Decision Making for the Child with Multiple Limb Deficiency

LEON M. KRUGER, M.D.


When, on February 14, 1950, Aitken and Franz presented a paper on "The Juvenile Amputee" at the annual meeting of the American Academy of Orthopedic Surgeons in New York City, the discussor, Dr. Atha Thomas of Denver, Colorado, said, "Experience with so many cases of amputation in children is, indeed, rare for the average surgeon, and the literature on this particular phase of amputation is meager." It is interesting to note that when this article appeared in the Journal of Bone and Joint Surgery3, there was no appended bibliography, perhaps confirming Dr. Thomas' observation. It is very likely that this was the first widely disseminated approach to decision making in the care of the limb-deficient child. Since that time numerous articles have appeared; and, with the advent of the publication of the Inter-Clinic Information Bulletin, the experiences of those individuals seeing large numbers of limb-deficient children, and especially those experiences relating to the multiple-limb-deficient child, became available in the literature.

More recently, Phippin, Hunter, and Barricat10 have stated, "Despite the increase in knowledge and skill which has come with experience, the treatment of children afflicted with multiple congenital skeletal limb deficiencies is still a severe challenge." They suggest avenues of decision making, although in the case cited they are frustrated by the refusal of the parents to permit surgery on the lower limbs of the child.

Many articles, particularly in the Inter-Clinic Information Bulletin, deal with isolated decision making for the individual case, while other publications deal with specific decision making in the more common entities such as proximal femoral focal deficiency (longitudinal deficiency of the proximal femur) 1,9 , paraxial fibular hemimelia (longitudinal deficiency of the fibula with or without peripheral deficiencies) 4,7 , and paraxial tibial hemimelia (longitudinal deficiency of the tibia). The complexities of the problems of a patient with multiple limb deficiencies are such that each patient must be handled individually. The simple

bilateral transverse deficiency through the proximal portion of the lower leg (partial hemimelia) is, indeed, handled by the application of suitable prosthetic devices for a B/K amputee. The simple bilateral transverse deficiency through the forearm (partial hemimelia), likewise, is handled by the application of bilateral B/E prostheses. Either child probably will do well with a minimum of training ( Figure 1-A , Figure 1-B , Figure 1-C , and Figure 1-D ).

The lower-limb bilateral A/K or A/K-B/K combination which requires no surgical intervention, likewise, requires a minimum of decision making; and in our experience this problem has been solved by the application of stubbiest prior to prescription of definitive articulated limbs. It should be noted that the bilateral lower-limb-deficient patient who has normal upper limbs, or even one normal upper limb, will ambulate and in most instances will do it well. The bilateral upper-limb amelic or phocomelic patient who has bilateral lower-limb deficiencies will, on the other hand, experience extreme difficulty in getting started in ambulation. With no upper limb with which to pull himself up or with which to balance, he will be unable to develop the musculature in the residual lower limbs and, as a consequence, will experience difficulty in becoming independently ambulatory to any significant degree. This is particularly true of the patient with bilateral proximal femoral deficiency. If such a patient has bilateral upper-limb amelia or phocomelia, ambulation is extremely difficult and, if accomplished, is very much delayed. On the other hand, if the patient has two normal upper limbs or even one normal and one partially deficient upper limb, ambulation will be observed. Thus, prosthetic restoration for lower limbs can be considered when the upper limbs are present. The major decision making arises where more complicated limb deficiencies exist. Each of these patients must be considered independently.

Function must always take precedence over cosmesis. In the very young child,every effort should be made to preserve all epiphyses for future growth and to save any available major joint, specifically a knee joint or an elbow joint. Although for each limb the decision-making process will be governed by the basic philosophy of treatment of the existing deficiency, i.e., longitudinal deficiency of fibula, longitudinal deficiency of tibia, or longitudinal deficiency of the proximal femur, each decision must be made with consideration of the other three limbs.

