiding
system for the preparation of an intramedullary cavity: a
report of two cases. J Bone Joint Surg Br 2010;92:1303.
8. Lombardi AV, Berend KR, Adams JB. Patient-specific
approach in total knee arthroplasty. Orthopedics 2008;31:
927.
9. de Palma L, Tulli A, Maccauro G, et al. Fracture callus in
osteopetrosis. Clin Orthop Relat Res 1994;308:85.
10. Strickland JP, Berry DJ. Total joint arthroplasty in patients
with osteopetrosis: a report of 5 cases and review of the
literature. J Arthroplasty 2005;20:815.
11. Matsuno T, Katayama N. Osteopetrosis and total hip
arthroplasty. Report of two cases. Int Orthop 1997;21:409.
12. Janecki CJ, Nelson CL. Osteoarthritis associated with
osteopetrosis treated by total hip replacement arthroplasty.
Report of a case. Clevel Clin Q 1971;38:169.
13. Ashby ME. Total hip arthroplasty in osteopetrosis. A report
of two cases. Clin Orthop Relat Res 1992;214.
14. Girard J, Vendittoli PA, Lavigne M, et al. Resurfacing
arthroplasty of the hip in osteopetrosis. J Bone Joint Surg
Br 2006;88:818.
15. Casden AM, Jaffe FF, Kastenbaum DM, et al. Osteoarthri-
tis associated with osteopetrosis treated by total knee
arthroplasty. Report of a case. Clin Orthop Relat Res 1989;
202.