PRIKAZI BOLESNIKA

BIBLID: 0370-8179, 135(2007) 5-6, p. 346-351 UDC: 616.7-089:615.8

TREATMENT POSIBILITIES IN

Dan NEMEŞ, Dan POENARU, Oana BERETEU, Roxana ONOFREI, Elena AMARICAI, Alina TOTOREAN 1”Victor Babeş” University of Medicine and Pharmacology, Timisoara, Romania; 2City Universitary and Emergency Hospital-Rehabilitation and Rheumatology Department, Timisoara, Romania; 3Timis County Universitary and Emergency Hospital-II Orthopaedic and Traumatology Department, Timisoara, Romania; 4Timis County Universitary and Emergency Hospital-II Orthopaedic and Traumatology Department, Rehabilitation Department, Timisoara, Romania

SUMMARY Introduction Ectromelia is a congenital abnormality characterised by limb growth disturbances (aplasia or hypoplasia) dur- ing the period from 4th to 8th gestation week. Case outline We present a case of hemimezomelic longitudinal ectromelia of the right upper limb associated with other skel- etal abnormalities, surgically treated. An important role in the management of this case is attributed to the complex rehabili- tation programme done before and after each surgical intervention. Conclusion The aim of the complex therapy is to diminish the permanent invalidity of these patients. Key words: ectromelia; surgical treatment; functional rehabilitation

INTRODUCTION months of pregnancy. At the age of two, the patient was admitted to the Children’s Clinic with bronchopneumo- Ectromelia is defined as a congenital development nia, anaemia, nutritional dystrophy and plurimalforma- anomaly characterised by limb growth disturbances tive syndrome, treated for a long period with intramus- (aplasia or hypoplasia) or by limb amputations due to cular antibiotics. amniotic liquid insufficiency [1]. This report describes Examination showed growth retardation (height – a case of ectromelia and tries to analyse the efficiency of 125 centimetres, weight – 32 kilogrammes); macrotia, a complex treatment. low set ears; triangular face (Figure 1); short right devi- ated cervical spine; an antero-lateral deformation of the thoracic cage; shortening of the right forearm with mus- CASE REPORT cular atrophy and an external deviation of this anatom- ical segment (Figure 2). There also could be seen a radi- A 19-year old white female from the rural environ- al deviated right hand, tetradactyly due to right thumb ment was referred to the Orthopaedic and Traumatology agenesis, of the second, third and fourth Clinic II of the Emergency County Hospital Timisoara for finger of the right hand (Figure 3) and left hypoplastic right stiffness and a congenital plurimalformative thumb (Figure 4). Examination also showed advanced syndrome. The patient is the first child of a young female left quadriceps hypotrophy (Figure 5). who developed multiple respiratory virosis in the first

1 2 3 4

FIGURE 1. Facial aspects of the patient. FIGURE 3. Tetradactyly due to right thumb agenesis; clinodactyly of SLIKA 1. Izraz lica bolesnika. the second, third and fourth finger of the right hand. FIGURE 2. Shortening of the right forearm, muscular atrophy, exter- SLIKA 3. Tetradaktilija usled nedostatka palca desne ruke; kli­ nal deviation. nodaktilija drugog, trećeg i četvrtog prsta. SLIKA 2. Skraćewe desne podlaktice, atrofija mišića, devi­ FIGURE 4. Left hypoplastic thumb. jacija upoqe. SLIKA 4. Hipoplazija palca leve ruke.

346 SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO

Radiology of the right forearm and right hand revealed The surgeons took several surgical steps in consider- the absence of the radius, the first metacarpal and the ation. Because orthostatism and walking were consid- thumb and the right club hand (Figure 6). X-ray of the left ered indispensable for self-care, the first surgical inter- hand revealed agenesis of the first metacarpal and thumb vention consisted of Judet method for knee mobilisa- hypoplasia (Figure 7). tion (Figure 9) [1]. On the spine and thoracic X-ray, there could be seen A 90º right knee flexion was established after this first thoraco-lumbar right-convex (Figure 8a, 8b). surgical step (Figure 10). Laboratory investigations and abdominal ultrasonog- The rehabilitation programme was started in the first raphy were normal. post-surgical days and consisted of hygienic orthopaed- According to the anamnestic, clinical and radiologi- ic measures for the right lower limb, electrical stimula- cal data, the following diagnoses were established: tion (Figure 11a-d), massage, kinetotherapy and occu- 1. Hemimezomelic longitudinal ectromelia of the right pational therapy [2, 3]. The main aim of this complex upper limb. programme was to re-educate static and gait and to 2. Right radial club hand. Right tetradactyly with clin- strengthen the hypotrophic muscles. odactyly of the second, third and fourth fingers. Left In the first postoperative week, the patient performed thumb hypoplasia. isometric exercises for quadriceps strengthening and 3. Iatrogenic post-injection right knee stiffness. also passive and active assisted range of motion of the 4. Thoracolumbar right-convex decompensated scolio- right lower limb (Figure 12a-c) [2, 3]. sis with secondary deformation of the thoracic cage. Using a helping frame, the patient was sustaining her 5. Growth and mental retardation. own weight partially on her and orthostatism was achieved, leaning on the healthy limb. 5 7 The rehabilitation programme was continued in kinetotherapy room. At this moment, the aim was to correct body posture, especially for scoliosis by per- forming adapted exercises [3] and to regain movement coordination and a correct way of walking, using Fren- kel exercises [4] (Figure 13a-b), walking with a helping device (Figure 14), walking using visual control for pos-

