Aplasia of the posterior cruciate ligament: case report and review of the literature

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Case Report

Aplasia of the posterior cruciate ligament: case report and review of the literature

https://doi.org/10.21203/rs.3.rs-3564013/v1

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Hypoplasia or absence of the posterior cruciate ligaments is a very rare congenital malformation. The approach to such cases essentially needs an MRI exam protocol. The management options are variable and require further discussion.

CASE SUMMARY:

The patient is a 23-year-old Saudi male who has been suffering from pain in the right knee joint starting in the last three months, with an increase in the frequency of right knee pain especially with intentional activities.

Magnetic resonance imaging demonstrated an absence/ hypoplasia of the posterior cruciate ligament of the right knee without bone abnormality or subluxation.

The patient follows a regular period of physiotherapy per week.

CONCLUSION:

The diagnosis of posterior cruciate ligament deficiency should be dependent on medical history, patient presentation, and MRI protocol, then appropriate management by a combination of both physical and surgical pathways.

Nuclear Medicine & Medical Imaging

Posterior cruciate ligament

Aplasia

Agenesis

Knee stability

The posterior cruciate ligament (PCL) and anterior cruciate ligament (ACL) are essential stabilizers of the knee joint.

Magnetic resonance imaging (MRI) is usually the modality of choice to diagnose cruciate ligament in different entities with high accuracy. MRI can be used to detect internal derangement of the knee joint. A meticulous MRI technique provides an accurate interpretation of the examination, familiarizing the normal ligament appearance, and studying the imaging anatomy (1).

It is a very rare condition of congenital absence of either unilateral or bilateral cruciate ligaments. Most authors reported cases being related to the anterior cruciate ligament (ACL). Posterior cruciate ligament (PCL) aplasia is described as always having been associated with other congenital abnormalities.

As compared to our case, some authors mentioned reliable clinical manifestations of this condition, such as considerable laxity of the knee joint with a positive anterior and posterior drawer sign, with or without posterior instability. Radiologically, some changes in the tibial eminence of the affected knee. Examination by arthroscopy showed the absence of the cruciate ligament (12).

Moreover, the authors reported measurements of knee laxity and stiffness in documented patients with the absence of the anterior cruciate ligament.

Significant increase in total anterior-posterior laxity of the injured knees and a decrease in anterior stiffness when compared to the non-injured knees in all examined positions of the knee and foot (13).

There is an association of other congenital abnormalities that we read in the literature to be more frequently associated with the condition of anterior cruciate ligament deficiency, and it can be associated with limb abnormality (16).

From our experience, the gold standard for the diagnosis of this condition is arthroscopy, and afterward, a standardized knee MRI protocol exam to make the provisional diagnosis. Andrew J, et al, 2018, emphasize the role of MRI to confirm and depict additional intraarticular abnormalities (14).

There are subsequent management strategies for distinguishing ligament aplasia from chronic posterior cruciate ligament tear. There are some signs in imaging that may guide us to differentiate, as some authors mentioned, besides the absence of the posterior cruciate ligament differences in the thickness and course of meniscal-femoral ligaments (2). For example, Berruto, M. et al, 2012. Reported advanced about the development of the ligamentous structures of the knee, therefore, the most important finding of congenital absence of cruciate ligament was the presence of a posterior menisci-femoral ligament of Wrisberg with cruciate ligaments agenesis and the hypoplasia (3).

2015, S. Vanden Bossche et al, report MRI findings of hypoplasia of the posterior cruciate ligament with the associated presence of ipsilateral aplasia of the anterior cruciate ligament. Radiographically, they mentioned imaging signs that aid in the diagnosis, so the presence of a shallow femoral notch and hypoplastic tibial spines (that's called the “dromedar” sign) (7).

Reviewing the literature, a few articles were published to discuss aplasia or hypoplasia of the cruciate ligaments (3–7, 9–11). Up to date, no previous case was available in the literature, demonstrating aplasia of the posterior cruciate ligament in a young patient.

More recently, there was ultimately discovered a case published in 2019 by Garcia et al, about an old patient presented with low-energy knee torsion and instability which was different clinically from our case.

Our purpose of this case report is to help clinicians and future researchers consider this entity as one of the different diagnoses of recurrent knee pain symptoms, especially in a young patient.

A 23-year-old Saudi male presented with a history of recurrent knee pain starting in the last 3 months, with sensations of instability. No previous history of trauma, injuries, or knee joint surgery was performed.

During the clinical examination, (Positive posterior drawer sign was +), There was no swelling or joint effusion.

The patient doesn’t have any clinical or radiological signs of osteoarthritis.

Clinical examination of the left knee revealed no subjective clinical abnormality.

This patient is one of the youngest with a congenital absence of posterior cruciate ligaments to be treated with possible surgical reconstruction.

On plain radiographs in a standing position, both knee joints demonstrated no axis deviation or bone alterations, the joint alignments were within normal limits, and the surrounding soft tissue was unremarkable. (Fig. 1).

On MRI of the right knee, the PCL was non-visualized with few attached fibers at the PCL tibial footprint in keeping with aplasia/hypoplasia, as well as chronic partial avulsion injury of the patellar tendon insertion (Fig. 2).

