Management of Tibial Hemimelia
Transcription
Management of Tibial Hemimelia
Management of Tibial Hemimelia Hassan El-Barbary, M.D. -- In type I1 the proximal part of the tibia is ossified and Tibial deficiency, or tibial hemimelia is a rare, longitudinal visible on radiographs at birth, intercalary limb deficiency involving the osseous and soft tissue but the distal tibia is not seen. components of the medial portion of the leg. Treatment options for such pathology varies according to type of deficiency as well as to In type I11 the distal part of the culture and acceptance ofparents to different treatment modalities. In tibia is ossified and visible, but this study we classified twenty nine limbs according to Jones the proximal portion of the classification into 13 type ZA, 3 type IB, 4 type ZZ, no limbs type IIZ tibia is absent. This is the least and 9 Iimbs type IV. W e present our protocol of treatment for such cases and the results and follow up as we tried to salvage all limbs. common form of tibial hemimelia. In type IV the tibia is short and there is distal tibioINTRODUCTION found effects on vertebrates limb fibular diastasd4). morphogenesis, where it can act Most of the calses of tibial ibial deficiency, or ti- as teratogen generating phocobial hemimelia is a melia and bone defects. A Reti- hemimelia has associated musrare, longitudinal inter- noic acid gradient, possibly culoskeletal a n ~ r n ~ a l i e s ( ' ~ ~ ~ ~ ~ ~ ) , calary limb deficiency involving amplified by a graded distribu- including scoliosis, hip dysplathe osseous and soft tissue tion of cellular Retinoic acid - sia, bifurcation of the femur(7), components of the medial por- binding protein (CRABP), could ray reduction or polyductyly of The foot in tibial tion of the leg. It is a syndrome provide positional information the of partial to complete absence across the antero-posterior axis hemimelia although rarely appear clinically complete, it alof the tibia at birth. It has an of the limb bud(3). ways has osseous abnormalestimated incidence of 1 in 1 million live births. Both autoThe most widely accepted ities@). soma1 dominant and recessive classification is that proposed Patients with complete abpatterns are by ones(^). The Jones system sence of the tibia (Jones type I classifies tibial hemimelia into A) will have a k:nee flexion The specific cause for tibial four types, based on radio- contracture('). Whien there is hemimelia is still unknown. Limb graphic features present during complete absence of the tibia, bud development begins ap- infancy. In type I the tibia the child normally has hamproximately at 4 weeks postovu- cannot be seen on radiographs string function but not quadlation, and continues until the at birth. In subtype IA the tibia riceps function, the patella is end of the embryonic period at is completely absent. In this typically absent, and the foot, approximately 8 weeks. Mechan- type the ossific nucleus of the which is fixed in severe varus, ical or chemical insult during this distal femoral epiphysis is small has minimal functional moveperiod can cause a variety of or has not appeared at birth. In ment(''439). In patients with different congenital deformi- subtype IB the proximal part of Jones types IB and I1 deformities('). Whatever the cause, it is the tibia is present, but because ties, hamstring and quadriceps clear that the development of the it is not ossified at birth, it function is normal and the knee entire sclerotome is affected. appears to be absent. In this moves normally. The fibular However Retinoic acid has pro- type there is normal ossification head will be displaced proxiof the distal femoral epiphy- mally and laterally, and the s~s(~). limb will be in a varus position, ABSTRACT Vol. (7) No. (2)/ July 2003 125 Tibia1 Hemimelia with significant varus instability. At the ankle joint, the foot is displaced medially relative to the fibula, and will also be in varus@,'O). In Jones type 111 deformity, the knee is unstable and there are extra digits distally. The tibia1 shaft is palpable, and there is a severe varus deformity of the leg. In patients with a Jones type IV deformity, in which there is a diastasis of the distal tibia and fibula, the limb is moderately short and the foot is in a severe, rigid varus, positioned between the tibia and Treatment options for such pathology varies according to type of deficiency as well as to culture and acceptance of parents t o different treatment modalities especially amputation. Also surgical technique and the development of proper prosthetic manufactures have great role in treatment opt i o n ~ ( ' ~ ~ ~ ~In~ *this ~ ~ study -'~). 