6

10

FIGURE 5. Left quadriceps hypotrophy. SLIKA 5. Hipotrofija levog kvadricepsa. FIGURE 6. Absence of the radius, the first metacarpal and the thumb and the right club hand. SLIKA 6. Izostanak radijusa, prve metakarpalne kosti i palca desne ruke sa tipičnim deformitetom šake. FIGURE 7. Agenesis of the first metacarpal and thumb hypoplasia (left hand). SLIKA 7. Agenezija prve metakarpalne kosti i hipoplazija pal­ ca leve ruke. FIGURE 10. 90º right knee flexion established after the first surgical step. 8a 8b SLIKA 10. Posle prve etape hirurškog lečewa u kolenu je posti­ gnuta fleksija od 90 stepeni.

11a 11c

9

FIGURE 8a-b. Thoraco-lumbar right-convex scoliosis. 11b 11d SLIKA 8a-b. Torakolumbalna dekstrokonveksna skolioza. FIGURE 9. Judet technique (intraoperative pictures). FIGURE 11a-d. Electrotherapy. SLIKA 9. Žideova tehnika (intraoperacioni nalaz). SLIKA 11a-d. Elektroterapija.

347 SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO

12a 12b 12c

FIGURE 12a-c. Isometric exercises for quadriceps strengthening; passive and active assisted range of motion of right lower limb. SLIKA 12a-c. Izometričke vežbe za jačawe kvadricepsa; pasivno i aktivno potpomognuto dobijen obim pokreta u kolenu. ture and walking education, climbing stairs with addition- al support and ergo cycle (Figure 15a-c) [3]. The preoperative rehabilitation programme was also performed as the second surgical step. The surgeons used the Sulamaa technique for radius total aplasia [5]. The preoperative rehabilitation programme consisted of anal- gesic electrotherapy, massage and kinetotherapy [2, 3]. After the first surgical step and the complex rehabili- tation programme, improvement of the right knee stiff- ness, orthostatism (Figure 16a-b) and walking without 13a 13b helping devices were achieved. Activities of daily living FIGURE 13a-b. Frenkel exercises. using both hands were also possible. SLIKA 13a-b. Frenkelove vežbe.

DISCUSSION

Ectromelia is defined as a congenital development anomaly characterised by limb growth disturbances (apla- sia or hypoplasia) or by limb amputations due to amniotic

14 15b liquid insufficiency [6]. The failure of normal limb devel- opment from 4th and to 8th gestation week is due to tera- togenic, mechanical or vascular factors or genetic muta- tions and chromosomal aberrations may be involved [6, 7]. The most frequent teratogenic factors are thalidomide [2-5], misoprostol (prostaglandin E1 analogue), alcohol consumption, chemotherapy and vasoconstrictor thera- 15а 15c py in the first gestation period [6, 7]. Prenatal diagnosis procedure chorionic villus sam- FIGURE 14. Walking with a helping device. pling before 10 weeks gestation, rupture of the amni- SLIKA 14. Hodawe sa pomagalom. on, strands of the collapsed amnion and adhesions are FIGURE 15a-b. Ergo cycle. some of the most frequent mechanical factors associated SLIKA 15a-b. Ergo-bicikl. with ectromelia [6, 7]. Although considered to be a spo- radic anomaly, there are some cases of genetically based ectromelia, due to recessive (, autosom- al recessive tetra-, X-linked tetra-amelia) or dom- inant mutations (Holt-Oram syndrome), or to chromo- somal aberrations such as trisomy 8 or deletion of region 7q22 found on the long of chromosome 7 [6, 7]. According to the type and grade of limb involvement, ectromelia can be classified in transverse forms such as total ectromelia, and , and in lon- gitudinal forms. A more severe degree is total ectromelia, also called amelia, characterised by the absence of one or more limbs, rarely unilateral [6, 7]. Phocomelia is a prox- imal type of ectromelia, in which the limbs are directly attached onto the body, due to the absence of belts or of

16а 16b the middle segments of the limbs. Usually it is a bilateral, symmetric malformation [6, 7]. Hemimelia can be either FIGURE 16a-b. Results after first surgical step and rehabilitation pro- a transverse or longitudinal anomaly, characterised by gramme. SLIKA 16a-b. Rezultati posle prve faze hirurškog lečewa i re­ total or partial absence of the acromelic segment [6, 7]. habilitacije.

