Management of a Child with Multiple Congenital Anomalies

LEO V. TIPPY, C.P.O. KATHLEEN M. KELLER, R.P.T. PERRY L. SCHOENECKER, M.D.


Introduction

The young patient with multiple congenital anomalies presents challenging management problems. We offer this interesting case history as encouragement that there is hope that a patient with multiple anomalies can be made functional. This objective often requires some degree of trial and error, and patience on the part of the family, the patient, and the rehabilitation team. There must also be a definite desire by the patient to achieve peer-group acceptance.

Case Study

C.B. is an 11-year-old white male who was initially seen at 3 months of age. At that time he was diagnosed as having transverse hemimelia of the humerus bilaterally (Figure 1. ), proximal femoral focal deficiency bilaterally, and complete fibular intercalary paraxial hemimelia bilaterally, with partial intercalary adactylia bilaterally (Figure 2. ). Physical examination revealed no other significant problems. The initial short-term goal was for C.B. to achieve sitting balance before any type of prosthetic fitting was attempted. No definitive long-range plan for treatment was made at that time.

At 8 months of age C.B. was fitted with a scooter cart (Figure 3. ). This was a polyester-laminate bucket-type socket with side openings to allow access of the feet and short legs. The bucket was mounted on blocks and attached to a triangular piece of plywood. Casters were mounted at the corners. He soon gained tolerance for sitting in his bucket, and this device afforded C.B. some mobility, since he could move about in this scooter by rocking movements of the head and trunk.

For this patient with both bilateral hemimelia of the humerus and bilateral proximal femoral focal deficiency, a decision was made to fit the upper limbs first. Thus, the patient could be made at least partially independent. Hopefully gadget tolerance could be improved if he was fitted with a device that would be useful immediately. C.B. was fitted with bilateral above-elbow prostheses at 15 months of age (Figure 4. ). A locking elbow and turntable were fitted to the left side since the left humerus was longer. The right side was fitted with a fixed flexed elbow. Dorrance 10AW hooks were used bilaterally, and the left hook was activated. The patient was seen in Occupational Therapy for initial attempts at prosthetic training. Wearing tolerance gradually improved, although the patient did not use these prostheses for any functional purpose. Both hooks were soon changed to Dorrance Model 12P.

At 2 and 1/2 years of age this youngster was still unable to sit without support. He could not talk and could not manage hook openings. Mentation appeared to be very slow, although no formal testing was done at that time.

C.B. was again admitted to the hospital at 3 years, 2 months of age for upper-limb prosthetic training. The prostheses were changed to include activated elbows and terminal devices bilaterally. The patient began feeding himself reluctantly with the aid of a swivel spoon and a plate guard. Lack of motivation was a major problem. A home program was designed for the mother, and the patient was discharged.

Having outgrown his bucket scooter at 4 years of age, C.B. was now able to sit independently. As balance and strength had improved, he learned to scoot about on his buttocks using his feet as a means of propulsion. Because both feet were laterally displaced from the distal tibiae, an attempt was made to fit C.B. with bilateral ankle-foot orthoses with valgus-correcting ankle straps. These were unsuccessful, since the family had difficulty keeping them on the patient at home.

During an admission at age 6 and 1/2 years, C.B. was observed standing on his lower limbs and pushing a wheelchair while resting his upper stumps on the footrest of the chair. C.B. had developed good trunk control, and hip strength was greatly improved. He also let the staff know that he enjoyed climbing up into a little pedal car in Physical Therapy. Using his legs to push, and draping his upper limbs over the steering wheel, he was able to go where he pleased. These actions prompted us to assume that it was time to begin fitting C.B. with lower-limb prostheses.

Measurements were taken, and stubby-type prostheses were fabricated. Oval wooden discs were used as stabilizers instead of feet. Socket canes were also fabricated for the upper limbs, since the patient was unable to handle the more common types of support. C.B. was fitted and sent to Physical Therapy for gait training.

Although C.B. learned to ambulate, he required assistance with prosthetic application, standby assistance while walking, and constant verbal instruction. His balance was fair and his endurance poor, and he was afraid and unhappy. We soon realized the problem with this type of arrangement. Now that C.B. was taller in his lower prostheses, his upper limbs were made nonfunctional for other activities because of his socket canes.

On subsequent follow-up visits it was apparent that C.B. did not wear his lower prostheses. He complained of pain in his distal right humerus. He was admitted to the hospital, and a bursa was excised. At this admission C.B. was 8 years of age. It was felt that the bursa had possibly developed from pressure on the distal stump when C.B. walked on all four limbs. During this hospitalization, prosthetic capabilities were reevaluated. C.B. was willing to wear his upper prostheses but disliked wearing his lower prostheses. They were hot and interfered with his preferred form of mobility, which was scooting on the floor. It was decided to discontinue the lower prostheses until he was more receptive.

C.B. was unable to propel a wheelchair but was able to use the big-wheeled tricycle in Physical Therapy independently. In an effort to give him mobility while retaining his arm prostheses for function, we inverted the frame on a small tricycle and removed the pedals. C.B. could sit on the low seat and push with his feet. He guided the trike by draping his arms over the handlebars. At last C.B. was mobile without assistance or supervision. He began to develop strength in his legs and hips, and general coordination and gross motor planning were noticeably improved. There were secondary benefits from this sudden mobility. C.B. began socializing more and participating in peer-group activities. School work in the hospital classroom showed definite gains. After returning home, he was enrolled in a regular school, and his mother reported that he was adjusting well.

At age 11, both C.B. and his mother expressed a strong desire for the lower limbs to be fitted with prostheses. C.B.'s motivation had improved, and cosmesis was now a consideration as well as progressive function. After discussion with the patient, mother, and staff, it was decided that this would probably be the best opportunity to help C.B. become ambulatory.

Once again prostheses were fabricated. Sockets were fashioned with high lateral walls and with the feet held in equinus position (Figure 5. ). Openings were cut in the anterior distal socket to allow insertion of the feet. A height of 15. 2 cm (6 in.) was added, and SACH feet were used.

Gait training was started in Physical Therapy. Initially, a weighted standard child's walker with front-wheeled extension was used for support. Forearm troughs were fitted to the walker with a crutch handle mounted vertically at the distal end of each trough. Velcro straps were used to secure the upper limbs to the walker, but fastening them required another person; and if C.B. fell, he was unable to free his arms from the walker. The walker had to be lifted, however, in order to turn. To accomplish this maneuver the Velcro straps were removed, and a metal band large enough for the hook and forearm to pass through was riveted to each trough, about two-thirds of the distance from the handle. After flexing the elbow to 90 degrees and locking it. C.B. passes his hook through the metal band and grasps the handle. The

elbows and forearms then rest in the troughs. C.B. was able to move the walker at will. His physical therapy program consisted of independent standing balance in his lower prostheses, transfer training, and ambulation with efforts to increase endurance and function (Figure 6. ).

C.B. was discharged ambulatory with his walker. His mother now reports that he is using all his prostheses at school, and has begun to take a few steps without his walker (Figure 7. ).

Conclusions

In summary, there are several lessons that we have learned from this experience:

  • Don't be too aggressive in initially fitting the patient with multiple congenital anomalies.
  • Don't be overly forceful in demanding that the patient wear his appliances.
  • Wait for indications of a desire on the part of the patient to be fitted.
  • Most importantly, don't be too quick to assign this type of patient to a wheelchair as his sole means of transportation.

Several fittings may be necessary before a design emerges that will fulfill the needs of the amputee. When his specific needs are met, the patient will accept and wear his appliances.