Deformity correction for vitamin D-resistant ...

Arch Orthop Trauma Surg DOI 10.1007/s00402-007-0548-8

ORTHOPAEDIC SURGERY

Deformity correction for vitamin D-resistant hypophosphatemic rickets of adults Hidenori Matsubara · Hiroyuki Tsuchiya · Tamon Kabata · Keisuke Sakurakichi · Koji Watanabe · Katsuro Tomita

Received: 13 July 2006 © Springer-Verlag 2007

Abstract We performed correction for bowing deformity of the lower extremities due to vitamin D-resistant hypophosphatemic rickets of three adults, six segments. The operative method was gradual correction and lengthening using distraction osteogenesis by Ilizarov external Wxator or Heidelberg external Wxator. The orders of the corrections were simultaneous correction of the bilateral femur for one patient, simultaneous correction of the ipsilateral leg for one patient, and diagonal correction of the bilateral leg for one patient. The mean correction angle was 30.5°. The mean external Wxation period was 146 days. Each orders of the corrections had its merits and demerits. All patients obtained a physiological alignment and good bone formation by taking Vitamin D and oral phosphate supplements even an adult patient. All the patients had articular pain, such as hip, knee, and ankle, however, these pains healed up. All the patients were satisWed with the outcomes at the time of the Wnal follow-up interview in terms of their cosmetic improvement. Distraction osteogenesis for bowing deformity of the lower extremities due to vitamin D-resistant hypophosphatemic rickets was very eVective method and could be applied to adult patients. However, the order of the corrections should be considered carefully depending on each patient. Keywords Rickets · Deformity · External Wxator · Adult · Distraction osteogenesis

H. Matsubara · H. Tsuchiya (&) · T. Kabata · K. Sakurakichi · K. Watanabe · K. Tomita Department of Orthopaedic Surgery, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa 920-8641, Japan e-mail: [email protected]

Introduction Vitamin D-resistant hypophosphatemic rickets is an Xlinked genetic disease and was Wrst described in 1937 by Albright et al. [1]. This defect can occur only in the convoluted tubules of the kidney [2, 3], or some authors also postulate failure of 1--hydroxylation of vitamin D by the kidney in some cases [6, 13]. Clinical features include hypophosphatemia, short stature, reduced growth rate, short limbs, coax vara, genu varum or valgum, and tibial torsion. Most authors report that early medical treatment of highdose vitamin D therapy in childhood may prevent or alleviate long bone deformities, and facilitate healing of pseudofractures [9]. However, despite adequate medical management or due to delay of diagnosis, many patients are still seen with signiWcant deformities and need to be treated operatively. We have had experience treating severe deformities in three patients with vitamin D-resistant hypophosphatemic rickets of adults using an external Wxator. In this study, we discussed operative corrections for bowing deformity of the lower extremities due to vitamin D-resistant hypophosphatemic rickets retrospectively.

Materials and methods A total of three patients, six limbs were considered. There were one male and two females aged 24–46 (average 33.2 years old). Osteotomies were performed on 10 segments, 6 femora and 4 tibiae. The follow-up period was from 4 years and 1 month to 6 years (average 5 year 3 months). The operative method was correction and lengthening using an external Wxator, followed by Paley’s CORA method [12]. The purposes of the operation were to realign the mechanical axis and joint orientation for

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Arch Orthop Trauma Surg

preventing the progress of osteoarthritic change and to improve appearance cosmetically. CT-scans were performed to measure rotation before surgery. The kinds of external Wxator were Ilizarov external Wxator for nine segments and Heidelberg external Wxator for one segment. The orders of the corrections were simultaneous correction of the bilateral femur for one patient, simultaneous correction of the ipsilateral leg for one patient, and diagonal correction of the bilateral leg for one patient. All patients had highdose vitamin D therapy and oral phosphate supplements during treatments.

Results (Table 1) All corrections were performed according to a pre-operative schedule. All patients obtained a normal mechanical axis. The correction angle was from 24° to 45° (average 30.5°) in the frontal plane. All patients had a small amount of deformity in the saggital plane, which could be neglected. No patient had rotational deformity. The external Wxation period was from 126 to 166 days (average 146 days). All patients had articular pain in some joint, such as hip, knee, and ankle, however, these pains healed up. All patients obtained a good alignment of their bilateral lower legs and have no recurrence of the deformity. There were no complications throughout their course. All the patients were satisWed with the outcomes at the time of the Wnal follow-up interview in terms of their cosmetic improvement.