348 SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO

In the longitudinal forms, hypoplasia, total or partial and to improve the quality of life of these patients. The aplasia of one of the middle bones (radius/ ulna, tibia/ fib- rehabilitation programme must be started in the neo-na- ula) can be seen. There are two main types of longitudi- tal period. The corrective surgical treatment is recom- nal defects – a preaxial type or an internal type in which mended to be done in the first 6-18 months of life. In the radius can be involved, the first metacarpal and the some cases, a prosthetic treatment may be useful. Occu- thumb, or the tibia can be involved, the first metatarsal pational therapy is an important component of the reha- and the hallux; and a postaxial type or external type in bilitation programme [10]. which the ulna can be involved, the fifth metacarpal and The main objective of the treatment is to reduce the the fifth finger, or the fibula, the fifth metatarsal and the permanent invalidity of these patients to the minimum. fifth toe [6, 8]. An important role in the management of this case is The limb defects seen in ectromelia can be an isolat- attributed to the complex rehabilitation programme ed anomaly, or they can be associated with other con- done before and after each surgical intervention [10] genital anomalies such as cleft lip and/or palate, facial anomalies, body wall defects, malformed head, anoma- lies of the neural tube and other organs. Kyphoscolio- REFFERENCES sis, fusions, growth deficiencies, mental retardation can also be seen [8]. 1. Judet R. Mobilization of the stiff knee. J Bone Joint Surg Br 1959; Prenatal diagnosis can be assessed using ultrasonog- 41:856-62. 2. Nemeş DIA, Moldovan C, Drăgoi M, Trăscău T, Gheorghe I. Ghid raphy [9]. Coexisting anomalies are more frequent in de electroterapie şi fototerapie. Timişoara: Editura Orizonturi association with lower limb defects [8]. A complete Universitare; 2000. p.23-30, 84-85. maternal anamnesis is necessary for possible maternal 3. Sbenghe T. Kinetoterapia profilactică, terapeutică şi de recuperare. exposure to teratogenic factors, for the evaluation of Bucuresti: Editura Medicală; 1999. 4. Frenkel K. Tabetic ataxia. London: Williams Heinemann Med. maternal health status during pregnancy and for identi- Books Ltd; 1896 (trans.) fication of family genetic anomalies [8]. The limb defect 5. Solonen KA , Sulamaa M. Nievergelt syndrome and its treatment. is rapidly seen in the new-born, but some radiological Ann Chir Gynaecol Fenn 1958; 47:142. investigations may be necessary to identify the exact 6. Henkel L, Willert HG. . A classification and a pattern of malformation in a group of congenital defects of the limbs. J type of anomaly [10]. Bone Join Surg 1969; 51B(3):399-414. Prognosis in these cases depends on the precocity of 7. McGuirk CK, Westgate MN, Holmes LB. Limb deficiencies in diagnosis and therapy, and also on the presence of oth- newborn infants. Pediatrics 2001; 108(4):64-70. er associated anomalies [10]. 8. Froster-Iskenius UG, Baird PA. Amelia: Incidence and associated The most important preventive measure is to avoid defects in a large population. Teratology 1990; 41:23-31. 9. Cullen MT, Green J, Whetham J, et al. Transvaginal ultrasono- teratogenic factors throughout pregnancy. The thera- graphic detection of congenital anomalies in the first trimester. peutic decision is made based on gestational age at the Am J Obstet Gynecol 1990; 163:466. time of diagnosis and on the gravity of the malforma- 10. Watson S. The principles of management of congenital anomalies tion. In severe cases, such as amelia or ectromelia com- of the upper limb. Arch Dis Child 2000; 83:10-7. bined with multiple other defects, pregnancy termina- tion is the first treatment option. This can be accom- Ioan Dan Aurelian NEMES plished either by intra-amniotic injection of prostaglan- Ulpia Traiana Street No 105, 300771 Timisoara din F2 or by caesarean section [10]. Romania The goal of treatment in children with ectromelia is to Phone: 0040 744 576664 achieve and maintain a functional and cosmetic status, E-mail: [email protected]

MOGUĆNOSTI SLOŽENOG LEČEWA EKTROMELIJE

Dan Ioan Aurelian NEMES1,3, Dan V. POENARU2,4, Oana BERETEU1,3, Roxana Ramona ONOFREI1,3, Elena Constanta AMARICAI1,4, Alina TOTOREAN1,4 1Univerzitet za medicinu i farmaciju „Viktor Babeš”, Temišvar, Rumunija; 2Odsek rehabilitacije i reumatologije, Klinička okružna urgentna bolnica, Temišvar, Rumunija; 3Druga klinika za ortopediju i traumatologiju, Klinička okružna urgentna bolnica, Temišvar, Rumunija; 4Odeqewe rehabilitacije, Druga klinika za ortopediju i traumatologiju, Klinička okružna urgentna bolnica, Temišvar, Rumunija

