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Physical and Natural Crosslinking Approaches on Three-Dimensional Gelatin Microspheres for Cartilage Regeneration

Sulaiman S, Rani RA, Mohamad Yahaya NH, Tabata Y, Hiraoka Y, Seet WT, et al.

Tissue Eng Part C Methods, 2022 10;28(10):557-569.
PMID: 35615885 DOI: 10.1089/ten.TEC.2022.0073

The use of gelatin microspheres (GMs) as a cell carrier has been extensively researched. One of its limitations is that it dissolves rapidly in aqueous settings, precluding its use for long-term cell propagation. This circumstance necessitates the use of crosslinking agents to circumvent the constraint. Thus, this study examines two different methods of crosslinking and their effect on the microsphere's physicochemical and cartilage tissue regeneration capacity. Crosslinking was accomplished by physical (dehydrothermal [DHT]) and natural (genipin) crosslinking of the three-dimensional (3D) GM. We begin by comparing the microstructures of the scaffolds and their long-term resistance to degradation under physiological conditions (in an isotonic solution, at 37°C, pH = 7.4). Infrared spectroscopy indicated that the gelatin structure was preserved after the crosslinking treatments. The crosslinked GM demonstrated good cell adhesion, viability, proliferation, and widespread 3D scaffold colonization when seeded with human bone marrow mesenchymal stem cells. In addition, the crosslinked microspheres enhanced chondrogenesis, as demonstrated by the data. It was discovered that crosslinked GM increased the expression of cartilage-related genes and the biosynthesis of a glycosaminoglycan-positive matrix as compared with non-crosslinked GM. In comparison, DHT-crosslinked results were significantly enhanced. To summarize, DHT treatment was found to be a superior approach for crosslinking the GM to promote better cartilage tissue regeneration.

Matched MeSH terms: Cartilage
Fulltext Comparative Study of Encoder-decoder-based Convolutional Neural Networks in Cartilage Delineation from Knee Magnetic Resonance Images

Yong CW, Lai KW, Murphy BP, Hum YC

Curr Med Imaging, 2021;17(8):981-987.
PMID: 33319690 DOI: 10.2174/1573405616666201214122409

BACKGROUND: Osteoarthritis (OA) is a common degenerative joint inflammation that may lead to disability. Although OA is not lethal, this disease will remarkably affect patient's mobility and their daily lives. Detecting OA at an early stage allows for early intervention and may slow down disease progression.
INTRODUCTION: Magnetic resonance imaging is a useful technique to visualize soft tissues within the knee joint. Cartilage delineation in magnetic resonance (MR) images helps in understanding the disease progressions. Convolutional neural networks (CNNs) have shown promising results in computer vision tasks, and various encoder-decoder-based segmentation neural networks are introduced in the last few years. However, the performances of such networks are unknown in the context of cartilage delineation.
METHODS: This study trained and compared 10 encoder-decoder-based CNNs in performing cartilage delineation from knee MR images. The knee MR images are obtained from the Osteoarthritis Initiative (OAI). The benchmarking process is to compare various CNNs based on physical specifications and segmentation performances.
RESULTS: LadderNet has the least trainable parameters with the model size of 5 MB. UNetVanilla crowned the best performances by having 0.8369, 0.9108, and 0.9097 on JSC, DSC, and MCC.
CONCLUSION: UNetVanilla can be served as a benchmark for cartilage delineation in knee MR images, while LadderNet served as an alternative if there are hardware limitations during production.

Matched MeSH terms: Cartilage
Fulltext Sleeve fracture of the patella in a child

Rasit AH, Sharaf I, Pan KL

Med J Malaysia, 2004 Dec;59 Suppl F:52-3.
PMID: 15941163

Sleeve fracture of the inferior pole of the patella is a rare and distinctive fracture in children with few published reports. These fractures are frequently misdiagnosed and neglected. We highlight a case of a neglected and misdiagnosed sleeve fracture of the patella in an eleven-year-old boy. This was initially diagnosed as an avulsion fracture of the tibial tubercle. A good outcome was achieved after open reduction and internal fixation.

