Knee Surg Sports Traumatol Arthrosc (2012) 20:1622–1625 DOI 10.1007/s00167-011-1816-2
KNEE
Congenital absence of the cruciate ligaments Massimo Berruto • Luca Gala • Eva Usellini Dario Duci • Bruno Marelli
•
Received: 22 June 2011 / Accepted: 29 November 2011 / Published online: 14 December 2011 Ó Springer-Verlag 2011
Abstract Congenital absence of the cruciate ligaments is a rare condition with a prevalence of 0.017 per 1,000 live births. The most important finding of this study was the presence of a posterior menisco-femoral ligament of Wrisberg with cruciate ligaments agenesia and the hypothesis advanced about the development of the ligamentous structures of the knee. Reviewing the literature, we assume that the congenital anomaly that causes the anatomical defect expresses itself around the 7th to 8th post-ovulatory week. Literature teaches us that the need for a knee replacement seems to be inevitable before or after and during the life of a patient without cruciate ligaments.
both bone and soft tissue in the lower limb [3, 5, 6, 17, 19, 23, 30]. Aplasia or hypoplasia of the ACL can be associated with hypoplasia or the total absence of the posterior cruciate ligament (PCL), and the involvement of the PCL alone is not described in literature. The classification of this pathology includes three patterns and it is characterised on the basis of the MRI scans. Type I is defined by hypoplasia or aplasia of the ACL with a normal PCL; type II, by aplasia of the ACL in combination with hypoplasia of the PCL; and type III, by aplasia of both cruciate ligaments [20].
Keywords Knee ACL PCL Congenital Absence Menisco-femoral ligaments
Case report
Introduction Congenital absence of the cruciate ligaments is a rare condition, already described in the literature, usually associated with severe malformations or congenital dislocation of the knee with a prevalence of 0.017 per 1,000 live births [7, 14, 15, 20, 31]. The absence of the only anterior cruciate ligament (ACL) is more common than generally suspected and is often found in connection with other abnormalities of
M. Berruto L. Gala E. Usellini D. Duci B. Marelli G. Pini Orthopaedic Institute, Milan, Italy M. Berruto (&) Via Turati 32, 20121 Milan, Italy e-mail:
[email protected]
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A 15-year-old girl came to Gaetano Pini Orthopaedic Institute presenting with pain in the medial part of the right knee for about 4 months without trauma. Physical examination revealed a knee without effusion along with pain adjacent to medial tibial plateau caused by digital pressure, a marked sagittal laxity manifested by both a positive anterior and posterior drawer and a grade 3 Lachman test. Also, present was: increased external rotation, a positive dial test at 30° and 90° of flexion, a grade 3 pivot shift as well as a positive reverse pivot shift. There was no lateral or medial instability at full extension. Range of motion was normal. Knee radiographs showed: a lightly varus knee with hypoplastic tibial spines, a narrowed femoral notch and a flattened tibial eminence associated with a femoral dysplasia. The MRI displayed a hypoplasia of the tibial spines. There was a narrowing and deformation of the intercondylar notch. Even the femoral trochlea appeared to be
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flattened and the patella showed hypoplasia of the medial part. In addition, there was a signal alteration in the posterior horn of the medial meniscus. Within the intercondylar notch, thickened redundant synovial tissue was present containing a very irregular ligamentous structure with an orientation consistent with some type of PCL. There was no identifiable structure with the recognisable features of the ACL (Fig. 1). The patient underwent arthroscopic surgery for treatment of the meniscal lesion. Arthroscopic views showed that the notch was small and occupied by a synovial tissue. The anatomical areas of insertion of the ACL were completely empty. In addition, there was a rudimentary menisco-femoral ligament accompanying one of the bundles from the posterior horn of the lateral meniscus to the medial area of the
Fig. 1 MRI image showing that there is no structure with the features of the ACL and the outline of the PCL
Fig. 2 Arthroscopic image of the menisco-femoral ligament
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intercondylar notch, in the insertion area of the PCL. Furthermore, there was a ligamentous structure similar to the PCL that was hypoplastic and thin. Its insertion on the retrospinal surface of the tibia was thin and not functional, similar to a PCL retaining its anatomical outline because of a maturation process interrupted in the early stages (Fig. 2).