KRATAK SADRŽAJ Uvod Ek­tro­me­li­ja je kon­ge­ni­tal­ni ne­do­sta­tak jed­nog ili vi­še eks­tre­mi­te­ta ili wi­ho­vih de­lo­va, a od­li­ku­je se za­u­sta­vqa­ wem raz­vo­ja udo­va (apla­zi­ja ili hi­po­pla­zi­ja) iz­me­đu če­tvr­te i osme ne­de­qe unu­tar­ma­te­rič­nog ži­vo­ta. P r i ­k a z b o l­ e s­ n i ­k a Pri­ka­za­na je bo­le­sni­ca sa he­mi­me­zo­me­lič­nom uz­du­žnom spoqnom ek­tro­me­li­jom de­snog gor­weg uda, grud­nog ko­ša i dru­gim ano­ma­li­ja­ma ko­sti­ju, ko­ja je hi­rur­ški le­če­na. Funk­ci­o­nal­na fi­zi­kal­na te­ra­pi­ja igra ve­o­ma va­žnu ulo­gu u odr­ža­va­wu i po­boq­ša­wu po­kre­tqi­vo­sti zglo­bo­va. Vr­ši se pre ope­ra­ci­je i ra­no po­sle we. Z a k­ q u č­ a k Ciq slo­že­nog le­če­wa je sma­we­we stal­nog in­va­li­di­te­ta ovih oso­ba. Kquč­ne re­či: ek­tro­me­li­ja; ra­no hi­rur­ško le­če­we; funk­ci­o­nal­na fi­zi­kal­na te­ra­pi­ja