29 nine limbs are classified and treated trying to preserve limbs in all cases and patients in different age groups were assessed after different treatment modalities. MATERIAL & METHODS: In this study, 29 limbs in 22 patients with this extremely rare anomaly were treated during the period of September 99 to December 2002. Some cases were treated by a way o r another before presenting to us. The age of patients ranged from one to seventeen years with a mean of 6.8 years. The study included 16 (73%) (5 bi1ateral)males and 6 (27%) (2 bilatera1)females with a ratio of 126 2.7 : 1. According to Jones classification, we had thirteen limbs (45%) with type I-A defect, three (10%) with type I-B defect, four (14%) with type 11, none with type 111 and nine with type IV (31 %) (Fig. 1). Nine patients had positive family history (40%), we had two brothers and their two cousins (all boys) with variable degrees of affection, only one parent was affected but their grand father had type I unilateral affection. Another boy with type IV had his cousin (girl) with one side type IV and the other side type 11. Bilateral affection was found in 7 patients of the 22 patients (32%). All patients had associated anomalies, the commonest was lobster hand 13 patients (59%) (Fig.2), bifurcation of the femur 6 cases(27%) (Fig.3), ray reduction of the feet 12 cases (55%) and polydactyly in 4 cases(l8%). However non of the cases had a normal big toe. We didn't diagnose any anomaly in the cardiac, genitourinary or gastrointestinal systems although we did abdominal ultrasonographic examination to all patients. Foot deformity in the form of equinovarus deformity and knee flexion deformity with varying degrees was present in all cases despite the fact that some cases had previous trials to correct the foot. Shortening varied according to age, severity of affection and previous trials to correct the defect, however the limb length inequality ranged from 7 cm to 18 cm in unilateral cases and even in bilateral cases a difference of 4 cm was found in one patient. All cases underwent thorough history taking, examination, radiographic assessment by both X-ray and some times scanogram when lengthening was planned. Abdominal ultrasonography and rcutine lab investigations were done in all cases prior t o any surgical interference. Our plan of treatment was as follows: We never tried foot ablation as advised by many authors as this is not accepted in our culture in Egypt and was always refused by parents of children. First we try to explain the magnitude of the problem and that multiple and repeated surgeries are needed and that the problem is ongoing and ends only after adolescence. Also we explain to the parents that amputation might be the only choice during any time through the coune of the treatment. Also parents should be informed that tlhe type of gait for unilateral type IA defect is much worse than with a well done prosthesis. We tried daily manipulation and stretching exercise by the babies mother and used plastic splints in the best allowed position till the age of one year. Release was done to all feet and centralization of the fibula to the talus was done in all cases above the age of one year (Fig.3). Fibular shortening was needed in older children (above 3 years). Bilateral cases were done simultaneously. Protection of these feet in splints continued till the next operation. In type IV, Correction of Pan Arab J. Orth. Trauma Hussun El-Burbary, M D Fig. (I): (a) incidence of different types in our study. (b) Different types of tibial hemimelia: 1. Type Ia 2. Type 1 b 3. Type Ii 4. Type IV Vol. (7) No. (2)/ July 2003 Fig. (2) (a) Photos of hand anomalies. (b) X-rays of hand anomalies. foot deformity and tibiofibular synostosis after fibular osteotomy with or without tibia1 osteotomy was done in all cases. We tried to centralize the talus in a trough in the distal end of the fibula and tibia. Again fibular shortening might help in some cases. Concerning Knee pathology, we found it easier to deal with after the age of two years. For type IA, inserting the proximal fibula in a small trough in the distal femur was done and kept in position with K wire (Fig.3). For type IB, inserting the proximal fibula into the cartilage remnant of the tibia and fixing them by K wire was done (Fig.4). In type 11, tibiofibular synostosis was done after having good bone stock to get a successful fusion, this is usually done after three years of age (Fig.5). All cases were protected in above knee splints till the age of five years, to protect the correction and to help the child to walk. Above the age of five, any limb length inequality, knee or foot deformity were gradually corrected by Ilizarov ring fixator. In type IA lengthening is done through two focuses, the femur and the tibialised fibula (Fig.6). In all other types, only the tibia is lengthened but bridging the knee is extremely mandatory as it is always unstable (Fig. 7). Ilizarov fixator was used for lengthening and or correction of deformities in eleven limbs, seven with unilateral pathology and two with bilateral pathology. All eleven cases are presented in table 1. After achieving full limb length correction t