One must also consider very strongly the parental cooperation which can be expected, the home and school situation, and the accessibility of good prosthetic care.

Case Report

David Lozzi was first examined for multiple limb deficiencies on August 12, 1967, at the age for four months. History revealed that the child was born by cesarean section two days prior to estimated term pregnancy. Birth weight was 2.38 kg. Prior to delivery there was no known complication of pregnancy to suggest that anything was abnormal. The mother was known to have arthritis, for which she medicated herself with Bufferin during her pregnancy; she also took vitamins and diuretics. Family history, back three generations on the paternal side and four generations on the maternal side, revealed no history of congenital anomalies. There is a 10 and 1/2-year-old sibling who is normal.

Physical examination revealed head, chest, abdomen, and spine entirely normal, as were the genitalia ( Figure 2 ). The right upper limb revealed a terminal transverse hemimelia (transverse deficiency through the distal humerus). The left upper limb revealed a two-digit hand, and these digits were thought to be the fourth and fifth. There was a hypoplastic ulna and a radius synostosed to the humerus. The diagnosis was a terminal adactylia 1, 2, 3, with hypoplasia humerus, radius, ulna, and synostosis; this would also be considered as a longitudinal deficiency of the distal portion of the radius, partial carpal 1st, 2nd, and 3rd rays with hypoplasia of humerus, ulna, and synostosis. The right lower limb had an essentially normal hip joint and a somewhat foreshortened femoral segment with the tibia apparently fused to the femur at about an 80-degree angle. There was a question of an epiphyseal line being a knee joint. There was no fibula, and there were only two toes. This deficiency was thus a (terminal longitudinal) paraxial flbular hemimelia 3, 4, 5, also now known as a longitudinal deficiency of the fibula, partial tarsal 3, 4, 5 rays complete with synostosis of the femur and tibia. On the left side the hip appeared essentially normal, as did the femur. There was a definite knee joint with approximately 55-degree flexion deformity. No fibula was appreciated; there were only two rays. This then was a terminal longitudinal paraxial fibular hemimelia 3, 4, 5, also known as a terminal longitudinal deficiency of the fibula complete, tarsus partial 3, 4, 5 rays complete with hypoplasia of the tibia.

While it was felt that definitive amputation surgery would be required, there was a consensus that an effort should be made to save the knee joint on the left as well as the one on the right if it existed. A posterior capsulotomy and hamstring tenotomy were carried out in an effort to straighten the left knee. The right knee was explored and found to be synostosed, and an osteotomy was carried out in an effort to straighten it. The patient subsequently was fitted with braces in an effort to ambulate him. In April 1968, he was fitted with a right above-elbow prosthesis with mitten terminal device. The left knee was maintained with only a residual 5-degree or 1O-degree knee-flexion deformity in the brace. However, the right lower-limb situation was completely unsatisfactory. He accepted his right upper-limb prosthesis quite well. The next year he had a fracture of his right leg on two occasions, and eventually he was fitted with a bent-knee type brace with a pylon to permit ambulation ( Figure 3 ).

At age three the youngster was able to control the elbow-locking mechanism of his above-elbow prosthesis, and his above-average intelligence was easily recognized. At this stage, after considerable discussion with the parents and after giving them a chance to discuss recommendations at home and arrive at a decision, it was decided that he was going to end up a bilateral amputee, A/K on the right and B/K on the left; but it was considered important to make sure that the left knee remained fully extended. Surgery was planned for his fourth year, that is, in 1971, in the form of a repeat posterior release of the left knee and A/K amputation on the right. However, he developed recurrent episodes of tonsillitis and upper-respiratory infection and was hospitalized for much of the next year and was not admitted for surgery until August 1973 ( Figure 4-A and Figure 4-B ), at which time he had a left posterior release at the knee and foot amputation and a right through-knee amputation ( Figure 5-A and Figure 5-B ). Subsequently, syndactyloplasty of his left fingers was carried out.