349 SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO

UVOD tra­lo da sta­ja­we i ho­da­we predsta­ ­vqa­ju pri­o­ri­tet. Po­ sle ope­ra­ci­je do­bi­je­na je fleksi­ ­ja de­snog ko­le­na od 90° Ek­tro­me­li­ja, kon­ge­ni­tal­ni ne­do­sta­tak jed­nog ili vi­ (Slika­ 10). Ubrzo­ posle­ opera­ ci­ ­je prime­ we­ ni­ su tretman­ še eks­tremi­ te­ ­ta ili wiho­ vih­ de­lova,­ od­liku­ ­je se za­u­sta­ le­ko­vi­ma i slo­že­ni pro­gram fi­zi­kal­ne te­ra­pi­je, ko­ji se vqa­wem raz­vo­ja udo­va ili am­pu­ta­ci­ja­ma ko­je su iza­zva­ sa­sto­jao od elek­tro­te­ra­pi­je, ma­sa­že, ki­ne­zi­te­ra­pi­je, hi­ ne am­ni­on­skim iz­ra­sli­na­ma usled ne­do­voq­ne količine dro­ki­ne­zi­te­ra­pi­je i rad­ne te­ra­pi­je. plodove vode [1]. U radu­ je opi­sa­na ana­li­za efi­ka­sno­sti Program­ elek­trote­ ra­ pi­ ­je (Sli­ka 11a-d) se sa­stojao­ u slo­že­nog le­če­wa bo­le­snice­ s ek­tro­me­li­jom. pri­meni­ stru­je ni­ske fre­kven­ci­je (pra­vou­ ga­ o­ ni­ tok) i sred­we fre­kven­ci­je (Kro­co­vi to­ko­vi) na ni­vou hi­po­tro­ fič­nih gru­pa mi­ši­ća bu­ti­ne – qua­dri­ceps fe­mo­ris, tri­ceps PRIKAZ BOLESNIKA su­rae, sa mo­to­rič­ki sti­mu­la­tiv­nom ulo­gom. Ko­ri­šćen je pul­za­til­ni ul­tra­zvuk zbog svo­je anal­ge­tič­ke ulo­ge i spo­ Bo­le­sni­ca uz­ra­sta od 19 godi­ ­na, kav­ka­ske ra­se, iz ru­ sobno­ sti­ opušta­ wa­ miši­ ­ća. Prime­ we­ na­ je ručna,­ vla­ ral­ne sre­di­ne, ja­vqa se na Dru­gu kli­ni­ku za or­to­pe­di­ju žna ma­sa­ža za opu­šta­we mi­ši­ća, kao i va­sku­lar­na ma­ i tra­u­ma­to­lo­gi­ju Kli­nič­ke okru­žne urgent­ ­ne bol­ni­ce u sa­ža uda i de­lo­va uda, ko­ji su pretho­ ­di­li op­štoj ma­sa­ži Te­mi­šva­ru zbog uko­če­no­sti zglo­ba de­snog ko­le­na i plu­ [2, 3]. Sledio­ je slo­ženi­ pro­gram ki­ne­zi­te­ra­pi­je, či­ji je ri­mal­for­ma­tiv­nog kon­ge­ni­tal­nog sin­dro­ma. Pr­vo je de­te ciq opora­ vak­ sta­tike­ i hoda­ wa,­ eventu­ ­alno­ s orto­ ped­ ­ že­ne koja­ je u pr­vom tro­me­seč­ju trud­no­će ima­la ne­ko­li­ skim po­moć­nim sred­stvi­ma, kao i toni­ ­fi­ka­ci­ja mi­ši­ća ko vi­ro­za. Ka­da je ima­la dve go­di­ne, sme­šte­na je na Deč­ sa­vi­ja­ča i opru­ža­ča po­mo­ću izo­me­trij­skih kon­trak­ci­ja je ode­qewe­ zbog me­šo­vi­te bron­hop­ne­u­mo­ni­je, ko­ja je du­ i ak­tiv­nih po­kre­ta sa na­pred­nim ot­po­rom. Sa fi­zi­kal­ go le­če­na injek­ci­ja­ma an­ti­bi­o­ti­ka, što se sma­tra po­čet­ nom te­ra­pi­jom se po­če­lo pr­ve ne­de­qe po­sle ope­ra­ci­je u nom tač­kom uko­če­no­sti ko­le­na. Di­jag­no­sti­ko­va­ni su i: bol­nič­koj so­bi. Bo­le­sni­ca je iz­vo­di­la izo­me­trij­ske kon­ pre­lom na ni­vou do­weg de­snog uda, ko­ji je le­čen or­to­ped­ trak­ci­je mi­ši­ća quadri­ ceps­ femo­ ris­ i pa­siv­no-ak­tiv­ne po­ skom imobi­ ­li­za­ci­jom gipsa­ ­nim za­vo­jem, sa poboq­ ­ša­wem kre­te flek­si­je pot­ko­le­ni­ce (Sli­ka 12a-c) [2, 3]. Ko­ri­ste­ po­sle le­če­wa, za­tim ane­mi­ja, dis­tro­fi­ja i plu­ri­mal­for­ ći vi­so­ku ho­da­li­cu, bo­le­sni­ca je ve­žba­la usta­ja­we na no­ ma­tiv­ni sin­drom. ge po­mo­ću do­weg zdra­vog uda, pri­dr­ža­va­ju­ći te­ži­nu te­ To­kom klinič­ kog­ ispi­ ti­ va­ ­wa utvrđe­ ­ni su: re­tarda­ ci­ ­ la po­mo­ću gor­wih udo­va. Le­če­we je na­sta­vqe­no u sa­li za ja ra­sta i te­ži­ne (vi­si­na 125 cm, te­ži­na 32 kg), ve­li­ke ni­ ki­ne­zi­te­ra­pi­ju, gde je bo­le­sni­ca ve­žba­wem po­ku­ša­la da že po­sta­vqe­ne uši, tro­u­gla­sti fa­ci­jes (Sli­ka 1), kra­ći is­pra­vi po­lo­žaj te­la, za­do­bi­je ko­or­di­na­ci­ju po­kre­ta i cer­vik­sni stub nag­nut ude­sno, kao i pred­wa spoq­na de­ po­nov­no us­po­sta­vi ho­da­we. Radi­ ­la je Frenke­ ­lo­ve (Fren­ for­ma­ci­ja grud­nog ko­ša. Pri­me­će­no je skra­će­we de­sne kel) [4] vežbe­ (Sli­ka 13a-b) i hoda­ ­la po­mo­ću ho­da­li­ce, sa podlak­ ti­ ce­ sa opštom­ atrofi­ ­jom ovog ana­tomskog­ seg­men­ bla­gim pri­dr­ža­va­wem na ope­ri­sa­nom