Management of children with congenital arthrogryposis

Nickolaos Laliotis, Christos Milonas, Theodosios Koukoumbis, Georgios Ikonomidis
Institute of disabled children, ELEPAP, General Hospital St. Lukes, Thessaloniki, Greece.

 

ABSTRACT
Congenital arthrogryposis is a rare disease, with involvement of multiple joints that are rigid, deformed or dislocated. Muscles are atrophic; there is a fusiform shape of the limbs, with absent skin creases. It is a non-progressive disease, with normal intelligence and normal sensation of the skin.
We report the orthopaedic problems of six (6) children affected with arthrogryposis. Their ages range from 1 to 12 years old, with mean time of 5 years of follow-up.
The presence of contractures and deformities in the lower limbs was the reason for difficulties in the standing position and walking disability of our children. Early conservative treatment with casts, for correction of deformities, was unsuccessful in arthrogryposis. In contrary there were several complications in the effort of correcting rigid deformities.
All children were affected in the lower limbs. Two patients had dislocation of the hip, rigid, that created leg length discrepancy, pelvic tilt and inability for the standing position. They were treated surgically, with open reduction and periarticular osteotomy of the pelvis.
Involvement of the knee in rigid flexion deformity is an obstacle for standing of the children. In two patients with knee flexion deformity we proceeded in extensive releases of posterior knee muscles, in order to achieve extension of knees. In one patient the flexion deformity recurred two years later. It was further treated with distraction histogenesis, but relapsed partially one year later. In another child, an osteotomy of the tibia was performed, to correct angulation that was the result of early manipulation of the rigid knees. In two children there is full extention of the knees, but there is limitation of knee flexion. They are under observation.
Two patients had severe rigid clubfeet. They were surgically treated with extensive surgical releases. In one patient, partial recurrence was treated with distraction histogennesis (Ilizarov). In other 3 children there was vertical talus, which was surgically treated in two children. The foot was treated when a rigid deformity was an obstacle for the proper plantigrade foot position.
We achieved independence in walking ability in 4 of our 6 patients. Another child achieved the standing position and is expected to walk soon, also independently. The involvement of the upper limb is a further obstacle for ambulation in the arthrogrypotic children. Normal intelligence, effort with a proper family support, with multiple orthopaedic procedures, can improve the motor ability of these children that suffer from a very severe disease.

Key words: Αrthrogryposis, orthopaedic management, hip dislocation, knee contracture, club foot, vertical talus.

INTRODUCTION
Congenital arthrogryposis is a rare, severe disease that is characterized from the presence of rigid joints, with deformities or dislocations. Muscles are atrophic and non-elastic, the skin has no creases, with a characteristic smooth feeling in touching. It is a non-progressive disease. There is normal skin sensation. The disease was first described by Otto in 1841. Several types of the disease have been described but the term multiple congenital contractures is the most appropriate. Amyoplasia is the commonest form[10,21].
No particular etiology has been found, it shows sporadic appearance, but a form of dominant inheritance has been described. Arthrogryposis is associated with oligoydramnio during pregnancy. Today, given the use of prenatal ultrasonography, the presence of reduced mobility is an indication for the presence of arthrogryposis. The incidence is 1 in 3000 births[9,11].
Usually, there is involvement of all four limbs, but affection of only the lower limbs as a diplegic involvement is more common than involvement of upper limbs. The body of the child is usually not affected, but later in adolescence there may be scoliosis.
Arthrogryposis creates severe motor disturbance in children because of deformities and dislocations. We describe 6 children with arthrogryposis. We report the involvement in the lower limbs and the motor development of our patients.

Figure 1. Arthrogrypotic limbs with fusiform shape, with minimal skin crease in the popliteal area.

2a.

2b.
Figure 2. Arthrogrypotic hand.

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3b.
Figure 3. a) Initial picture of the patient with the abducted left hip and dislocated right hip.
b) The radiological picture of the child.

PATIENTS - METHOD
During the period 1995-2003, we treated 6 children with congenital arthrogryposis. Their age at first examination ranged from one week to 8 months. The time of follow-up ranged from 1 year to 8 years. In all patients the diagnosis was made by clinical examination, noticing the characteristic picture of multiple rigid joints, the shape of the limbs, and the absence of skin creases. All patients had involvement of the upper limbs, also (figures 1,2).
In two children there was unilateral high hip dislocation. In one child there was an attempt to reduce the hip dislocation, with a hip spica, in the hospital that he was born. This created a stable position of abduction of the non-affected hip, with acetabulum deformity. The child was then seen at 7 months of age, with abduction of 90° of the left hip and dislocation of the right hip (figures 3a, 3b).
He was first treated with releases of the contracted muscles in the left hip, in order to bring the left leg in a normal position. It was followed 2 months later, with an open reduction and periacetabular osteotomy of the right hip (figures 4a, 4b, 4c). The other child was also treated with an open reduction, at the age of 9 months.