Case presentation Case 1. The patient is a 26-year-old male. His chief complaint was pain in bilateral hips, knees, and ankles. He was diagnosed of vitamin D-resistant hypophosphatemic rickets Table 1 Patients demography Patient number

Sex

Age at treatment

Segment

Correction angle (°)

EFT (days)

1

M

26

rt.femur

38

133

26

lt.femur

34

133

45

rt.femur

24

126

45

rt.tibia

24

126

46

lt.femur

24

166

46

lt.tibia

25

166

24

rt.femur

45

148

24

lt.tibia

27

148

25

lt.femur

40

157

25

rt.tibia

24

157

30.5

146

2

3

Average

F

F

33.2

EFT External Wxation time

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at the age of 3 and had been followed with a medical therapy, which however was discontinued. At the age of 10, he was performed corrective osteotomy of bilateral tibiae. At the Wrst visit to our hospital, he was 150 cm tall and had the bowing deformity of bilateral lower legs. X-ray demonstrated loser’s zone in his left tibia that is peculiar to vitamin D-resistant hypophosphatemic rickets (Fig. 1a). Laboratory data showed hypophosphatemia (2.0 mg/dl), high level of alkaliphosphatase (391 IU/l), low level of %TRP (77.8%), and hyperphosphateuria that were compatible with vitamin D-resistant hypophosphatemic rickets. The patient’s operation was performed as shown below. At Wrst, we performed the correction and lengthening of his bilateral femora, because he already had his bilateral tibiae corrected. We divided the deformity at two osteotomy sites because the shape of femora would be unacceptable if we osteomized at one site. The correction and lengthening were carried out gradually using an Ilizarov external Wxator (Fig. 1b). He complained much about disturbance to daily living due to bilateral Ilizarov external Wxator (Fig. 1c). The external Wxation period was 133 days. The lateral distal femoral angle (LDFA) was 87° as scheduled in his bilateral femora (Fig. 1d). His chief complaint, bilateral articular pain, healed contentedly. The loser’s zone was fused. Case 2. The patient is a 46-year-old female. Her chief complaint was bilateral ankle pain. At the Wrst visit of our hospital, she was 131 cm tall and had the striking bowing deformity of bilateral lower legs (Fig. 2a). Laboratory data showed hypophosphatemia (2.3 mg/dl), low level of %TRP (82.4%), and hyperphosphateuria. She was diagnosed as vitamin D-resistant hypophosphatemic rickets by conducting a careful examination after the admission. At Wrst, we performed the gradual correction and lengthening of her right femur and tibia according to Paley’s CORA method, using an Ilizarov external Wxator. We osteomized at one site because the deformity was mild (Fig. 2b). She also complained about disturbance of daily living due to Ilizarov external Wxator for her femur, which was solved by removing the medial portion of the Ilizarov external Wxator. The external Wxation period was 126 days. She was conducted the contralateral side of correction and lengthening just after the hardware removal of her right leg (Fig. 2c). She was comfortable with the application of unilateral type external Wxator Heidelberg for her left femur. The external Wxation period was 166 days. She was satisWed with the healing of her chief complaint, bilateral ankle pain, besides cosmetic improvement (Fig. 2d). Case 3. The patient is a 24-year-old female. Her chief complaint was deformity of bilateral lower legs. At the Wrst visit of our hospital, she was 129 cm tall and had the striking bowing deformity of bilateral lower legs (Fig. 3a). Laboratory data showed hypophosphatemia (2.0 mg/dl), low level of %TRP (83.7%), and hyperphosphateuria. She was


Fig. 1 a Case 1: Before the operation. b Left, X-ray of bil. femur after the operation. Right, X-ray of bil. femur after the correction. c Disturbance in an activity of daily living due to Ilizarov external Wxator of bilateral femur. d After the operation

also diagnosed as vitamin D-resistant hypophosphatemic rickets by conducting a careful examination after the admission. At Wrst, we performed the gradual correction and lengthening of her right femur and left tibia with an Ilizarov external Wxator. We osteomized at two sites same as case 1 (Fig. 3b). The external Wxation period was 148 days. And then she was conducted the diagonal side of correction and lengthening 2 months after the hardware removal (Fig. 3c). The external Wxation period was 157 days. She was satisWed with her cosmetic improvement very much, especially because she was a young woman (Fig. 3d).

Discussion From our results, operative correction for bowing deformity of the lower extremities due to vitamin D-resistant hypophosphatemic rickets using an external Wxator was a very eVective method, although our series include only three cases. It could apply for adult patient suYciently. Many methods such as multiple osteotomy and intramedullary nailing [7, 8, 15], plate Wxation [6–8, 14], and epiphysiodesis [6, 11] have been described to treat the deformity due to vitamin D-resistant hypophosphatemic rickets. In the 1990s, only a few reports were published on

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Fig. 2 a Case 2: Before the operation. b Left, X-ray of right leg after the operation. Right, X-ray of right leg after the correction. Left, X-ray of left leg after the operation. Right, X-ray of left leg after the correc-

tion. c Left, X-ray of left leg after the operation. Right, X-ray of left leg after the correction. Left, X-ray of right leg after the operation. Right, X-ray of right leg after the correction. d After the hardware removal

the outcomes of deformity correction and limb lengthening using an external Wxator in patients with vitamin D-resistant hypophosphatemic rickets [4, 10].