udu (Sli­ka 14). U na­ ta i spoq­na de­vi­ja­ci­ja u od­no­su na uz­du­žnu osu ru­ke (Sli­ stav­ku le­če­wa ho­da­we je oba­vqa­no van sa­le, na hod­ni­ku, ka 2). Na de­snoj ru­ci uoče­ne su: ra­di­jal­na de­vi­ja­ci­ja, te­ uz vi­zu­el­nu kon­tro­lu popra­ ­vqa­wa po­lo­ža­ja te­la i ko­ra­ tra­dak­ti­li­ja sa age­ne­zi­jom pal­ca i kli­no­dak­ti­li­ja dru­ ča­wa. Po­ste­pe­no je ve­žba­la ho­da­we uz ste­pe­ni­ce po­mo­ gog, tre­ćeg i če­tvr­tog pr­sta (Sli­ka 3). Na le­voj ru­ci za­be­ ću šta­ka za pri­dr­ža­va­we (Sli­ka 15a-c) [3]. le­že­na je hi­po­pla­zi­ja pal­ca (Sli­ka 4). Na ni­vou do­weg de­ Isto­vre­me­no je vr­še­na pri­pre­ma dru­ge eta­pe hi­rur­ snog uda utvrđe­ ­ni su hipo­ ­tro­fi­ja kva­dri­cep­sa i ukoče­ ­ škog le­če­wa Su­la­mo­vom (Su­la­maa) [5] tehni­ ­kom za total­ ­ nost na ni­vou de­snog ko­le­na u eks­ten­zi­ji (Sli­ka 5). nu apla­zi­ju ra­di­ju­sa, ko­ja se sa­sto­ji u transpo­ ­zi­ci­ji ul­ Rend­gen­ski sni­mak de­sne ruke­ poka­ ­zao je potpu­ ­ni iz­ ne. Pre­o­pe­ra­ci­o­na pri­pre­ma za dru­gu eta­pu sa­sto­ja­la se o­sta­nak ra­di­jal­nog lu­ka (pa­lac, pr­va me­ta­kar­pal­na kost, u prime­ ni­ elektro­ te­ ra­ pi­ ­je i pulza­ ­tilnog­ ultra­ zvu­ ka­ s an­ tra­pez, ska­foid i ra­di­jus) i ra­di­jal­nu kri­vu ru­ku (Sli­ka tal­gič­nom ulo­gom, ma­sa­že i ki­ne­zi­te­ra­pi­je [2, 3]. Dru­gi 6). Ra­di­o­gram le­ve ru­ke je uka­zao na age­ne­zi­ju pr­ve me­ta­ deo fi­zi­kal­ne te­ra­pi­je pred­sta­vqa­lo je ko­ri­šće­we či­ kar­pal­ne ko­sti, tra­pe­za i ska­fo­i­da i hipo­ ­pla­zi­ju pal­ca ta­vog te­la za dnev­ne ak­tiv­no­sti, što pretpo­ ­sta­vqa i ko­ (Sli­ka 7). Ra­di­o­graf­sko is­pi­ti­va­we grud­nog ko­ša i kič­ ri­šće­we oba gor­wa uda. me (Sli­ka 8a, b) je uka­za­lo na dek­stro­kon­vek­snu grud­no- Po­sle pr­ve eta­pe hi­rur­škog le­če­wa i pri­me­we­nog sla­bin­sku sko­li­o­zu. Bi­o­he­mij­ski i hema­ ­to­lo­ški na­la­zi slože­ nog­ progra­ ma­ funkci­ o­ nal­ ne­ fizi­ kal­ ne­ tera­ pi­ ­je, su bi­li u grani­ ­ca­ma nor­mal­nih vred­no­sti; ni ul­tra­zvuč­ kod bo­le­sni­ce je došlo­ do su­zbi­ja­wa uko­če­no­sti de­snog ni na­laz ab­do­me­na ni­je po­ka­zao pa­to­lo­ške pro­me­ne. Na ko­le­na, do po­boq­ša­wa sta­ja­wa (Sli­ka 16a-b) i ho­da­wa bez osno­vu anam­ne­stič­kih, kli­nič­kih i pa­ra­kli­nič­kih po­da­ oslonca,­ kao i vra­ća­wa osnovnim­ svako­ ­dnevnim­ aktiv­ ­no­ ta­ka posta­ ­vqene­ su slede­ ­će di­jag­no­ze: sti­ma, ukqu­ču­ju­ći i ko­ri­šće­we gor­wih udo­va za­jed­no. 1 . H e ­m i ­m e ­z o ­m e ­l i j ­s k a u z ­d u ­ž n a s p o q ­n a e k ­t r o ­m e ­l i ­j a d e ­ snog grud­nog uda; 2 . D e ­s n a r u ­k a k r i ­v a r a ­d i ­j a l ­n o . T e ­t r a ­d a k ­t i ­l i ­j a s a k l i ­n o ­ DISKUSIJA dak­ti­li­jom dru­gog, tre­ćeg i če­tvr­tog pr­sta. Hi­po­pla­ zi­ja le­vog pal­ca; Ek­tro­me­li­ja je kon­ge­ni­tal­na ano­ma­li­ja ne­do­stat­ka jed­ 3. Ja­tro­ge­na po­stinjek­cij­ska uko­če­nost de­snog ko­le­na; nog ili vi­še eks­tre­mi­te­ta ili wi­ho­vih de­lo­va, a od­li­ku­ 4 . D e k ­s t r o ­k o n ­v e k ­s n a d e ­k o m ­p e n ­z o ­v a ­n a g r u d ­n o - s l a ­b i n ­s k a je se za­u­stavqa­ wem­ razvo­ ja­ udova­ ili ampu­ ­taci­ ­jama­ usled sko­li­o­za sa spo­red­nom de­for­ma­ci­jom grud­nog ko­ša; am­ni­on­skih iz­ra­sli­na zbog ne­do­voq­ne ko­li­či­ne plodo­ ­ 5. Men­tal­na i re­tar­da­ci­ja ra­sta i te­ži­ne. ve vo­de [6]. Za­u­sta­vqa­we u raz­li­či­tim stadi­ ­ju­mi­ma raz­ Po­sle po­sta­vqa­wa di­jag­no­za, od­re­đe­ne su eta­pe hirur­ ­ vo­ja udo­va u pr­vim ne­de­qa­ma (4-8 ne­de­qa) unu­tar­ma­te­ škog le­če­wa. Kao pr­vo, iz­vr­še­na je mo­bi­li­za­ci­ja de­snog rič­nog živo­ ta­ rezul­ ­tat je de­lova­ wa­ razli­ ­čitih­ fakto­ ­ kole­ na­ Ju­de­tovim­ (Ju­det) [1] postup­ kom­ (Slika­ 9) jer se sma­ ra (te­ra­to­ge­nih, me­ha­nič­kih, va­sku­lar­nih) ili ge­net­skih