Discussion The most important finding of this study was the presence of a posterior menisco-femoral ligament of Wrisberg with cruciate ligaments agenesia and the hypothesis advanced about the development of the ligamentous structures of the knee [22, 27]. Some authors first identified the menisco-femoral ligament of Wrisberg in 10-week-old foetuses; however, other authors failed to find evidence of this ligament even after 12.5 weeks of development [13, 25, 26]. In literature is not reported any relationship between the development of the cruciate and the menisco-femoral ligaments but it has to be considered the chance that meniscofemoral ligaments are, on the one hand, less examined compared to the cruciate ligaments and, on the other hand, smaller in size so that their detection in human staged embryos may be difficult before 10–12.5 weeks of development, while the cruciates may be distinguished from the seventh [13, 25, 26]. Therefore, while the menisco-femoral ligaments role may be important, as many authors claim, it may be that in an anatomically altered knee, they do not influence ligamentous stability, as in our patient [12]. Besides this case brought us to speculate about the developmental process of the ligamentous structures of the knee. It has been documented that during the 7th to the 10th week of intra-uterine life, the intra-articular structures of the knee are formed by direct condensation and differentiation of the blastemal tissue of the interchondral disc [32]. The cruciate ligaments of the knee joint form as derivatives of the articular interzone and come to lie outside the joint secondarily, possibly as a result of the invagination of the posterior margin of the joint capsule [4, 9, 11, 18, 21, 24]. On the other hand, other authors believe that the cruciate ligaments form from extra-articular tissue and get pulled inside the joint secondarily [1, 29]. The organisation of the cruciate ligaments begins in O’Rahilly stage 21, and the posterior ligaments being the first of the two to become distinguishable. However, Gardner and O’Rahilly found in at least two of the nine stage-20 specimens they examined, both cruciate ligaments were present [9, 11].
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Ca`ceres and Caja [2] established that the condensation that eventually gives rise to the PCL first appears in 28-mm human embryos, whereas the first sign of its anterior counterpart became visible at the start of the foetal period. Reviewing the literature, we assume that the congenital anomaly that causes the anatomical defect expresses itself around the 7th to 8th post-ovulatory week, and based on the timing, the result is the classification described in the introduction. The PCL seems to be always the first to differentiate, considering the fact that some authors found an early identification of the PCL in human staged embryos. In the cases described in literature, agenesia or hypoplasia of the PCL alone was not reported, but only in association with ACL agenesia. As described in literature, we also noted in our patient a hypoplasia of the tibial spines [3, 14, 15, 30]. The intercondylar notch was completely altered, narrowed and filled up by abundant fibrous tissue [10, 32]. Some authors describe that in the embryo, the tibial and femoral condyles develop together with the cruciate ligaments around the 7th post-ovulatory week [9]. The main purpose of the intercondylar notch seems to be to contain the cruciate ligaments therefore if the ligaments are missing the notch fails to develop. That could be partially explained by the hypothesis put forward by Giorgi [10], which suggests that the development of the tibial spines stops if there is no traction from the ACL. Other authors believe that missing spines are separate congenital dysplastic developments and not a reaction to the dysplasia of the cruciate ligaments because, when the cruciate ligaments are completely absent and there is subsequent formation of a ball-and-socket knee joint, the shallow notch is completely overgrown by hyaline cartilage [20]. Observing the shape of the patient’s notch in this case lends more weight towards the first hypothesis. The notch, filled up by abundant fibrous tissue and not functional, seems to have failed, because of the cruciate absence, its natural anatomical reshaping and adaptation processes. The therapeutic approach in the case of cruciate ligament agenesis is controversial, and some authors think that there is no surgical indication for several reasons: congenital absence of the cruciate ligaments is usually well tolerated, reconstructing them can involve difficult technical problems, and there is often a high percentage of failure or poor results. In addition, the articular surface is abnormal and it does not seem reasonable to break the compensation that has existed in a congenitally pathologic knee [14–16]. Other authors report favourable results with cruciate ligament reconstruction so far, but the long-term outcome of these knees is unknown [8, 28].
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Literature teaches us that the need for a knee replacement seems to be inevitable before or after and during the life of a patient without cruciate ligaments [16].