Matched MeSH terms: Cartilage, Articular/injuries*; Cartilage, Articular/surgery; Fractures, Cartilage*
A proposal for needle projections in transcutaneous injection laryngoplasty using three-dimensionally reconstructed CT scans

Nasir ZM, Azman M, Baki MM, Mohamed AS, Kew TY, Zaki FM

Surg Radiol Anat, 2021 Aug;43(8):1225-1233.
PMID: 33388863 DOI: 10.1007/s00276-020-02639-9

PURPOSE: This study aims to determine laryngeal dimension in relation to all three transcutaneous injection laryngoplasty (TIL) approaches (thyrohyoid, transthyroid and cricothyroid) using three-dimensionally reconstructed Computed Tomography (CT) scan and compare the measurements between sex, age group and ethnicity.
METHODS: CT scans of the neck of two hundred patients were analysed by two groups of raters. For thyrohyoid approach, mean distance from the superior border of the thyroid cartilage to the laryngeal cavity (THd) and mean angle from the superior border of the thyroid cartilage to mid-true cords (THa) were measured. For transthyroid approach, mean distance from mid-thyroid cartilage to mid-true cords (TTd) and Hounsfield unit (HU) at mid-thyroid cartilage (TTc) were measured. For cricothyroid approach, mean distance from the inferior border of the thyroid cartilage to the laryngeal cavity (CTd) and mean angle from the inferior border of the thyroid cartilage to mid-true cords (CTa) were measured.
RESULTS: There were statistically significant differences between males and females for all measurements except for CTa (p 0.05). There was a significant fair positive correlation between age and TTc (p = 0.0002). For all measurements obtained, there were moderate to excellent inter-group consistency and intra-rater reliability.
CONCLUSION: This study demonstrated a significant sex dimorphism that may influence the three TIL approaches except for needle angulation in the cricothyroid approach. The knowledge of laryngeal dimension is important to increase success in TIL procedure.

Matched MeSH terms: Cricoid Cartilage/anatomy & histology*; Cricoid Cartilage/surgery; Thyroid Cartilage/anatomy & histology*; Thyroid Cartilage/surgery
Fulltext Cricotracheal separation: a case of delayed diagnosis and treatment

Hashima AR, Marina MB, Sani A

Med J Malaysia, 2011 Jun;66(2):144-5.
PMID: 22106697 MyJurnal

A motorcyclist was involved in a motor vehicle accident and presented with respiratory distress and neck swelling with surgical emphysema. He sustained gross tracheal injury, severe pneumothoraces and lung contusions. As intubation was successful, the tracheal injury was not addressed immediately in view of the other severe respiratory problems. Evidence of aspiration lead to further investigations which confirmed the diagnosis 22 days post trauma. Thyrotracheal anastomosis was carried out without stenting. A complete cricotracheal separation is a rare event and can be easily overlooked in the emergency department.

Matched MeSH terms: Cricoid Cartilage/injuries*
Fulltext Neonatal post-intubation subglottic stenosis

Loi HDK, Parhr AS, Subramaniam SK, Choo KE, Ng HP

Med J Malaysia, 2004 Mar;59(1):126-8.
PMID: 15535351

Acquired subglottic stenosis is a compication or neonatal endotracheal intubation. Although it is rare, it contributes significantly to the morbidity and physical well being of post extubated neonates. A 20-day old neonate, ventilated for meconium aspiration syndrome and persistent fetal circulation, presented with marked stridor and respiratory embarrassment. A stenosed subglottic area was found on rigid bronchoscopy. Anterior cricoid split was performed to relieve the obstruction. He is asymptomatic post operatively.

Matched MeSH terms: Cricoid Cartilage/surgery*
Fulltext Gelatin Microsphere for Cartilage Tissue Engineering: Current and Future Strategies

Sulaiman SB, Idrus RBH, Hwei NM

Polymers (Basel), 2020 Oct 19;12(10).
PMID: 33086577 DOI: 10.3390/polym12102404

The gelatin microsphere (GM) provides an attractive option for tissue engineering due to its versatility, as reported by various studies. This review presents the history, characteristics of, and the multiple approaches to, the production of GM, and in particular, the water in oil emulsification technique. Thereafter, the application of GM as a drug delivery system for cartilage diseases is introduced. The review then focusses on the emerging application of GM as a carrier for cells and biologics, and biologics delivery within a cartilage construct. The influence of GM on chondrocytes in terms of promoting chondrocyte proliferation and chondrogenic differentiation is highlighted. Furthermore, GM seeded with cells has been shown to have a high tendency to form aggregates; hence the concept of using GM seeded with cells as the building block for the formation of a complex tissue construct. Despite the advancement in GM research, some issues must still be addressed, particularly the improvement of GM's ability to home to defect sites. As such, the strategy of intraarticular injection of GM seeded with antibody-coated cells is proposed. By addressing this in future studies, a better-targeted delivery system, that would result in more effective intervention, can be achieved.