A normal morphology and signal intensity of the medial lateral menisci with no gross meniscal tear could be appreciated., intercondylar tibial eminence and articular cartilage, the medial menisci, collateral ligaments, and the ACL were noted and look intact.

A well-corticated displaced bony ossicle at the superior aspect of tibial tuberosity partially attached to the patellar tendon likely represents an old partial avulsion injury.

The rest of the patellar tendon looks intact. The quadriceps tendon is within normal limits. No significant joint effusion.

The strategy of the management was taken in the form of patient physiotherapy three days per week and surgery, to get the complete recovery of knee stability. The 6-month follow-up.

Aplasia or hypoplasia of the cruciate ligament is a very rare condition with a prevalence of 0.017 per 1000 live births.

In contribution to the existing hypotheses on knee ligament development. This study reports a case of posterior cruciate ligament aplasia/hypoplasia of the right knee. It is considered a congenital anomaly, and it begins to develop around the seventh–eighth week of pregnancy as proven by the medical literature.

Virtually, regarding the problem solution of this medical situation, patients discovered with a cruciate ligament agenesis will often need replacement of the knee joint at one point in their lives. (4)

Substantially, it is important for the radiologist to discriminate, and thus far, we found a descriptive analysis of eight cases of congenital agenesis of the anterior cruciate ligament (ACL). R Farikha et al, 2005. enabled a description of the natural history of ACL agenesis, which is different from that of traumatic ACL tears because of the lack of secondary meniscal lesions and the later progression of osteoarthritic degeneration (10).

Basically, the absence of the posterior cruciate ligament (PCL) or anterior cruciate ligament (ACL) is an uncommon congenital malformation that manifests in knee joint instability and can be associated with other abnormalities of the lower limbs such as the absence of the menisci of the knee or agenesis.

Despite the rarity in clinical practice, a few cases of absence of ACL/PCL are reported and published in the literature,

Theoretically, there is a study that has been sought about the main cause of this entity. They performed sequencing of a whole exome, of a family, with two individuals affected by ACL/PCL congenital deficiency. They got a number of variations in the CEP57L1 gene which they considered responsible for the congenital absence of bilateral ACL and PCL ligaments in their patients.

The considerable number of familial case series of anterior cruciate ligament ACL agenesis-related conditions suggest a potential cause of underlying monogenic etiology (5).

Ligamentous reconstruction and surgical stabilization in symptomatic patients with congenital absence of cruciate ligament, results in early improvement of stability at regular clinical follow-up, with minimal possible complication rates (15).

For a total knee arthroplasty prosthesis, the authors report prospective outcomes of using different surgical techniques in a fixed-bearing design. For example, Harman, M, et al, 2014. Published a cohort study on the way of management. They demonstrated that patient outcome measures for all total knee arthroplasty and both resected and retained PCL groups achieved good clinical and functional performance, as well as the clinical knee and function scores and radiographic outcomes were good to excellent for 84% of patients after 5–10 years in vivo.

Eventually, total knee arthroplasty was proved with either surgical technique as suitable for use and providing surgeons with the choice of maintaining or fixing the PCL in these patients (9).

The anatomical variation complex of PCL confuses surgeons during arthroscopy due to its admirable anatomical appearance. Furthermore, it can be either symptomatic or asymptomatic, causing a diagnostic challenge, and insurgency to the conservative treatment. Subsequently, knowledge of anatomical variations in the intraarticular of the knee is helpful for the interpretation of knee MRI.

In the end, the anatomical variations, aplasia, or hypoplasia of the cruciate ligaments should be included in the differential diagnosis, when patients presented with unpredictable or non-specific knee symptoms and clinical investigations are negative.

The PCL variations are frequently revealed by MRI, and thus far if conservative treatment fails, then knee arthroscopy will guide to the definitive management (8).

Finally, the management in the form of osteotomy may be an effective method to treat patients with congenital absence of the cruciate ligament, which may be associated with posterior tibial plateau tilting.

Moreover, the diagnosis of congenital absence cruciate ligament, aplasia, or hypoplasia shall be based on the combination of the patient’s medical history, clinical manifestations, and imaging interpretations to avoid undesirable situations of misdiagnosis.

The appropriate management options should be decided based on the clinical presentation or symptoms, attack frequency, and the favored decision of the individual (9).

This is the first study about the absence of the isolated posterior cruciate ligament PCL fibers in a young patient, which can be misinterpreted for more significant pathology on MRI. The recognition of this entity in recurrent symptomatic patients is highly important to consider the suitable path of treatment.

Ethical Approval and Consent to participate: Application for ethical approval was done from the institutional review board office, King Saud University, Riyadh, Saudi Arabia.

Consent for publication: Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Availability of supporting data: The data used during the current study are not publicly available due to patient privacy but are available from the corresponding author upon reason able request.

Competing interest: The authors declare that they have no conflict of interest.

Funding: This research received no specific grant from any funding agency.

