Upper-Extremity Limb Deficiency With Concomitant Infantile Structural Scoliosis
Charles H. Epps, Jr., M.D.
The normal difficulties involved in the management of the child with severe limb deficiencies are compounded when the patient also has infantile scoliosis.
At D.C. General Hospital we currently have under treatment four patients with amelia, transverse hemimelia, or phocomelia, plus concomitant infantile scoliosis. The oldest patient is nine years of age and the youngest, nine months. In each case the scoliotic curve appeared early and progressed with time.
The histories of these four patients, which illustrate the complexities of the problem, provide the basis for this report.
Case No. 1
J. L, a male patient born April 27, 1960, was first seen in the clinic one week after his birth. The pregnancy and delivery had been uneventful, and no evidence of drug ingestion or familial congenital deformity was obtained. Examination revealed bilateral upper-extremity amelia with complete phocomelia of both lower extremities.
In November i960 the patient was initially fitted with a Canadian "bucket-type" prosthesis mounted on a spring steel support and platform. This device facilitated head and trunk control and after casters were applied to the platform, the boy soon learned to "ambulate" about the floor, using "body English" to control the movements of the platform.
A conventional shoulder disarticulation prosthesis with a passively operated elbow-locking mechanism was fitted to the patient's right side in October 196l. He received training in the use of the prosthesis and was ready for active nudge control of elbow lock and unlock in March 1962. Since that time he has made rapid progress and learned to feed himself with special utensils.
Early in his first year, J. L. developed dorsolumbar scoliosis, T6-L2, with convexity to the right. The magnitude of the curve has increased progressively, and at the last examination it measured 46° (Fig. 1A Fig. 1B Fig. 1C Fig. 1D ). Throughout this period he has had an intensive program of asymmetrical trunk and stretching exercises in physical therapy as well as stretching activities conducted at home. He attends kindergarten at the City's Health School in a wheel chair adapted for functional use.
Case No. 2
T.W., a male born March 21, 1959, was admitted to the Clinic at nineteen months of age. The family history was negative with respect to congenital defects. The pregnancy and delivery had been uneventful. Clinical examination revealed an upper-extremity congenital deficiency (right short transverse hemimelia and left distal phocomelia), plus right dorsolumbar scoliosis.
At twenty-one months of age the child was initially fitted with bilateral shoulder disarticulation type prostheses (an active terminal device on the right side only). Eight months later the left prosthesis was discontinued and a nudge control replaced the passive elbow lock on the right.
In 1963 it was noted that the scoliosis (T7 - L2) was increasing rapidly. The curve had then progressed to 35°. The treatment program consisted of a stretching and positioning routine conducted by the physical therapist on an outpatient basis and daily by his mother at home. By 1964 the curve had progressed to 68°; in September 1965 it measured 8o° (Fig. 2A Fig. 2BFig. 2C ). An attempt to hold the patient in a plaster jacket was unsuccessful. This device increased the child's heat regulation problem. He is currently being considered for Milwaukee bracing. Thus far we have elected not to attempt surgical fusion, as the patient is only six years old. T.W. attends parochial school.
Case No. 3
C.B., a female horn October 13, 1956, came to the attention of the clinic in April 1957. According to her mother the pregnancy and delivery had been uneventful. There was no history of congenital anomalies in the family. Examination revealed bilateral distal phocomelia in the upper extremities and a right dorsolumbar scoliosis.
Bilateral nonstandard shoulder disarticulation type prostheses were initially fitted in March 1959 when the primary scoliosis curve measured 40°. The patient rapidly developed facility in the use of the prostheses, although she continued to use the two phocomelic digits of her left upper extremity for close prehension. She used these digits with considerable dexterity and utilized them to operate the inside elbow-locking mechanism. Moreover, an anterior opening in the humeral section of the prosthesis permitted the use of these fingers for numerous additional activities. The left prosthesis was eventually discontinued, but she continued to use the right limb for distant prehension and her natural fingers for close prehension.