Matched MeSH terms: Cartilage; Cartilage Diseases
Scaffolds for Cartilage Regeneration: To Use or Not to Use?

Sha'ban M, Ahmad Radzi MA

Adv Exp Med Biol, 2020;1249:97-114.
PMID: 32602093 DOI: 10.1007/978-981-15-3258-0_7

Joint cartilage has been a significant focus on the field of tissue engineering and regenerative medicine (TERM) since its inception in the 1980s. Represented by only one cell type, cartilage has been a simple tissue that is thought to be straightforward to deal with. After three decades, engineering cartilage has proven to be anything but easy. With the demographic shift in the distribution of world population towards ageing, it is expected that there is a growing need for more effective options for joint restoration and repair. Despite the increasing understanding of the factors governing cartilage development, there is still a lot to do to bridge the gap from bench to bedside. Dedicated methods to regenerate reliable articular cartilage that would be equivalent to the original tissue are still lacking. The use of cells, scaffolds and signalling factors has always been central to the TERM. However, without denying the importance of cells and signalling factors, the question posed in this chapter is whether the answer would come from the methods to use or not to use scaffold for cartilage TERM. This paper presents some efforts in TERM area and proposes a solution that will transpire from the ongoing attempts to understand certain aspects of cartilage development, degeneration and regeneration. While an ideal formulation for cartilage regeneration has yet to be resolved, it is felt that scaffold is still needed for cartilage TERM for years to come.

Matched MeSH terms: Cartilage, Articular/physiology*
Fulltext Lateral thyroid cartilage thyrotomy approach to an embedded paraglottic fishbone

Wong HT, Tham SY, Elangkumaran K, Ng W, Sia KJ

Ann R Coll Surg Engl, 2017 Mar;99(3):e1-e2.
PMID: 28071949 DOI: 10.1308/rcsann.2017.0010

Fishbones are of particular interest to otolaryngologists. Most fishbones can be removed transorally or via endoscopic guidance. Transcervical neck exploration is occasionally necessary, especially in cases of an embedded foreign body. Computed tomography is the most sensitive and specific imaging modality for identifying embedded fishbones. To our knowledge, this is the first reported case of a laryngeal foreign body embedded in the paraglottic space that was removed using an open approach via a lateral thyroid cartilage window.

Matched MeSH terms: Thyroid Cartilage/surgery
Fulltext An in vitro investigation to understand the synergistic role of MMPs-1 and 9 on articular cartilage biomechanical properties

Mixon A, Savage A, Bahar-Moni AS, Adouni M, Faisal T

Sci Rep, 2021 07 13;11(1):14409.
PMID: 34257325 DOI: 10.1038/s41598-021-93744-1

Matrix metalloproteinases (MMPs) play a crucial role in enzymatically digesting cartilage extracellular matrix (ECM) components, resulting in degraded cartilage with altered mechanical loading capacity. Overexpression of MMPs is often caused by trauma, physiologic conditions and by disease. To understand the synergistic impact MMPs have on cartilage biomechanical properties, MMPs from two subfamilies: collagenase (MMP-1) and gelatinase (MMP-9) were investigated in this study. Three different ratios of MMP-1 (c) and MMP-9 (g), c1:g1, c3:g1 and c1:g3 were considered to develop a degradation model. Thirty samples, harvested from bovine femoral condyles, were treated in groups of 10 with one concentration of enzyme mixture. Each sample was tested in a healthy state prior to introducing degradative enzymes to establish a baseline. Samples were subjected to indentation loading up to 20% bulk strain. Both control and treated samples were mechanically and histologically assessed to determine the impact of degradation. Young's modulus and peak load of the tissue under indentation were compared between the control and degraded cartilage explants. Cartilage degraded with the c3:g1 enzyme concentration resulted in maximum 33% reduction in stiffness and peak load compared to the other two concentrations. The abundance of collagenase is more responsible for cartilage degradation and reduced mechanical integrity.

Matched MeSH terms: Cartilage, Articular*
Protease activated receptor 2 and matriptase expression in the joints of cats with and without osteoarthritis

Ariffin SMZ, Bennett D, Ferrell WR, Lockhart JC, Dunning L, Clements DN, et al.

