Orthopedics

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Case Report 

Total Knee Arthroplasty in a Patient With Pseudopseudohypoparathyroidism

Michael R. Fraser Jr, MD; V. Franklin Sechriest II, MD

Abstract

Pseudopseudohypoparathyroidism (PPH) is a rare genetic disorder characterized by multiple musculoskeletal anomalies and normal serum calcium, phosphate, and parathyroid hormone levels. Although the musculoskeletal manifestations of PPH are well known, little has been reported on the management of orthopedic problems. We report a case of total knee arthroplasty (TKA) performed in a patient with PPH. To our knowledge, this case is not only unique to the arthroplasty literature but is the first report of its kind. This report illustrates the unique pathoanatomy of PPH, the medical and surgical management required, and a previously unreported musculoskeletal abnormality associated with PPH: synovial osteochondromatosis of the knee.

Common musculoskeletal anomalies associated with PPH include shortening/bowing of long bones; shortening of metacarpals, metatarsals, and/or phalanges; exostoses; calcification/ossification of subcutaneous and/or periarticular soft tissues; a thickened calvarium; microcephaly; bony coalitions of the hand; vertebral column abnormalities; cubitus valgus; radius/ulna curvus; coxa vara; coxa valga; and genu valgum. This case is the first to report an association of synovial osteochondromatosis with PPH. Because synovial osteochondromatosis and PPH share a common disorder of soft tissue calcification/ossification, as well as abnormal bone formation, this clinical finding does not seem merely coincidental.

Abstract

Pseudopseudohypoparathyroidism (PPH) is a rare genetic disorder characterized by multiple musculoskeletal anomalies and normal serum calcium, phosphate, and parathyroid hormone levels. Although the musculoskeletal manifestations of PPH are well known, little has been reported on the management of orthopedic problems. We report a case of total knee arthroplasty (TKA) performed in a patient with PPH. To our knowledge, this case is not only unique to the arthroplasty literature but is the first report of its kind. This report illustrates the unique pathoanatomy of PPH, the medical and surgical management required, and a previously unreported musculoskeletal abnormality associated with PPH: synovial osteochondromatosis of the knee.

Common musculoskeletal anomalies associated with PPH include shortening/bowing of long bones; shortening of metacarpals, metatarsals, and/or phalanges; exostoses; calcification/ossification of subcutaneous and/or periarticular soft tissues; a thickened calvarium; microcephaly; bony coalitions of the hand; vertebral column abnormalities; cubitus valgus; radius/ulna curvus; coxa vara; coxa valga; and genu valgum. This case is the first to report an association of synovial osteochondromatosis with PPH. Because synovial osteochondromatosis and PPH share a common disorder of soft tissue calcification/ossification, as well as abnormal bone formation, this clinical finding does not seem merely coincidental.

Total Knee Arthroplasty in a Patient With Pseudopseudohypoparathyroidism

Drs Fraser and Sechriest are from the Naval Medical Center San Diego, California.

Drs Fraser and Sechriest have no relevant financial relationships to disclose.

The views and opinions expressed in this article are those of the authors and do not reflect the official policy of the Department of the Navy, Department of Defense, or United States government.

Correspondence should be addressed to: V. Franklin Sechriest II, MD, Department of Orthopedic Surgery, Naval Medical Center San Diego, 34800 Bob Wilson Dr, San Diego, CA 92134.

Posted Online: August 08, 2011

Pseudopseudohypoparathyroidism (PPH) is a rare genetic disorder characterized by multiple musculoskeletal anomalies and normal serum calcium, phosphate, and parathyroid hormone levels.1–3 Pseudopseudohypoparathyroidism is clinically similar to but biochemically different than pseudohypoparathyroidism. Although much has been written describing the musculoskeletal manifestations of PPH, little has been reported on the surgical management of orthopedic problems in this population.

To raise awareness and improve orthopedic management of patients with this rare condition, we report a case of a patient with PPH who underwent total knee arthroplasty (TKA). This report illustrates the unique pathoanatomy of PPH and highlights the relatively conventional medical and surgical management required. In addition, a previously unreported musculoskeletal abnormality associated with PPH, synovial osteochondromatosis of the knee, is described. The patient was informed that data concerning her case would be submitted for publication, and she consented.

Case Report

A 76-year-old woman with PPH presented with right knee pain, swelling, and deformity. On physical examination, the patient’s height was 4′ 10″ tall and her weight was 139 lbs. The remainder of the physical examination was remarkable only for features of PPH including a round face and brachydactyly (Figure 1).