By October 196l the scoliosis had progressed to 60° (Fig. 3A ). C.B. was admitted to inpatient service and a Risser localizer cast applied. In March 1962 a spinal fusion (from T7 - L3) was performed utilizing Harrington instrumentation (see Fig. 3B ). Because of her size, only the distractive rod could be applied. Following the operation there was some loss of correction from the immediate postoperative 25°; but the apparatus became stable, and the spine fused. The curve has been maintained at approximately 32°. After the cast was removed, the patient resumed wear of the right prosthesis and regained her former dexterity. When last examined in September 1965, her back was well compensated (Fig. 3C ), and she was doing well in regular school.
Case No. 4
T.P., a male born January 7, 1965, was first seen in the clinic at one month of age. This was the first pregnancy for the mother and gestation and delivery were uneventful. There was no history of drug ingestion or familial congenital deformities.
Examination revealed bilateral upper extremity amelia, plus distal phocomelia of the lower extremities with paraxial deficiency of the fibulae, a right equinovalgus and a left equinovarus foot. Torticollis was also present. Serial casting has corrected the right foot, and correction of the left foot is progressing by the same method. The torticollis has also been corrected.
The patient has developed good head balance and is beginning to develop good trunk balance. When he is in the sitting position, a right dorsal scoliosis (T3 - Ll) is evident. Roentgenographic examination in September 1965 revealed that this curve measured 30° (Fig. 4A Fig. 4B Fig. 4C ). A "bucket-type" prosthesis with spring steel support mounted on a platform is under construction.
The achievement of a satisfactory prosthetic result in treating the bilateral amelia or phocomelia is in itself a considerable challenge. Typically the available sources of body power are inadequate to meet the requirements of two conventional prostheses. Furthermore, the body motors that are available are usually marginal in respect to forces and excursions.
Children with these types of major deficiencies also lack a considerable amount of normal body surface area. They have a heat regulation problem of considerable magnitude, particularly if there is also a deficiency of the lower extremity. When additional areas of the body are covered with one or two prosthetic "shoulder caps" their heat regulation difficulty is accentuated.
When the limb deficiencies are accompanied by a rapidly progressive structural scoliosis, as is usually the case, the physician is faced with a dilemma. Correction of the scoliosis in the very young child is not only difficult, but it could also hinder prosthetic management.
In planning a treatment program to take cognizance of this scoliotic involvement, our rationale with our patients has been as follows:
In Case No. 1 the scoliosis progressed from 20° in 1962 to 46° in 1964. An exercise and stretching program vas employed to maintain mobility of the patient's chest and curve.
With bilateral upper-extremity amelia and complete phocomelia of the lower extremities, this boy lacks more than fifty percent of his body surface area. Consequently, heat regulation has been a major problem, particularly during warm weather when any "type of jacket is impracticable. The prosthetic appliance being used has been ventilated to decrease heat. It is activated by chest expansion, accentuating the need to maintain mobility of the chest. If J.L.'s body configuration permitted application of a Milwaukee brace, he would necessarily have to abandon his prosthetic appliance when the brace was worn. Presumably, the Milwaukee brace would also further reduce the body surface area available for heat regulation. With the continued progression of the scoliosis the question of surgical correction has been considered. However, surgery will be delayed as long as practicable, since the prospect for a satisfactory result improves with age.
In Case No. 2 the curvature has been characterized by progressive deterioration. This boy is now six years of age, and his scoliosis has increased from 30° in 1962 to 8o° in September 1965. Despite this increase he has maintained the compensation which is characteristic of infantile scoliosis. A localizer jacket was tried on this patient without success.
T.W. has a well developed pelvis and lower extremities, and perhaps he could tolerate a Milwaukee brace. This method of treatment is under consideration. However, one distinct disadvantage would be a virtual elimination of his prosthesis on which he is dependent for prehension. Moreover, while wearing the Milwaukee brace he would be unable to use his feet for manipulative activities as he now does at home.
Heat regulation with this patient is a factor, although the problem is not as critical as in Case 1, because T.W.'s loss of surface area is approximately 18 percent.