J Feline Med Surg, 2021 08;23(8):794-803.
PMID: 33284033 DOI: 10.1177/1098612X20977796

OBJECTIVES: The aim of this study was to determine the presence of protease-activated receptor 2 (PAR2) and matriptase proteins and quantify PAR2 and matriptase mRNA expression in the articular cartilage and synovial membrane of cats with and without osteoarthritis (OA).
METHODS: A total of 28 articular cartilage samples from adult cats (14 OA and 14 normal), 10 synovial membranes from adult cats (five OA and five normal) and three cartilage samples from 9-week-old fetal cats were used. The presence of PAR2 and matriptase in the cartilage and synovial membrane of the adult samples was detected by immunohistochemical (IHC) staining, while real-time PCR was used for mRNA expression analyses in all samples.
RESULTS: PAR2 was detected in all OA and normal articular cartilage and synovial membrane samples but confined to only a few superficial chondrocytes in the normal samples. Matriptase was only detected in OA articular cartilage and synovial membrane samples. PAR2 and matriptase mRNA expression were, however, detected in all cartilage and synovial membrane samples. PAR2 and matriptase mRNA expression levels in OA articular cartilage were five (P <0.001) and 3.3 (P <0.001) times higher than that of the healthy group, respectively. There was no significant difference (P = 0.05) in the OA synovial membrane PAR2 and matriptase mRNA expression compared with the normal samples.
CONCLUSIONS AND RELEVANCE: Detection of PAR2 and matriptase proteins and gene expression in feline articular tissues is a novel and important finding, and supports the hypothesis that serine proteases are involved in the pathogenesis of feline OA. The consistent presence of PAR2 and matriptase protein in the cytoplasm of OA chondrocytes suggests a possible involvement of proteases in cartilage degradation. Further investigations into the PAR2 and matriptase pathobiology could enhance our understanding of the proteolytic cascades in feline OA, which might lead to the development of novel therapeutic strategies.

Matched MeSH terms: Cartilage, Articular*
Fulltext Otitis externa complicated with chloramphenicol ear drops-induced perichondritis

Mohamad I, Johan K, Hashim H, Nik Othman N

Malays Fam Physician, 2014;9(1):28-9.
PMID: 25606295 MyJurnal

Otitis externa is a common condition of the ear. It is manifested as narrowing of the lumen owing to the edematous swelling of the ear canal lining. Perichondritis may occur independently or as a complication of the otitis externa. We report a case of perichondritis after using a topical ear drop. Changing the medication provides immediate resolution of the condition.

Matched MeSH terms: Cartilage Diseases
Physiological assessment of in vivo human knee articular cartilage using sodium MR imaging at 1.5 T

Hani AF, Kumar D, Malik AS, Razak R

Magn Reson Imaging, 2013 Sep;31(7):1059-67.
PMID: 23731535 DOI: 10.1016/j.mri.2013.01.007

Osteoarthritis is a common joint disorder that is most prevalent in the knee joint. Knee osteoarthritis (OA) can be characterized by the gradual loss of articular cartilage (AC). Formation of lesion, fissures and cracks on the cartilage surface has been associated with degenerative AC and can be measured by morphological assessment. In addition, loss of proteoglycan from extracellular matrix of the AC can be measured at early stage of cartilage degradation by physiological assessment. In this case, a biochemical phenomenon of cartilage is used to assess the changes at early degeneration of AC. In this paper, a method to measure local sodium concentration in AC due to proteoglycan has been investigated. A clinical 1.5-T magnetic resonance imaging (MRI) with multinuclear spectroscopic facility is used to acquire sodium images and quantify local sodium content of AC. An optimised 3D gradient-echo sequence with low echo time has been used for MR scan. The estimated sodium concentration in AC region from four different data sets is found to be ~225±19mmol/l, which matches the values that has been reported for the normal AC. This study shows that sodium images acquired at clinical 1.5-T MRI system can generate an adequate quantitative data that enable the estimation of sodium concentration in AC. We conclude that this method is potentially suitable for non-invasive physiological (sodium content) measurement of articular cartilage.