Authors' contributions: Dr.Salha and Dr.Faisal were involved in literatures review and writing of this manuscript. SA acted as a person who starting write this manuscript, offered guidance on publication. FA is the consultant who provided the images with report and review for the manuscript.

Acknowledgements: Not Applicable.

Kam, C. K., Chee, D. W. Y., & Peh, W. C. G. (2010). Magnetic Resonance Imaging of Cruciate Ligament Injuries of the Knee. Canadian Association of Radiologists Journal, 61(2), 80–89. https://doi.org/10.1016/j.carj.2009.11.003
García, N., Debandi, A., Delgado, G., Rosales, J., & Verdugo, M. (2019). Isolated posterior cruciate ligament aplasia: a case report. Skeletal Radiology, 48(9), 1439–1442. https://doi.org/10.1007/s00256-019-3161-3
Berruto, M., Gala, L., Usellini, E., Duci, D., & Marelli, B. (2012). Congenital absence of the cruciate ligaments. Knee Surgery, Sports Traumatology, Arthroscopy, 20(8), 1622–1625. https://doi.org/10.1007/s00167-011-1816-2
Benassi, A. B., Guerreiro, J. P. F., de Oliveira Queiroz, A., Gasparelli, R. G., & Danieli, M. V. (2018). Anterior and posterior cruciate ligament agenesis. Journal of Surgical Case Reports, 2018(8). https://doi.org/10.1093/jscr/rjy216
Liu, Y., Li, Y., March, M. E., Nguyen, K., Xu, K., Wang, F., Guo, Y., Keating, B., Glessner, J., Li, J., Ganley, T. J., Zhang, J., Deardorff, M. A., Xu, X., & Hakonarson, H. (2015). Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Human Genomics, 9(1). https://doi.org/10.1186/s40246-015-0053-z
Harman, M. K., Bonin, S. J., Leslie, C. J., Banks, S. A., & Hodge, W. A. (2014). Total knee arthroplasty designed to accommodate the presence or absence of the posterior cruciate ligament. Advances in Orthopedics, 2014. https://doi.org/10.1155/2014/178156
vanden Bossche, S., Vanzieleghem, B., Declercq, H., & Verstraete, K. v. (2015). Absent Anterior Cruciate Ligament. https://doi.org/10.5334/jbr
Terzidis, I., Papasoulis, E., Marin Fermin, T., & Totlis, T. (2021). Inverted deltoid posterior cruciate ligament femoral insertion accompanied with medial synovial fold: a case of a complex posterior cruciate ligament anatomical variation recalcitrant to conservative treatment. Surgical and Radiologic Anatomy, 43(10), 1667–1672. https://doi.org/10.1007/s00276-021-02801-x
Lu, R., Zhu, D. P., Chen, N., Sun, H., Li, Z. H., & Cao, X. W. (2019). How should congenital absence of cruciate ligaments be treated? A case report and literature review. World Journal of Clinical Cases, 7(19), 3082–3089. https://doi.org/10.12998/wjcc.v7.i19.3082
Frikha, R., Dahmene, J., Ben Hamida, R., Chaieb, Z., Janhaoui, N., & Laziz Ben Ayeche, M. (2005). Absence congénitale du ligament croisé antérieur. A propos de 8 cas [Congenital absence of the anterior cruciate ligament: eight cases in the same family]. Revue de chirurgie orthopedique et reparatrice de l'appareil moteur, 91(7), 642–648. https://doi.org/10.1016/s0035-1040(05)84468-x
Andersson, A. P., & Ellitsgaard, N. (1992). Aplasia of the anterior cruciate ligament with a compensating posterior cruciate ligament. Acta orthopaedica Belgica, 58(2), 240–242.
Johansson, E; Aparisi, T. Missing cruciate ligament in congenital short femur.. The Journal of Bone & Joint Surgery 65(8):p 1109–1115, Oct 1983.
Markolf, K L; Kochan, A; Amstutz, H C. Measurement of knee stiffness and laxity in patients with documented absence of the anterior cruciate ligament.. The Journal of Bone & Joint Surgery 66(2):p 242–252, Feb 1984.
Degnan, Andrew & Kietz, Daniel & Grudziak, Jan & Shah, Amisha. (2018). Bilateral absence of the cruciate ligaments with meniscal dysplasia: Unexpected diagnosis in a child with juvenile idiopathic arthritis. Clinical Imaging. 49. 10.1016/j.clinimag.2018.03.015.
Sachleben, B. C., Nasreddine, A. Y., Nepple, J. J., Tepolt, F. A., Kasser, J. R., & Kocher, M. S. (2019). Reconstruction of Symptomatic Congenital Anterior Cruciate Ligament Insufficiency. Journal of pediatric orthopedics, 39(2), 59–64. https://doi.org/10.1097/BPO.0000000000000940
Kaplan, D., Jazrawi, T., Capo, J., & Strauss, E. (2017). Multiple Ligament Reconstruction for Absent Cruciate and a Congenital Short Femur Case Report and Review of the Literature. Bulletin of the Hospital for Joint Disease (2013), 75(2), 143–147.

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Aplasia of the posterior cruciate ligament: case report and review of the literature

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