o equal length or even t o a longer length and after correcting all deformities, the fixators were removed after a total time ranging between three and eight months with a mean of 5.8 months. The summary of treatment protocol adopted in our study is shown in table 2. RESULTS: The follow up time ranged from six months t o thirty months with a mean of 17 months, and as this is an ongoing pathology, the ultimate result is best evaluated after skeletal maturity when the problem is stationary. All our patients were able to walk without walking aids. All limb length inequality for patients younger than the proper age of lengthening used shoe lifts or plastic braces to be able to walk. Also all cases with bilateral type IA used above knee braces to walk without walking aids below the age of two. We had all feet clinically improved, but residual equines was found in thirteen feet nine of them type IA and four type Pan Arab J. Orth. Trauma Fig. (3) (a) Photos of 6 month old boy with bilateral type I tibia1 hemimelia. (b) X-ray of same boy after proximal and distal centralization (note femoral bifurcation on rt side). (c) Photo of same child at 2 years of age with full weight bearing. ib) Fig. (4) (a) X-ray of type IB preoperative. Vol. (7) No. (2)/ July 2003 (b) 6 month post operative. (4 (b) Fig (5): (a) X-ray of normal side -- - (b) X-ray of type II preoperative (c> (c) X-ray after tibio fibular fusion Table I:Cases treated by llizarov 11 11 Cases - T v ~ eIA Type IA - - - Type IA Type IA 11 Type IA Type II Type II I Procedure I Lenqtheninq 18cm (bifocal)and correction of knee flexion and ankle equines - -- - - 11 11 Lengthening 1&m (bifocal)and correction of knee flexion and ankle equines Lengthening 9 cm (bifocal)and correction of knee flexion and ankle equines Lengthening 8cm (bifoca1)and correction of knee flexion and ankle equines I Lengthening 9cm (bifoca1)and correction of knee flexion and ankle equines Lengthening 14cm (monofocal) and correction of ankle deformity 11 Lengthening 9cm (monofocal) and correction of ankle deformity Type II (bilateral) Correction of sever equines and external rotation together with lengthening of both sides (8 & 4 cm) to equalize length and to have better appearance Type IV (bilateral) Correction of sever equines and varus deformity at 13 years of age Table 2: Treatment protocol adopted in our study. 11 I Type IA I Procedure Tibialisation of distal fibula and correction of foot deformity at 1 year age or age of presentation Tibialisation of proximal fibula at 2 years or age of presentation. Lengthening of both femur and fibula simultaneously to correct shortening and any residual deformity was done after age of five IB Tibialisation of distal fibula and correction of foot deformity at 1 year age or age of presentation Inserting proximal fibula into the cartilaginous analogue of the proximal tibial at 3 years of age. Lengthening of tibialised fibula to correct shortening and any residual deformity was done after age of five II Tibialisation of distal fibula and correction of foot deformity at 1 year age or age of presentation Tibiofibular svnostosis after 3 vears of aqe. Lengthening bf tibialised fibulato correct shortening and any residual deformity was done after age of five IV Correction of foot deformity and tibiofibular synostosis after fibular osteotomy with or without tibial osteotomy Lengthening to correct shortening and any residual deformity was done after age of five Pan Arab J. Orth. Trauma (4 Fig. (a) (b) (c) (d) (6) X-ray of type la preoperative in 3 years old girl. Photo of same girl. X-ray showing bifocal lengthening through fernur and tibialised fibula Photo of same girl after full lengthening. Vol. (7) No. (2)/ July 2003 Tihial Hernimcliu Fig. (7) (a) X-ray of girl with type II defect after foot corr~ctionand tibiofibular fusion. (b) X-ray showing the girl during lengthenir~g. (c) X-ray of sarne girl after removal of Ilizarov. (d) Scanogram showing equalization of limb length. (e) Photos of same girl 1 year after lengthening with good alignment and perfect knee range. Pan Arab J. Orth. Trauma fIu.s.san El- Barbary, M D Photo of 3 month old boy with bilateral type IV defect (I I years before presenting to us). X-ray at age of 2 years (operation done before presenting to us). X-ray of same child with equines. X-ray after correction by Ilizarov. X-ray after removal of Ilizarov. Photos of same child 18 months later with plantigrade foot. Vol. (7) No. (2)/ July 2003 Fcdenco Svhoeneckcr Our stud\ Fig. (9): Incidence of different types of tibial hemimelia in different studies. IV. The equines was mild about 10 degrees in all but two limbs with type IV and didn't affect the ability of walking well. These two feet (type IV) with fixed equinovarus deformity of about 40 degrees needed a redo operation where we did a tibial osteotomy and corrected the deformity. Another major problem in type I and type I1 was instability