4a.

4b.

4c. |
Figure 4. a) The radiological picture after correction of the left hip.
b) After reduction of the right hip dislocation.
c) Appearance in the standing position, after the operations.

The procedure was difficult, because of the rigidity of the hip. It included release of psoas tendon, of rectus femoris, and the abductors, that permitted thorough cleaning of the hip capsule. After opening the capsule with a T incision, a thick and elongated round ligament was found, that was excised. We didn’t find a reversed limbus. In both children, we obtained good reduction, with no pressure in the head. We didn’t have difficulties with increased anteversion. In order to improve the head coverage, we performed an extra-articular periacetabular osteotomy, by transferring iliac bone at the upper lip of the acetabulum. They remained in hip spica for 2 months. After that, gradual mobilization started. They have both maintained a good reduction of the hip joint.
All our patients were affected in the knee joint. There was characteristic cylinder-type shape of the knee, with absence of skin creases and reduced muscle mass of the quadriceps. Four of our children had their knees in extended position, with less than 10° of lag of extension. This position enabled them to achieve the standing position in 8-10 months of age. The knee flexion varied between 70°-90° (figure 5a).
One child with bilateral fixed flexion of 70°, was treated at the age of 8 months, with extended releases of contractures on the posterior aspect of the knee. During the procedure, we found severe fibrotic and rigid involvement of all posterior muscles, while the capsule of the knee was not as much involved. Histology confirmed the presence of massive fibrotic tissue, with only few muscle fibers. We achieved correction of the flexion contracture up to only 15° lag of full extension. Particular attention was given, during the procedure, for the tension of the popliteal artery and the nerves that were the only elements, with no fibrosis, in the fatty area of the popliteal fossa. The girl, despite her systematic physiotherapy and casting, relapsed in flexion deformity. She was further treated with distraction histogenesis, with Ilizarov, in another institute. Even though extension was achieved one more time, she then relapsed, again, and remains with a severe problem, because of fixed flexion deformity of the knees, inside a complicated family surrounding.
The other girl with flexion deformity initially had intensive physiotherapy, trying to improve the knee contractures. This caused a severe periosteal reaction that resulted in lesion of the apophysis of the tibial tubercle. This produced flexion deformity of the knee that made standing position of the girl impossible. She was then treated, at the age of 3, with osteotomy of the tibia that achieved the full extension of the knee (figures 5b, 5c).

5a.

5b.

5c.
Figure 5. a) Reduced flexion of arthrogrypotic knees.
b) Radiological picture after intensive physiotherapy with periosteal lesion.
c) Angulation of the tibia, before the osteotomy.

All children were involved with rigidity and deformities in their feet. In three patients we found vertical talus. In one child, despite the presence of the lesion, there was adequate plantar position of the foot. In the other two children, because of the foot deformity, we performed surgical correction. This included Achilles lengthening, opening of the subtalar joint from the medial side, correction of the talus position, correction of the navicular, lengthening of the tibialis posterior and of the extensors that had abnormal insertion in the navicular in one child. We succeeded reasonable plantigrade foot in our patients, but with reduced mobility of the ankle and subtalar joint (figures 6a, 6b, 6c, 6d).
In two children we found rigid form of clubfeet (with vertical talus in the other foot in one child) (figures 7a, 7b).
They were surgically treated, with releases and elongation of the Achilles, complete release of tibialis posterior and of the long digit flexors, reduction of the talus position in the subtalar joint. In one child, we had partial recurrence, but it is characterized as adequate plantar position of the foot during her gait. In the other girl, the deformity recurred in the very rigid type. It was treated with the Ilizarov device that improved significantly the position of the foot (figures 8a, 8b, 8c, 8d, 8e).

6a.

6b.

6c.

6d.
Figure 6. a) Bilateral vertical talus, where only one foot has deformity in the shape of the contact area.
b) X-ray of vertical talus.
c d) Foot contact after correction of the vertical talus.

7a.

7b.

7c.
Figure 7. a, b) Appearance of the girl with CTEV and vertical talus, 5 years after the correction,
c) Radiological picture.

8a.

8b.

8c.

8d.

8e.
Figure 8. a) Relapsing of equinus, after 2 procedures.
b, c) Use of Ilizarof device.
d, e) Final result.