References 1. Arey LB (1961) Developmental anatomy. W.B. Saunders, London 2. Ca`ceres E, Caja VL (1980) Estudio de las cavidades intraarticulares de la rodilla en los perı`odos embrionario y fetal humano. Ann Desarr 56:79–85 3. Dejour H, Neyret P, Eberhard P, Walch G (1990) Absence conge´nitale bilate´rale du ligament Croise´ ante´rieur et du me´nisque interne du genou. A propos d’un cas. Rev Chir Orthop Reparatrice Appar Mot 76:329–332 4. Dubinkin G, Motnenko A (1931) Uber die Entwicklung der Menisken des Kniegelensk. Arch Klin Chir 8:165–178 5. Ergun S, Karahan M, Akgun U, Kocaoglu B (2008) A case of multiple congenital anomalies including agenesis of the anterior cruciate ligament. Acta Orthop Traumatol Turc 42:373–376 6. Frikha R, Dahmene J, Ben HR, Chaieb Z, Janhaoui N, Laziz BAM (2006) Congenital absence of the anterior cruciate ligament: eight cases in the same family. Rev Chir Orthop Reparatrice Appar Mot 91:642–648 7. Frioux R, Philippeau JM, Letenneur J (2007) Une anomalie anatomique exceptionelle: l’absence conge´nitale bilate´rale des ligaments croise´s du genou: a` propos d’un cas. Ann Orthop Ouest 39:116–118 8. Gabos PG, Rassi GE, Pahys J (2005) Knee reconstruction in syndromes with congenital absence of the anterior cruciate ligament. J Pediatr Orthop 25:210–214 9. Gardner E, O’Rahilly R (1968) The early development of the knee joint in staged human embryos. J Anat 102:289–299 10. Giorgi B (1956) Morphologic variations of the intercondylar eminence of the knee. Clin Orthop Relat Res 8:209–217 11. Gray DJ, Gardner E (1950) Prenatal development of the human knee and superior tibiofibular joints. Am J Anat 86:235–287 12. Gupte CM, Bull AMJ, Thomas RD, Amis AA (2003) The meniscofemoral ligaments: secondary restraint to the posterior drawer. J Bone Joint Surg Br 85B:765–773 13. Heller L, Langman J (1964) The menisco-femoral ligaments of the human knee. J Bone Joint Surg Br 46:307–313 14. Johansson E, Aparisi T (1982) Congenital absence of the cruciate ligaments: a case report and review of the literature. Clin Orthop Relat Res 162:108–111 15. Kaelin A, Hulin PH, Carlioz H (1986) Congenital aplasia of the cruciate ligaments. A report of six cases. J Bone Joint Surg Br 68:827–828 16. Katz MP, Grogono BJS, Soper KC (1947) The etiology and treatment of congenital dislocation of the knee. J Bone Joint Surg Br 49B:112–120 17. Kwan K, Ross K (2009) Arthrogryposis and congenital absence of the anterior cruciate ligament: a case report. Knee 16:81–82 18. Lucien M (1904) De´veloppement de l’articulation du genou et formation du ligament adipeux. Bull Assoc Anat 13:133–135 19. Malumed J, Hudanich R, Collins M (1999) Congenital absence of the anterior and posterior cruciate ligaments in the presence of bilateral absent patellae. Am J Knee Surg 12:241–243 20. Manner HM, Radler C, Ganger R, Grill F (2006) Dysplasia of the cruciate ligaments: radiographic assessment and classification. J Bone Joint Surg Am 88:130–137 21. McDermott LJ (1943) Development of the human knee joint. Arch Surg 46:705–719
Knee Surg Sports Traumatol Arthrosc (2012) 20:1622–1625 22. Me`rida-Velasco JA, Sa`nchez-Montesinos I, Espı`n-Ferra J, Rodriguez-Vazquez JF, Me`rida-Velasco JR, Jimenez-Collado J (1997) Development of the human knee joint. Anat Rec 248:269–278 23. Noble J (1975) Congenital absence of the anterior cruciate ligament associated with a ring meniscus. J Bone Joint Surg Am 57:1165–1166 24. O’Rahilly R, Muller F (2010) Developmental stages in human embryos: revised and new measurements. Cell Tissues Organs 192:73–84 25. Oransky M, Canero G, Maiotti M (1989) Embryonic development of the posterolateral structures of the knee. Anat Rec 225:347–354 26. Poynton AR, Javadpour SM, Finegan PJ, O’Brien M (1997) The meniscofemoral ligaments of the knee. J Bone Joint Surg Br 79B:327–330
1625 27. Silva A, Sampaio R (2011) Anterior lateral meniscofemoral ligament with congenital absence of the ACL. Knee Surg Sports Traumatol Arthrosc 19:192–195 28. Steckel H, Klinger HM, Baums MH, Schultz W (2005) Cruciate ligament reconstruction in knees with congenital cruciate ligament aplasia. Sportverletz Sportschaden 19:130–133 29. Sutton JB (1887) Ligaments: their nature and morphology. Son and Co, Philadelphia, pp 31–37 30. Thomas NP, Jakson AM, Aichroth PM (1985) Congenital absence of the anterior cruciate ligament a common component of knee dysplasia. J Bone Joint Surg Br 67:572–575 31. Tolo VT (1981) Congenital absence of the menisci and cruciate ligaments of the knee. J Bone Joint Surg Am 63:1022–1024 32. Uhthoff HK (1990) The embryology of the human locomotor system. Springer, Berlin, pp 129–140
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