of the fibulo-talar articulation in three feet (Fig.3). Two of them needed a redo operation at the age of five to fuse the joint, after the arthrodesis all three patients walked well without a brace. Skin sloughing occurred in two feet (type IV) and both healed by repeated dressing for a month. Concerning knee pathology, all cases with type IA deformity, the knee was found to be stiff in most cases with about 10 to 20 degrees of knee flexion deformity. Flail knee was never encountered in our study. Tibio-fibular union occurred in all but one limb in types IB and one in type 11. This cases had successful union after revision of the operation (Fig.5). All knees had satisfactory range of flexion and extension (Fig. 7,8), mild varus valgus instability could be elicited in all limbs with type IB and in 2 limbs with type 11. In nine limbs the Ilizarov was used to treat shortening, limb deformity, knee flexion and ankle deformities. Lengthening of nine limbs with average length gain of 9.9 cm. The lengthening index for type IA (bifocal) was 2.3 cm/ month (Fig.6) and for other types w a s 1 . 3 c m l m o n t h (Fig.7). All of the deformities were originally corrected but partial relapses were encountered during follow up (mild varus and flexion deformitv). In one patient with bilateral type IV defect, Ilizarov was used to correct equinovarus deformity with foot adduction and the fixator was removed after 3 months. The foot was completely corrected and the child gait much improved (Fig.8). During the lengthening procedures, minor complications as pin tract infection, episodes of pain was encountered and all resolved by proper cleaning and antibiotic therapy. After removal of the Gxator. knee stiffness and mild flexion deformity developed in types IB, I1 and IV, but after proper physiotherapy good range was obtained with no flexion deformity. No major complications as neurovascular injury or skin sloughing were encountered. To summarize the results, in type IA, all p,atients below the age of 5 can walk with braces, shoe lifts in unilateral cases. Above the age: of 5 years, after Pan Arab1 J. Orth. Trauma Hassan El-Barbary. M D lengthening and correction of deformity, they can walk without any aid, but of coarse, the gait is ugly and needs more energy expenditure than if through knee amputation and prosthesis were used. For type IB, type I1 and type IV, all patients below the age of five can walk with braces, shoe lifts in unilateral cases. Above the age of 5 years, after lengthening and correction of deformity, they can walk without any aid, they had good knee range, stiff ankles but their gait is comparable to cases treated by amputation and prosthesis and even better because they have a sensible foot. DISCUSSION: In this series we vresent twenty nine limbs in this extremely rare anomaly. Our study included 21 limbs in 16 males (73%) and 8 limbs in 6 females (27%) with a ratio of 2.6:l. In the study of Federico F.et a ~ . , ( there ~) were 7 males (39%) and 11 females (61%) and Javid M et a1.(12)presented 3 limbs in males (33%) and 6 limbs in females (67%). The study of Schoenecker p1(14) included 14 males (67%) and 7 females(33%). The different types of tibial hemimelia according to Jones classification is shown in table 3 and figure 9. The series of Javid M et included no cases type I because only cases treated by Ilizarov are included. In all other series including ours, type I was the commonest followed by type IV then type I1 and type I11 was the most rare(12'14). However type 111 wasn't encountered at all in our series. The incidence of bilateral affection was 32% in our series, 18% in the series of and 31 % in Federico F.et the series of Schoenecker p1(I4). in our series was both autosoma1 dominant and recessive. Richieri - Costa A et a ~ . (had ~) the same conclusion that both modes of inheritance are found, however Federico F. et al. and Schoenecker P1 reported only autosomal dominaint inheritance('2,'4) Concerning the incidence of various associated ;anomalies, table 4 shows the prevalence of the most common anomalies in different studies. The protocol of treatment we adopted in this study differs for Type IA with other aUthors(l,4.6,8,931 1-16) hi^ is be- cause foot ablation or knee disarticulation adopted by others is not accepted in our country. One of our patients had been scheduled for ampuThe incidence of familial tation two times before our inheritance was found in 40% treatment and his mother reof our patients (9 patients with fused the operation ait the night 14 limbs). This is a very high of the operation till he preincidence in comparison to sented to us at the age of eight Federico F.et a ~ . ((18%) ~) and years with no previous treatSchoenecker p1(13) (23%) and ment for unilateral tibial hemitype IA. Another girl Richieri - Costa A et a ~ . ( ~ melia ) (3 1%). The mode of inheritance presented at the age of seven Table 3: Incidence