RESULTS
We regularly follow our patients; the majority of them are in physiotherapy programs in the institute of disabled children, in ELEPAP of Thessaloniki. Physiotherapy is performed with mild handling, mainly to maintain the range of joint movements and improve the motor ability. These children are normal in intelligence and this helps very much in the goal of motor improvement. This is evident in comparison with children affected from cerebral palsy, where communication is impaired and the motor improvement is more difficult. The use of hydrotherapy, in specially constructed pool, is very helpful to achieve the motor goals. Our children attend normal school.
Four of our children are able to walk independently. One started walking at 15 months, 2 children between 18-24 months, and the last at the age of 2.5 years. Their difficulty now is how to climb stairs or overcome a high road path that requires adequate knee flexion.
Among the two remaining children, one is able to stand up in the supported position and is expected to be able to walk independently, soon. The last girl, with relapsed knee flexion deformities, is in a wheelchair, now at the age of 7, with no further expectancy to stand up independently.
The two children that had open reduction for the dislocation of the hip maintained the reduction. The mobility of the hip allows them to sit without hand support. In the standing position there is no pelvic tilt. We haven’t noticed ischemic necrosis of the head. One child can walk independently, while the other is in the standing position and can walk in the pool. Among the remaining children, flexion of the hip is between 100°-120°, which permits them to have a comfortable sitting position. Extension of the hip up to 10° is adequate for proper position in standing. Only the girl in the wheelchair has hip, movements ranging between 25°-90°.
Retaining the knee extension is important in order to continue having the upright position. In the child that was treated with osteotomy of the tibia, a lag of 10° for the knee extension still remains. Her knee flexion is 70° and 90°, for the two knees, respectively. She remains under observation, with schedule to perform elongation of the quadriceps and arthrolysis, at a later point, to improve the knee flexion. The other children, with exception of the girl with fixed flexion deformities of the knee, have adequate knee extension, while the knee flexion is between 70°-90°. None of our patients have knee flexion greater than 90°.
Regarding the foot deformities, our aim was to achieve plantigrade position of the foot. Despite the reduced mobility of the ankle and subtalar joint, they have a good balance in the standing position. Mobility of the ankle and subtalar joint is severely reduced in all our patients. In the two children that were operated for vertical talus, we used insertion of the inner side of the foot. There are no callosities in the sole. Dorsal extension is 20° while plantar flexion is 10°.
In contrast, the other two children treated for clubfoot, despite the extensive release, have recurrence of the disease. In one child this is mainly in the anterior part of the foot, but is not severely interfering with the acceptable plantigrade position of the foot. In the other child, after 2 operations, only the use of Ilizarov improved the foot position.