Matched MeSH terms: Cartilage/pathology; Cartilage, Articular/pathology*
A preliminary study of the effects of glucosamine sulphate and chondroitin sulphate on surgically treated and untreated focal cartilage damage

Kamarul T, Ab-Rahim S, Tumin M, Selvaratnam L, Ahmad TS

Eur Cell Mater, 2011 Mar 15;21:259-71; discussion 270-1.
PMID: 21409755

The effects of Glucosamine Sulphate (GS) and Chondroitin Sulphate (CS) on the healing of damaged and repaired articular cartilage were investigated. This study was conducted using 18 New Zealand white rabbits as experimental models. Focal cartilage defects, surgically created in the medial femoral condyle, were either treated by means of autologous chondrocyte implantation (ACI) or left untreated as controls. Rabbits were then divided into groups which received either GS+/-CS or no pharmacotherapy. Three rabbits from each group were sacrificed at 12 and 24 weeks post-surgery. Knees dissected from rabbits were then evaluated using gross quantification of repair tissue, glycosaminoglycan (GAG) assays, immunoassays and histological assessments. It was observed that, in contrast to untreated sites, surfaces of the ACI-repaired sites appeared smooth and continuous with the surrounding native cartilage. Histological examination demonstrated a typical hyaline cartilage structure; with proteoglycans, type II collagen and GAGs being highly expressed in repair areas. The improved regeneration of these repair sites was also noted to be significant over time (6 months vs. 3 months) and in GS and GS+CS groups compared to the untreated (without pharmacotherapy) group. Combination of ACI and pharmacotherapy (with glucosamine sulphate alone/ or with chondroitin sulphate) may prove beneficial for healing of damaged cartilage, particularly in relation to focal cartilage defects.

Matched MeSH terms: Cartilage, Articular/drug effects*; Cartilage, Articular/pathology; Cartilage, Articular/surgery*
Articular cartilage restoration in load-bearing osteochondral defects by implantation of autologous chondrocyte-fibrin constructs: an experimental study in sheep

Munirah S, Samsudin OC, Chen HC, Salmah SH, Aminuddin BS, Ruszymah BH

J Bone Joint Surg Br, 2007 Aug;89(8):1099-109.
PMID: 17785753

Ovine articular chondrocytes were isolated from cartilage biopsy and culture expanded in vitro. Approximately 30 million cells per ml of cultured chondrocytes were incorporated with autologous plasma-derived fibrin to form a three-dimensional construct. Full-thickness punch hole defects were created in the lateral and medial femoral condyles. The defects were implanted with either an autologous 'chondrocyte-fibrin' construct (ACFC), autologous chondrocytes (ACI) or fibrin blanks (AF) as controls. Animals were killed after 12 weeks. The gross appearance of the treated defects was inspected and photographed. The repaired tissues were studied histologically and by scanning electron microscopy analysis. All defects were assessed using the International Cartilage Repair Society (ICRS) classification. Those treated with ACFC, ACI and AF exhibited median scores which correspond to a nearly-normal appearance. On the basis of the modified O'Driscoll histological scoring scale, ACFC implantation significantly enhanced cartilage repair compared to ACI and AF. Using scanning electron microscopy, ACFC and ACI showed characteristic organisation of chondrocytes and matrices, which were relatively similar to the surrounding adjacent cartilage. Implantation of ACFC resulted in superior hyaline-like cartilage regeneration when compared with ACI. If this result is applicable to humans, a better outcome would be obtained than by using conventional ACI.

Matched MeSH terms: Cartilage, Articular/metabolism; Cartilage, Articular/physiology; Cartilage, Articular/surgery*
Fulltext Extracellular Vesicles in the Synovial Joint: Is there a Role in the Pathophysiology of Osteoarthritis?

Esa A, Connolly KD, Williams R, Archer CW

Malays Orthop J, 2019 Mar;13(1):1-7.
PMID: 31001376 DOI: 10.5704/MOJ.1903.012

The role of extracellular vesicles (EV) in osteoarthritis has become the focus of much research. These vesicles were isolated from several cell types found in synovial joint including chondrocytes and synovium. As articular cartilage is an avascular tissue surrounded by synovial fluid, it is believed that EV might play a crucial role in the homeostasis of cartilage and also could hold key information in the pathogenesis of osteoarthritis. This is thought to be due to activation of pro-inflammatory factors leading to a catabolic state and degradation of cartilage. In addition, due to the nature of articular cartilage lacking neuronal innervation, knowledge of EV can contribute to identification of novel biomarkers in this debilitating condition. This can be either directly isolated from aspirate of synovial fluid or from peripheral blood. Finally, EVs are known to shuttle important signalling molecules which can be utilised as unique modality in transferring therapeutic compounds in a cell free manner.