of different types in different studies I Type Type Type Type Type Total IA I6 11 111 IV Federico F.et al(" 1 Javid M et a\('') I 0 0 5 (56%) 1 (11%) 3 (33%) 9 9 (41%) 4 (18%) 3 (14%) 2 (9%) 4 (18%) 22 Schoenecker I our (s- 8 (38%) 3 (15%) 4 (19%) 13 (45%) 1 (5%) 5 (24%) 21 0 9 (31%) 29 Table 4: Associated anomalies in different studies. Associated anomaly Lobster hand Polydactyly of hand bifurcation of the femur Ray reduction of the foot Cardiac, genitourinary and gastrointestinal anomalies Vol. (7) No. (2)/ July 2003 Schoenecker p1(I4) Federico F.et a16) 6 (27%) 7 (32%) 4 (18%) 1 (4.5%) 2 (9%) I 9 (43%) 2 (9.5%) 5 (24%) 0 0 15 (52%) 4 (14%) 8 (28%) 18 (62%) 0 1 Tibia1 Hemimelia with repeated trials of correction and wearing a bulky AKA prosthesis and refusing any kind of amputation. A third girl presented at the age of sixteen with short deformed type I1 hemimelia and wearing a bulky BKA prosthesis and refusing any amputation for the right side and untreated type IV on the other side. Although our results are much inferior to other authors concerning appearance, gait, energy expenditure and the fact that multiple surgeries are needed, still in our country foot preservation is a priority even with a worse function than with a prosthesis('36393'4916) Concerning other types, several treatment options are adopted by different authors according to culture, parents acceptance to amputation, expenses of surgery and governmental sponsorship, surgeons experience and the development of proper prosthetic manufactures (1,6,9,10,12,14,16).ln the series of Federico F. et a ~ , (in ~ )22 limbs amputation was the solution in 13 limbs and foot ablation in five while only four limbs with type IV defect needed correction of foot deformity and lengthening. In the series of Schoenecker p1,(I4) all limbs had either knee disarticulation or syme amputation after tibiofibular fusion. having younger age group in our series, also the two limbs that needed only correction of their deformity without lengthTable 5 analyses different ening had the Ilizarov only treatment strategies, Javid M applied for 2.5 months. In our et a1.(12) is the closest to our series as well as in others(12,15), strategy of treatment and that's all deformities were corrected why his series will be compared to acceptable results and no to ours. major complications were enIn our series, Ilizarov was countered. used in eleven limbs to correct Refracture complicated one deformities and limb length limb of type I1 after lengthening inequality simultaneously in (14 cm) and healed after casting nine limbs and to correct ankle in mild varus of 10 degrees. In deformity only in two limbs. In our series the residual deformithe series of Javid M et a1.(12), ties are varus of about 20 Ilizarov was used in nine limbs degrees together with flexion for lengthening and correction of 15 in one limb (type IA) of ankle deformities simulta- and we intend to correct them neously. The lengthening index in the next lengthening procein our series was 2.3 for bifocal dure. lengthening and 1.3 for monofocal which is comparable to Conclusion Treatment of tibia1 hemimeJavid M et a1.(12)series where it was 1.1 for monofocal length- lia, although lengthy and tiring ening and 1 for monofocal can yield good results and lengthening in Watts HG(15) acceptable function. Even if it series. The more rapid consoli- is worse than prosthesis (type dation in our series might be IA), it is much accepted by explained by the fact that parents refusing amputation. younger age group were length- Parent education prior to treatened in our series. Also the ment is mandatory and the average time for fixator re- option of amputation versus moval was 5.8 months in our trial of limb salvage should be series compared to 7.6 months given to th,e parents after exin Javid M et a1.(12)series and 8 plaining the duration and psymonths in Watts HG(15)series. chological impact of different This might be explained also by treatment options. The use of Table 5: Treatment strategies in different studies. - Knee IA Knee disarticulation Knee disarticulation IB Knee disarticulation Syme or Chopart amputation after tibio fibular sinostosis Syme or Chopart amputation after tibio fibular sinostosis Syme or Chopart amputation after tibiofibular sinostosis Astragelectomy and closure of diastasis and Syme amputation II Ill I Schoenecker PI('^) Federico F.et al@) Type IV Syme or Chopart amputation after tibiofibular sinostosis Syme or Chopart amputation after tibiofibular sinostosis I Astragelectomy and closure of dia( stasis and lengthening I 1 I I I I I Pan Arab J. Orth. Trauma Hassan El-Barbary, M D Ilizarov helped a lot and treatment strategies are changed after the use of such a tool. REFERENCES: 1. Herring JA: Limb deficiencies: Tachdjians Pediatric Orthopedics 3rd edition. W.B. Saunders Company, 1745-1810, 2002. 2. 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