Physical examination was remarkable for physical features characteristic of PPH including round face and brachydactyly.

Figure 1: Physical examination was remarkable for physical features characteristic of PPH including round face and brachydactyly.

Knee examination revealed a fixed valgusflexion deformity. Knee range of motion measured 15° to 115°. Knee radiographs showed diffuse calcification, valgus alignment, and tri-compartmental arthritis (Figure 2). Laboratory studies disclosed normal calcium and phosphate levels (9.4 and 3.6 mg/dL, respectively).

Preoperative AP (A) and lateral (B) radiographs of the right knee showed valgus alignment with tricompartmental arthritic changes. Intra-articular calcific densities were apparent, especially within the suprapatellar pouch. Diffuse dystrophic calcification of subcutaneous and periarticular soft tissues was also apparent (C).

Figure 2: Preoperative AP (A) and lateral (B) radiographs of the right knee showed valgus alignment with tricompartmental arthritic changes. Intra-articular calcific densities were apparent, especially within the suprapatellar pouch. Diffuse dystrophic calcification of subcutaneous and periarticular soft tissues was also apparent (C).

In April 2008, the patient underwent TKA. Knee exposure was performed with a standard medial parapatellar arthrotomy. Numerous osteocartilaginous bodies were found within the joint. Histopathologic analysis suggested synovial osteochondromatosis (Figure 3), and a thorough synovectomy was performed.

Intraoperative photograph (A) showing intra-articular osteocartilaginous nodule. Nodules, which were both free floating and attached to the synovium, were white-gray, translucent hyaline cartilage and ranged in size from 1 to 3 cm. Photomicroscopy (B and C) revealed focal islands of disorganized and hypercellular hyaline cartilage metaplasia in synovium consistent with synovial osteochondromatosis (hematoxylin-eosin, original magnification ×4 and ×20, respectively).

Figure 3: Intraoperative photograph (A) showing intra-articular osteocartilaginous nodule. Nodules, which were both free floating and attached to the synovium, were white-gray, translucent hyaline cartilage and ranged in size from 1 to 3 cm. Photomicroscopy (B and C) revealed focal islands of disorganized and hypercellular hyaline cartilage metaplasia in synovium consistent with synovial osteochondromatosis (hematoxylin-eosin, original magnification ×4 and ×20, respectively).

Tibial and femoral preparation was performed using conventional instrumentation. Although complicated by stiff calcified capsular and ligamentous tissues, the valgus-flexion deformity was corrected through additional distal femoral resection and soft tissue releases. Soft tissue balance was not achieved. Optimal implant sizing was achieved with conventional components, and a condylar-constrained prosthesis (NexGen CCK; Zimmer, Warsaw, Indiana) was used (Figure 4).

Intraoperative photographs showing the original knee joint (A) and the cemented, condylar-constrained prosthesis (B).

Figure 4: Intraoperative photographs showing the original knee joint (A) and the cemented, condylar-constrained prosthesis (B).

Postoperatively, the patient’s rehabilitation required pediatric appliances including a continuous passive motion machine and wheeled-walker to accommodate her short stature. Two years postoperatively, her Knee Society score was 95, reflecting a deduction of 5 points for limited motion (5°–110°). Her functional score was 90, reflecting a deduction of 10 points for climbing or descending stairs using the rail. Radiographs confirmed a well-fixed prosthesis without evidence of osteochondromatosis (Figure 5). The patient continues to undergo annual follow-up.

AP (A), lateral (B), and patella (C) radiographs obtained 2 years postoperatively show a well-fixed and well-positioned prosthesis with no evidence of recurrent osteochondromatosis.

Figure 5: AP (A), lateral (B), and patella (C) radiographs obtained 2 years postoperatively show a well-fixed and well-positioned prosthesis with no evidence of recurrent osteochondromatosis.

Discussion

The term pseudohypoparathyroidism was first used by Albright et al4 in 1942 to describe a syndrome characterized by short stature, round face, brachydactyly, and biochemical features of hypoparathyroidism including hyperphosphatemia and hypocalcemia. This condition was later described by others as Albright’s hereditary osteodystrophy.5–7

In 1952, Albright et al8 described the first case of PPH in a patient with physical findings of Albright’s hereditary osteodystrophy without apparent parathyroid dysfunction. Subsequently, several similar cases were described in the medical literature. However, the wide array of musculoskeletal abnormalities associated with PPH resulted in the use of complex and often confusing nomenclature including dyschondroplasia and exostoses with metaphyseal dysplasia or congenital skeletal malformations9; dyschondroplasia with soft tissue calcification and ossification, and normal parathyroid functions10; dystrophie d’Albright Type II11; brachymetacarpal dwarfism12; dyschondroplastic oligophrenic dwarfism13; and cerebrometacarpo-metatarsal dystrophy.14