At delivery of his three new limbs he was admitted, and an in-patient program was started to train him in the use of his limbs. With alignment and fit of sockets completely adjusted, this youngster ambulated very promptly and was discharged after three weeks of in-house training ( Figure 6-A , Figure 6-B , and Figure 6-C ). Since that time he has remained fully and independently ambulatory with no cane or crutch at any point ( Figure 7-A and Figure 7-B ). He was completely independent in the use of his right above-elbow prosthesis, supplemented by the

two digits of his left synostosed arm. The major problem is perspiration, since energy expenditure is great in this individual during ambulation on right A/K and left B/K prostheses. The only other major complication occurred when he fell out of his bed one night and suffered a laceration on the lateral aspect of his left knee, as a result of which he was unable to wear his prosthesis for a period of several weeks.

Conclusion

It is evident from this case that, in the very early weeks or months after birth, it sometimes is not possible to be certain of the existing limb deficiency. This fact is particularly true in patients with proximal deficiencies of the femur and deficiencies at the knee joint, since ossification centers have not yet appeared to give us the total X-ray picture and we must rely on the clinical findings. In such cases it is wise to temporize, making every effort to prevent increasing deformity and, if possible, to correct existing deformity as early as possible.

It has been our experience that, in the clinic atmosphere, the recommendation to ablate a foot or to amputate through knee level is never an easy one to make to a parent. The parent sees the foot as an essentially normal appendage and would prefer that it remain. It is difficult with words, diagrams, X-rays, and photographs to explain to a parent how the philosophy of amputation surgery will benefit the small patient. In the clinic it is possible for the parent to see other children with similar deficiencies at various ages of development, and it is possible for the parent to speak with the parents of other children who have had similar amputation surgery. One should avoid the "hard sell" technique with such parents and preferably should offer them the opportunity to make their decision in the form of an "informed consent" the condition having been described, the proposed surgery having been described, the parents having had an opportunity to observe children with a similar problem and then, most importantly, the parents having had an opportunity to go home to think about it prior to making a decision.

References:
1. Aitken, G. T., Proximal femoral focal deficiency. National Academy of Sciences, 1969, Standard Book #3O9-O1734-3.

2. Aitken, G. T., and G. H. Frantz, Amputation for lower extremity congenital abnormalities. J. Bone Joint Surg., 41-A:1267-1285, October 1959.

3. Aitken, G. T., and G. H. Frantz, The juvenile amputee, J. Bone Joint Surg., 35-A:659-664, July 1953.

4. Coventry, M. B., and E. W. Johnson, Jr., Congenital absence of the fibula. J. Bone Joint Surg., 34-A:4:941-955, October 1952.

5. D'Onofrio, F., and P. Cope, Crutches for the quadrimembral amputee. Inter-Clin. Inform. Bull., 11:11:13 15, August 1972.

6. Kruger, L. M., The use of stubbies for the child with bilateral lower-limb deficiencies. Inter-Clin. Inform. Bull., 12:12:7-15, September 1973.

7. Kruger, L. M., and R. D. Talbott, Amputation and prostheses as definitive treatment in congenital absence of the fibula. J. Bone Joint Surg., 43-A:5:625-642, July 1961.

8. Kuhn, G. C., Treatment of the child with severe limb deficiencies. Inter-Clin. Inform. Bull., 10:3-S:1-26, December 1970.

9. Lamb, D. W., D. C. Simpson, and R. B. Pine, The management of lower limb phocomelia. Inter-Clinc. Inform. Bull., 12:1:11-15,October 1972.

10. Phippen, W., J. M. Hunter, and A. R. Barakat, The habilitation of a child with multiple
congenital skeletal limb deficiencies. Inter-Clin. Inform. Bull., 10:10:11-16,July 1971.

11. Vollradt, C., Physiotherapeutic treatment of dysmelic children. Inter-Clinc. Inform. Bull., 10:3:1-14, December 1970.