Plate Wxation is necessary to acutely correct during operation, therefore the correction angle is limited. And it is diYcult to correct accurately for the complicated deformity

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Fig. 3 a Before the operation. b Left, X-ray of right femur and left tibia after the operation. Right, X-ray of right femur and left tibia after the correction. c Left, X-ray of left femur and right tibia after the operation.

Right, X-ray of left femur and right tibia after the correction. d After the hardware removal

of vitamin D-resistant hypophosphatemic rickets, even though the deformed bone is resected on three-dimensions. Moreover, patients with vitamin D-resistant hypophosphatemic rickets are diYcult to accept this method because they have shorter lower legs originally. And this method cannot lengthen limbs and produce a high rate of complications such as non-union and pathological fracture [6]. Multiple osteotomies with intramedullary nails method cannot Wx an epiphyseal fragment if an osteotomy site locates an edge of fragment, and cannot lengthen limbs either. Both plate Wxation and multiple osteotomies with intramedullary nails method cannot correct the articular inclination and mechanical axis, but can correct only the bone axis, because the deformities due to rickets are the remodeled type deformity [7, 8, 15].

Epiphysiodesis produces much recurrence of deformities and cannot apply to adult patients. For that reason, this method is not performed any more [6, 11]. On the other hand, correction and lengthening by distraction osteogenesis using an external Wxator can apply to multidimensional deformity due to vitamin D-resistant hypophosphatemic rickets, correct a large deformity gradually and lengthen limbs. It has some disadvantages such as discomfort of an external Wxator and in need of pin site care. Choi et al. [4] reported 14 cases 40 limbs (aged from 3 to 22 years) treated surgically with gradual deformity correction and lengthening using an Ilizarov external Wxator. Complications occurred in four patients such as early consolidation, a fracture on the lengthened callus, and transient peroneal nerve palsy. However, all but one patient was not

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satisWed with their stature. Kanel et al. [10] demonstrated 9 cases 29 limbs (aged from 4 to 18 years) treated surgically with acute correction using a unilateral external Wxator. Although complications occurred in two patients such as compartment syndrome, asymptomatic quadriceps hernia, all patients obtained a good result. However, this method cannot apply to the cases that needed a larger correction. Even though we performed two-site osteotomy, it is diYcult to Wx with a unilateral external Wxator. Both these two reports show the eVectiveness of using an external Wxator, nevertheless there is no report of adult patients. The diVerence in vitamin D-resistant hypophosphatemic rickets between child and adult is that the former can expect a deformity correction by appropriate medication. On the other hand, vitamin D-resistant hypophosphatemic rickets of adult show many diYcult orthopaedic problems due to a completed deformity, which cannot be expected to be remodelled by medication and usually needs an operative intervension [5]. Sometimes child patients with severe deformity of the legs need to be treated surgically . However, there is more possibility of recurrence than adult patients, therefore, it is expected that surgical intervension should be done after a closure of the growth plate. Moreover, a surgical intervension was a good measure for treating a bowing leg in our adult series. Before the operation, we worried about worse bone formation of adult than that of the child. However, the important points were the control of serum phosphorus during the course [4]. Above that, the question how do you start a correction rises because almost the same deformities were in bilateral legs. The little paper is known for an order of bilateral lower legs correction until now. In this study, the patient who was treated for bilateral femora simultaneously had a severe disturbance in an activity of daily living, because each external Wxators were interrupted. However, this order had some merits. You can have interval after Wnishing correction of bilateral femora or tibiae; furthermore bilateral legs are always symmetric even during the treatment. On the other hand, the patient who was treated one side of the femur and tibia simultaneously can leave the bed because the contralateral leg can bear full weight, however, there were some drawbacks, she sometimes had a knee pain while correction. Moreover drawbacks such as insuYcient exercises of knee joint due to interruption of each external Wxators, a need for a shoe lift for the other leg during correction, and a need for a long treatment period because of the a diYculty in discontinuing the treatment after Wnishing the correction of one leg were present. We corrected one femur using Heidelberg external Wxator, which was eVective in reducing a patient’s burden compared to Ilizarov external Wxator. The patient who was treated one side of the femur and the other side of tibia simultaneously does not have a problem like what was

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shown above. However, this method cannot discontinue the treatment after Wnishing the Wrst two segments of correction either. On the basis of the three cases in this study, the best order of correction is the thought to correct bilateral tibiae or femora Wrst, and then correct the rest for the correction of vitamin D-resistant hypophosphatemic rickets. Bilateral femoral lengthening using a unilateral external Wxator is better because using an Ilizarov external Wxator has disturbances in an activity of daily living. If a unilateral external Wxator cannot be used, each one side of femoral lengthening is better. Or orthogonal correction is thought to be another option if a patient can have a long period of treatment continuously.

Conclusions Distraction osteogenesis by an external Wxator for bowing deformity of the lower extremities due to vitamin D-resistant hypophosphatemic rickets was a very eVective method. It also could apply for adult patients. However, the order of the corrections should be considered carefully depending on each patient.

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