Currently, PPH is well-recognized as part of a spectrum of genetic disorders resulting in dysfunction at various levels of the parathyroid-target tissue axis. Although the precise cause of PPH remains incompletely understood, recent advances in genetic research have shown it arises secondary to an abnormal expression of the Gsα gene.15,16

Commonly reported musculoskeletal abnormalities associated with PPH include shortening and bowing of the long bones17; shortening of the metacarpals, metatarsals, and phalanges18; exostoses19; calcification or ossification of subcutaneous and periarticular soft tissues2; and abnormalities of the skull including a thickened calvaria or microcephaly.20 Less commonly reported musculoskeletal abnormalities include bony coalitions of the hand (ie, congenital fusion between the metacarpocarpal and radiocarpal bones)21; vertebral column abnormalities (ie, shortened pedicles, enlarged laminae, and calcified ligaments associated with lumbar and cervical spinal cord compression22); cubitus valgus; radius and ulna curvus; coxa vara and valga; and genu valgum.23

Although the musculoskeletal manifestations of PPH are well-described, little has been reported on the management of orthopedic problems in this population. This case of TKA in a patient with PPH is unique not only to the arthroplasty literature but also is the first report of its kind.

For the orthopedist, although patients with PPH may possess many of the same somatic abnormalities associated with pseudohypoparathyroidism, PPH is relatively medically uncomplicated. Specifically, the signs and symptoms of pseudohypoparathyroidism that result from derangement of metabolism of calcium and phosphorus (eg, osteoporosis, basal ganglia calcification, tetany, cataracts, and dental abnormalities) are uncommon with PPH.24 Excluding the presence of other medical comorbidities, most patients with PPH do not appear to have a reduced life expectancy or any condition-related contraindication to elective orthopedic procedures such as total joint arthroplasty. Another important distinction between PPH and other forms of pseudohypoparathyroidism is intellectual capacity; cognitive impairment and intellectual deficits are not prevalent among patients with PPH.25

When considering TKA in patients with PPH, good results may be obtained with conventional techniques and instrumentation if surgeons plan for the requirements associated with patients of short stature as well as the technical issues related to the specific musculoskeletal pathoanatomy.

Preoperative templating will ensure appropriate implant sizes are readily available and predict whether extramedullary alignment guides or navigation will be required. Intraoperatively, periarticular calcification or ossification of the joint capsule and collateral ligaments may prevent soft tissue balance of the knee. In our patient, a varus-valgus constrained implant was required. Similar difficulty in ligament balancing has been reported in cases of TKA for patients with other inherited forms of dwarfism.26,27 For the postoperative phase, arranging for availability of appropriate sized equipment (eg, continuous passive motion machine or walker) may prevent delays in rehabilitation.

Although synovial manifestations of other rare skeletal dysplasias have been reported, the association of synovial osteochondromatosis and PPH has not been described.28,29 Because synovial osteochondromatosis and PPH share in common a disorder of soft tissue calcification and ossification as well as abnormal bone formation, our clinical finding does not seem merely coincidental. However, at this time, no disease-specific reason or pathogenetic mechanism can be proposed to explain the relationship, if any, between the 2 disorders. Although there are reports of successful TKA in patients with synovial osteochondromatosis, the outcomes are notable for inferior knee motion and risk of disease recurrence.30

Although the musculoskeletal manifestations of PPH may present challenges for orthopedic procedures, success can be obtained through an understanding of the disease process, an attention to preoperative planning and postoperative requirements, and an operative technique adapted to address disease-specific pathoanatomic features. From a medical standpoint, patients with PPH are essentially physiologically normal and with no apparent condition-related health risks for orthopedic surgery.

References

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Authors

Drs Fraser and Sechriest are from the Naval Medical Center San Diego, California.

Drs Fraser and Sechriest have no relevant financial relationships to disclose.

The views and opinions expressed in this article are those of the authors and do not reflect the official policy of the Department of the Navy, Department of Defense, or United States government.

Correspondence should be addressed to: V. Franklin Sechriest II, MD, Department of Orthopedic Surgery, Naval Medical Center San Diego, 34800 Bob Wilson Dr, San Diego, CA 92134.

10.3928/01477447-20110627-30

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