DISCUSSION
Congenital arthrogryposis is a very severe disease that creates many problems in the mobility of the children, because of fixed deformities and dislocations of the joints. Children affected from arthrogryposis, because of their normal - up to increased - intelligence, can maximize their reduced range of motion, in order to achieve movements that would otherwise be impossible. It is a reasonable goal to be able to walk independently outside the house. Their intelligence is very helpful during the physiotherapy, where they cooperate well with their therapists. Hydrotherapy is very important while motion in the water can improve mobility of the affected children[2,8,12].
Conservative treatment for arthrogrypotic deformities is not usually successful. We have to avoid longtime treatment with casts. Akazawa et al, in 1998, used a Pavlik harness in 4 of 5 children with hip dislocation, with no result. Also Freidlander et al, in 1968, and Yau et al, in 2002, report the results among 19 patients, where conservative treatment failed for the treatment of hip dislocation. In our group of children, conservative treatment failed and created deformity of the contralateral hip. Efforts to mobilize stiff joints in babies, made a severe periosteal lesion in one child. Physiotherapy of these babies must be performed very cautiously, always within the range of motion that the affected joint permits. Otherwise, severe complications may be encountered.
The incidence of hip involvement in arthrogryposis is high, between 15%-50 % of affected children18. Involvement usually consists of the rigid type, subluxation or dislocation, which is usually high, teratologic type, with external rotation of the hip. The presence of bilateral hip dislocation is a problem, with controversial opinions regarding management. Initially, the proposed management was to avoid reduction, mainly when there was some movement of the hips. Today, there are series in the literature with surgical treatment of bilateral hip dislocations. Staheli et al, in 1987, preferred the medial approach, with reasonably good results. Akazawa et al performed extensive anterolateral approach, achieving good reduction in 5 out of 6 patients. But they report avascular necrosis of the head, in 3 out of these 5 patients. We didn’t have a patient with bilateral hip dislocation, but we believe that in the absence of paralytic bilateral hip dislocation, reduction can help in better mobilization of the affected patients[1,19,22].
In contrast, in unilateral dislocation, surgical treatment is the rule, in order to improve the standing position and walking ability. Adequate clearance of the capsule permits good reduction of the dislocated head. Improvement of the head coverage, with acetabular augmentation, reduces the incidence of re-dislocation. In our series, we used the modified bikini-type anterolateral approach (inguinal), which permitted us to have good access to the joint and acetabulum. All known acetabular osteotomies (periacetabular, Salter, Chiari) have been used. We preferred the extracapsular modified Staheli osteotomy that can give good and easy coverage of the head, avoiding a major pelvic osteotomy. Treatment of muscle contractures (psoas, rectus femoris) is helpful for stable reduction. Maintenance of adequate hip flexion is important for comfortable sitting position. We have not encountered problems with reduced hip movements in our patients. The appearance of recurrence of hip dislocation, the avascular necrosis and, mainly, the painful rigid hip are the main complications that can happen in the surgical treatment of the dislocation of the hip[18,19,22].
Involvement of the knee in fixed flexion deformity is one of the most difficult problems in arthrogryposis. Fixed flexion is a severe obstacle for the standing position of the children. We must achieve full extension of the knee in order to have the children in the upright position. The tension in the vessels and nerves sometimes makes the complete extension of the knee very difficult. The same difficulty can arise from severe skin contracture. There is high recurrence in knee flexion deformity. Performing supracondular osteotomy of the femur is the next approach to the problem. We have to bring the distal part of the femur in perpendicular position to the diaphysis of the femur, in order to extend the knee in cases with severe knee flexion deformity. In this position, only the posterior condylar surface of the femur is in contact with the tibial plateau. But it is the safest approach for protection of vessels and nerves. We used osteotomy of the upper part of the tibia in one child, where the deformity occurred due to lesion of the epiphysis of the tibial tubercle.
Nowadays, the use of distraction histogenesis (Ilizarov) is a promising method for the treatment of fixed deformities of joints. Using appropriate constructions of rings around deformed joints, we can improve their shape. Recurrence, as happened in one of our patients, has a high rate, when the method is used in the knees[3,20,23,27].
Reduced flexion of the knee is an obstacle for climbing stairs. In our series none of the children had knee flexion over 90°, while one patient is scheduled for quadriceps elongation. This has not severely disturbed the motor ability of our children. It seems that reduced knee flexion is a much lesser handicap than the limitation of knee extension, for mobility.
The aim of our treatment for the foot is to achieve a plantigrade foot. Foot deformities interfere both in the standing balance and the walking ability of children.
We found clubfeet and vertical talus in our patients. Fixed clubfoot is difficult to manage in arthrogryposis. There is no place for conservative management in this problem. Extensive release of all contracted elements and reduction of the talus are essential to achieve a plantigrade position of the foot. Removal of the talus is a proposed solution for very stiff feet. It may lead to tibial-calcaneal synostosis, in order to reduce pain. Removal of the talus is a type of amputating procedure - and not one of our favorites. The use of triple arthrodesis is a good procedure to address in cases of very stiff and deformed feet[6,7,13,15].
Recurrence rate in arthrogrypotic clubfeet is high. Use of Ilizarov method is a promising method to improve the shape of deformed feet. We used the method in one child, with satisfactory results[14].
Vertical talus is the other deformity we found that interfered with plantigrade position of the foot. Surgical management is difficult and requires experience in order to reduce the talus position. As it has already been described, we also found the abnormal insertion of extensors or tibialis posterior. Reducing the talus and correcting the position of the navicular, can produce a reasonable shape of the foot. The foot remains fixed in the subtalar and ankle joint. Recurrence is common and, when that happens, arthrodesis is the available treatment. Using soft insoles can improve the function of the foot[4,5,16, 24].
Orthopaedic problems of children with arthrogryposis are many and severe ones. Proper surgical management of deformities and dislocations can improve the mobility of these children[25]. To these problems, we must add the difficulties from the stiff and deformed upper limbs that make simple daily activities, such as eating, dressing, hygiene, etc., difficult.
We can improve their mobility, especially when there is systematic help from the family. Using intensive therapy, in these children with normal intelligence, we can improve these severe deformities in order to make their life as good as it can possibly be.

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Mailing address:
Nickolaos Laliotis
S. Lui Rd, 5, Thessaloniki, 546 22, Greece.
Tel.: 2310 280652
E-mail: orthoden@otenet.gr.