350 SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO mu­ta­ci­ja i hro­mo­zom­skih abera­ ­ci­ja, koji­ do­vo­de do apla­ ta­vu ana­to­mi­ju fe­tu­sa [8]. Za po­sta­vqa­we di­jag­no­ze ko­ri­ zi­je, od­no­sno hipo­ ­pla­zi­je udo­va u pot­pu­no­sti ili po­ne­ sna je i de­taq­na anam­ne­za u ve­zi s iz­lo­že­no­šću maj­ke ra­ kih kost­nih seg­me­na­ta [6, 7]. Naj­če­šći te­ra­to­ge­ni fak­to­ znim tera­ ­toge­ nim­ fakto­ ri­ ma,­ naro­ či­ to­ u prvom­ trome­ ­ ri su: ta­li­do­mid, mi­zo­pro­stol (ana­log E1 pro­sta­glan­di­ seč­ju trud­no­će, ali i u ve­zi sa zdrav­stve­nim sta­wem maj­ na) [2] i al­ko­hol kon­zu­mi­ran u pr­vom tro­me­seč­ju trud­no­ ke i genet­ skim­ pore­ ­me­ća­ji­ma u poro­ ­di­ci [8]. Po­sle po­ će, ci­to­sta­ti­ci i va­zo­kon­strik­to­ri [6, 7]. Bi­op­si­ja ho­ri­ rođa­ ­ja nedo­ sta­ ­tak udova­ se može­ prime­ ­titi­ jedno­ stav­ ­ on­skih re­si­ca u pr­vih de­set ne­de­qa trud­no­će i ki­da­we nim pre­gle­dom no­voro­ đen­ ­če­ta, ali su ra­dio­ lo­ ški,­ hi­ amni­ o­ ­na predsta­ vqa­ ­ju me­hanič­ ke­ raz­loge­ zbog kojih­ mo­že rur­ški i ob­duk­ci­o­ni na­la­zi neo­p­hod­ni za utvrđi­ ­va­we do­ći do ek­tro­me­li­je [6, 7]. U ge­net­ske po­re­me­ća­je ko­ji mo­ tač­nog ti­pa ano­ma­li­je [10]. gu do­ve­sti do ek­tro­me­li­je ubra­ja­ju se: re­ce­siv­ne mu­ta­ci­ Ra­zni ob­li­ci ek­tro­me­li­je se mo­ra­ju raz­li­ko­va­ti od je ge­na (Ro­bert­sov sin­drom, re­ce­siv­na auto­zom­na te­tra­a­ dru­gih po­re­me­ća­ja u ko­ji­ma se ta­ko­đe di­jag­no­sti­ku­je skra­ me­li­ja, te­tra­a­me­li­ja ve­za­na za X hro­mo­zom), domi­ ­nant­ne će­we udova­ ali sa posto­ ja­ ­wem svih kostnih­ seg­me­na­ta, kao mu­ta­ci­je ge­na (Holt-Ora­mov sin­drom), hro­mo­zom­ske abe­ i od ahon­dro­pla­zi­je i oste­o­ge­ne­sis im­per­fec­ta [8]. Ek­trome­ ­ ra­ci­je, kao što su tri­zo­mi­ja 8 i izo­ ­sta­nak seg­men­ta 7q22 li­ja se mo­že ja­vi­ti u okvi­ru dru­gih slo­že­nih plu­ri­mal­ sa dugog­ de­la hro­mo­zo­ma 7 [6, 7]. for­ma­tiv­nih po­reme­ ća­ ­ja, kao što su: Fan­koni­ ­jeva­ (Fan­ Po­sto­ji ne­ko­li­ko vr­sta ek­tro­me­li­je, u za­vi­sno­sti od co­ni) apla­stič­na kon­ge­ni­tal­na ane­mi­ja, trombocitopeni‑ ste­pe­na i ti­pa ošte­će­wa uda. U gru­pu s po­preč­nim ošte­ ja s obo­stra­nim iz­o­stan­kom ra­di­ju­sa i po­re­me­ća­ji sa ge­ će­wi­ma ubra­ja­ju se: to­tal­na ek­tro­me­li­ja, fo­ko­me­li­ja i he­ net­skim pre­no­som (Holt-Ora­mov sin­drom, Ro­bert­sov sin­ mi­me­li­ja. Naj­te­ži ob­lik pred­sta­vqa to­tal­na ek­tro­me­li­ drom, auto­zom­no re­ce­siv­na ili te­tra­a­me­li­ja ve­za­na za X ja ili ame­li­ja, ko­ju od­li­ku­je iz­o­sta­nak jed­nog ili ne­ko­ hro­mo­zom). li­ko udo­va [6, 7], a ko­ja je ret­ko jed­no­stra­na. Po­veza­ ­na je Prog­no­za ovog kon­ge­ni­tal­nog po­re­me­ća­ja za­vi­si od ra­ sa hi­po­pla­zi­jom ska­pu­lar­nog obru­ča, od­no­sno sa de­for­ nog po­sta­vqa­wa di­jag­no­ze i po­čet­ka le­če­wa, kao i od po­ ma­ci­jom kar­li­ce [6, 7]. Pre­va­len­ci­ja ame­li­je je 0,04-0,15 ve­za­no­sti sa drugim­ ano­ma­li­ja­ma i konge­ ­ni­tal­nim mal­ na 10.000 poro­ ­đa­ja. Foko­ ­me­li­ja predsta­ vqa­ ob­lik ektro­ ­ for­ma­ci­ja­ma [10]. U pre­ven­ci­ji mal­for­ma­ci­ja sma­tra se me­li­je ko­ji obe­le­ža­va iz­o­sta­nak ri­zo­me­lij­skog, od­no­sno da je od izu­ ­zet­ne va­žno­sti izbe­ ­ga­va­we iz­la­ga­wa te­ra­to­ge­ sred­weg seg­men­ta. Ru­ka, od­no­sno no­ga mo­gu bi­ti nor­mal­no nim fak­to­ri­ma u trud­no­ći. Tera­ ­pij­sko po­na­ša­we za­vi­si ili ne­nor­mal­no raz­vi­je­ne [6, 7]. Malfor­ ­ma­ci­ja je uglav­ od odma­ ­klo­sti trud­no­će u trenut­ ­ku po­sta­vqa­wa di­jag­no­ nom obo­stra­na i si­me­trič­na. He­mi­me­li­ja se od­li­ku­je pot­ ze i te­ži­ne ano­ma­li­je. Ako su u pi­ta­wu te­ške ano­ma­li­je, pu­nim ili de­li­mič­nim iz­o­stan­kom akro­me­lij­skog seg­ pre­kid trud­no­će je te­ra­pij­ski iz­bor broj je­dan [10]. men­ta, a mo­že bi­ti po­preč­na ili uz­du­žna ano­ma­li­ja [6, Ka­da je reč o de­ci s akro­me­li­jom, ciq le­če­wa je sma­we­ 7]. U uz­du­žne ob­like­ ek­tro­me­li­je svr­sta­va­ju se pot­puna­ we stal­nog in­va­li­di­te­ta i do­bi­ja­we i odr­ža­va­we funk­ ili de­li­mič­na apla­zi­ja i hipo­ ­pla­zi­ja sred­we ko­sti jed­ ci­o­nal­no­sti udo­va, ka­ko bi se poboq­ ­šao kva­li­tet ži­vo­ nog od udo­va – ra­di­jus ili ul­na, ti­bi­ja ili fi­bu­la [1, 7, 8]. ta. Funk­ci­o­nal­na fi­zi­kal­na te­ra­pi­ja vr­ši se još u neo­na­ U za­vi­sno­sti od ošte­će­nog seg­men­ta, uz­du­žne ano­ma­li­je tal­nom pe­ri­o­du, ne pred­sta­vqa in­va­zi­van tret­man i mo­že mo­gu biti­ spoqwe­ – sa po­re­me­ća­jem ul­nar­nog lu­ka, od­no­ se oba­vqa­ti za­jed­no sa le­če­wem po­ve­za­nih po­re­me­ća­ja. Ko­ sno lu­ka fi­bu­le, i unu­tra­šwe – sa po­re­me­ća­jem ra­di­jal­ rektiv­ ne­ hirur­ ške­ inter­ ven­ ci­ ­je mogu­ se obavi­ ti­ već u pr­ nog lu­ka, od­no­sno lu­ka ti­bi­je [6, 8]. Ano­ma­li­je udo­va ko­je vim me­se­ci­ma po ro­đe­wu, me­đu­tim, pre­po­ru­ču­je se da to bu­ se ja­vqa­ju u ek­tro­me­li­ji mo­gu bi­ti izo­lo­va­ne ili pra­će­ de po­sle 6-18 me­se­ci. Za te­že ob­li­ke ek­tro­me­li­je po­treb­ ne dru­gim anoma­ ­li­ja­ma i mal­for­ma­ci­ja­ma – pa­la­toschi­sis, no je ne­ko­li­ko eta­pa hi­rur­škog le­če­wa. Fi­zi­kal­nu te­ra­ malfor­ ma­ ci­ ­je re­bra, mal­forma­ ci­ ­je lo­bawe,­ ano­ma­li­je pi­ju tre­ba­lo bi po­če­ti ubr­zo po­sle ope­ra­ci­je. Rad­na te­ra­ ne­u­ronske­ ce­vi, bu­brega­ ili di­jafrag­ ­me, ki­fosko­ li­ o­ ­za pi­ja ta­ko­đe je ukqu­če­na u slo­že­nu she­mu le­če­wa [10]. i fu­zi­ja re­ba­ra [8]. Kraj­wi ciq le­če­wa bo­le­sni­ka s ektro­ ­me­li­jom je sma­ Prena­ ­talna­ di­jagno­ za­ ek­trome­ ­li­je je mo­guća,­ a stan­ wewe­ stalnog­ inva­ ­lidi­ te­ ­ta. Fizi­ kal­ na­ tera­ pi­ ­ja igra dard­ni me­tod je pre­gled ul­tra­zvu­kom, gde se mo­že uoči­ va­žnu ulo­gu u odr­ža­va­wu i po­boq­ša­wu po­kre­tqi­vo­sti ti ne­do­sta­tak ili ne­do­voq­na razvi­ ­je­nost de­lo­va udo­va zglo­bo­va, a vr­ši se pre ope­ra­ci­je i ubr­zo po okonča­ ­wu [9]. Ako se ta­kva ano­ma­li­ja pri­me­ti, tre­ba pro­ce­ni­ti či­ hi­rur­škog le­če­wa [10].

* Rukopis je dostavqen Uredništvu 26. 1. 2007. godine.

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