Matched MeSH terms: Cartilage, Articular
Fulltext Mesenchymal stromal cells for cartilage repair in osteoarthritis

Mamidi MK, Das AK, Zakaria Z, Bhonde R

Osteoarthritis Cartilage, 2016 Aug;24(8):1307-16.
PMID: 26973328 DOI: 10.1016/j.joca.2016.03.003

Treatment for articular cartilage damage is quite challenging as it shows limited repair and regeneration following injury. Non-operative and classical surgical techniques are inefficient in restoring normal anatomy and function of cartilage in osteoarthritis (OA). Thus, investigating new and effective strategies for OA are necessary to establish feasible therapeutic solutions. The emergence of the new discipline of regenerative medicine, having cell-based therapy as its primary focus, may enable us to achieve repair and restore the damaged articular cartilage. This review describes progress and development of employing mesenchymal stromal cell (MSC)-based therapy as a promising alternative for OA treatment. The objective of this review is to first, discuss how in vitro MSC chondrogenic differentiation mimics in vivo embryonic cartilage development, secondly, to describe various chondrogenic differentiation strategies followed by pre-clinical and clinical studies demonstrating their feasibility and efficacy. However, several challenges need to be tackled before this research can be translated to the clinics. In particular, better understanding of the post-transplanted cell behaviour and learning to enhance their potency in the disease microenvironment is essential. Final objective is to underscore the importance of isolation, storage, cell shipment, route of administration, optimum dosage and control batch to batch variations to realise the full potential of MSCs in OA clinical trials.

Matched MeSH terms: Cartilage, Articular
Fulltext Modified Harrington Procedure for Acetabular Insuficiency Due to Metastatic Malignant Disease

Faisham, W.I., Muslim, D.A.J., Bhavaraju, V.M.K., Nawaz, A.H., Zulmi, W.

Malays Orthop J, 2009;3(1):36-41.
MyJurnal

Extensive peri-acetabular osteolysis caused by malignant disease process is a major surgical challenge as conventional hip arthroplasty is not adequate. We describe a modified use of the Harrington procedure for acetabular insufficiency secondary to metastatic disease in twelve patients. The procedures include application of multiple threaded pins to bridge the acetabular columns, anti-protrusio cage and cemented acetabular cup. Eleven patients were able to walk pain free and achieved a mean Musculoskeletal Tumour Society Functional Score of 80 (range, 68 to 86).

Matched MeSH terms: Cartilage Diseases
Design and validation of a bi-axial loading bioreactor for mechanical stimulation of engineered cartilage

Yusoff N, Abu Osman NA, Pingguan-Murphy B

Med Eng Phys, 2011 Jul;33(6):782-8.
PMID: 21356602 DOI: 10.1016/j.medengphy.2011.01.013

A mechanical-conditioning bioreactor has been developed to provide bi-axial loading to three-dimensional (3D) tissue constructs within a highly controlled environment. The computer-controlled bioreactor is capable of applying axial compressive and shear deformations, individually or simultaneously at various regimes of strain and frequency. The reliability and reproducibility of the system were verified through validation of the spatial and temporal accuracy of platen movement, which was maintained over the operating length of the system. In the presence of actual specimens, the system was verified to be able to deliver precise bi-axial load to the specimens, in which the deformation of every specimen was observed to be relatively homogeneous. The primary use of the bioreactor is in the culture of chondrocytes seeded within an agarose hydrogel while subjected to physiological compressive and shear deformation. The system has been designed specifically to permit the repeatable quantification and characterisation of the biosynthetic activity of cells in response to a wide range of short and long term multi-dimensional loading regimes.

Matched MeSH terms: Cartilage/physiology*; Cartilage, Articular/physiology
Fulltext Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity

Mahmud N, Abdul Latif H, Mohd Zaki F, Goh BS

BMJ Case Rep, 2021 Apr 02;14(4).
PMID: 33811090 DOI: 10.1136/bcr-2020-236888

Pfeiffer syndrome is a rare inherited craniofacial disorder. Upper airway obstruction is common among patients with Pfeiffer syndrome due to craniosynostosis. They may also present with lower respiratory tract obstruction due to a rare congenital airway malformation called tracheal cartilaginous sleeve (TCS). We report the case of a patient with Pfeiffer syndrome who presented with recurrent bronchopneumonia, discovered incidentally to have TCS via direct visualisation during tracheostomy. Relevant literature for this rare clinical condition are reviewed and discussed. Clinicians should be aware of TCS when encountering patients with craniosynostosis who present with recurrent lower respiratory tract infections. Careful and meticulous investigations should be performed to look for TCS, especially in patients with craniosynostosis.

Matched MeSH terms: Cartilage

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