If progression of the curve does not force surgery, spinal fusion will be deferred until the patient is older.
In Case No. 3 spinal fusion was performed with gratifying results to date. At three years of age the patient's curve measured only 35°, but progressed to 60° by the time she was five years old. Consequently, localizer correction, fusion and Harrington instrumentation were performed. The size of the patient and texture of the bone made the procedure technically difficult. It was possible to place only the distractive rod on the concave side of the curve, and there was some loss of correction during the immediate postoperative period. However, her spine remains compensated (Fig. 3C ), and she has resumed wearing her prosthesis with her former skill.
During the necessary period of immobilization following surgery she lost a degree of dexterity in foot manipulation.
In Case No. 4 the scoliosis has progressed noticeably, although the patient has not yet reached his first birthday. Comparison of recent x-ray film with the first ones taken (Fig. 4A Fig. 4BFig. 4C ) shows progression of the curve to 30°.
T.P, has now acquired sitting balance and will soon have a "bucket" (flower pot) prosthesis. A shoulder disarticulation prosthesis for the upper extremity will follow shortly thereafter. With more than one-third of his body surface area absent, heat regulation has been and will continue to be a problem for this patient.
An observation of interest to us was that all of these patients with limb deficiencies had dorsolumbar curves with convexity to the right. Moreover, the roentgenographs films of the curvatures were remarkably similar (Fig. 1C , Fig. 2B , Fig. 3A , Fig. 4A ). The majority of cases reported in the literature appeared to have left dorsolumbar curves.
Although the literature of infantile idiopathic scoliosis and infantile structural scoliosis is not extensive, the collective experiences apparently follow a consistent pattern.
James, Lloyd-Roberts and Pilcher 1 described two types of scoliosis: the resolving and the progressive types. The resolving variety is characterized by a tendency to disappear spontaneously without treatment, usually in the first few years of life. Such curves are usually long, measure less than 35° and are not compensated. Conversely, the progressive curve deteriorates rapidly to measure more than 70° and is often 100° by the time the patient reaches maturity.
In the progressive type, surgery is necessary to halt the natural development of the curve, according to James and his colleagues. However, if possible these authors prefer to delay surgical correction until the patient is at least ten years of age. Therefore, from infancy to three and a half years of age the localizer cast is recommended, following which a Milwaukee brace is applied. This brace was found to be effective in delaying surgery for periods up to five years. In a number of patients between the ages of three and a half and ten years treated in this manner the scoliosis had not deteriorated; in some cases correction ranging from 10° to 40° was reported.
The experiences reported by Morgan and Scott2 were less encouraging. Of twelve patients between five and fourteen years of age, only one appears to have benefited from surgery.
It is apparent that the limb deficient child with infantile scoliosis presents a unique set of problems. A Milwaukee brace worn for a lengthy period would
seriously curtail, if not preclude, the use of a prosthesis. Heat regulation problems would also be increased. Conversely, without the brace the infantile curve invariably deteriorates and surgery may have to be performed before the patient reaches the optimum age.
Our experience, although limited, does suggest that Harrington instrumentation may offer a means of stabilizing these spines during fusion, although external plaster support is still utilized.
It has occurred to the writer that a patient who requires Milwaukee bracing might be fitted with a nonstandard prosthesis utilizing external power and still maintain a functional amount of prehension.
Because the number of patients in our sample is quite small, they serve merely to emphasize the problem without giving rise to conclusions concerning treatment. If other clinic chiefs have resolved the problems described in this report, we would greatly appreciate hearing of their methods.
Charles H. Epps, Jr., M.D. is the Clinic Chief of Juvenile Amputee Clinic Department of Public Health District of Columbia General Hospital Washington, D.C.
1. James, J.I.P.,Lloyd Roberts, G.C. and Pilcher,M.F. Infantile Structural Scoliosis, J. Bone and Joint Surg., kl-B:719-735, Nov. 1959.
2. Morgan,T.H. and Scott, J.C. Treatment of Infantile Idiopathic Scoliosis, J. Bone and Joint Surg.. 38-B:^50-457, May 1956