Variational Anatomy and Developmental Anomalies in Clinical Practice

A special issue of Medicina (ISSN 1648-9144).

Deadline for manuscript submissions: closed (31 December 2020) | Viewed by 39977

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Guest Editor
Head of Institute of Histology and Embryology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovakia
Interests: clinical embryology; clinical anatomy; congenital anomalies; developmental biology; anatomical variations; histological terminology
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Guest Editor
Head of Department of Anatomy, Second Faculty of Medicine, Charles University, Prague, Czech Republic
Interests: clinical anatomy; anatomical variations; anatomical terminology; anatomical nomenclature; variational terminology; congenital anomalies
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Guest Editor
Head of Institute of Macroscopic and Clinical Anatomy, Medical University of Graz, Graz, Austria
Interests: anatomy teaching; clinical anatomy; embalming techniques; head biomechanics; pelvis biomechanics; peripheral neuroanatomy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Morphologists (anatomists, histologists, and embryologists) and physicians of different medical specialties occasionally stumble upon an anatomical peculiarity of an organ or other structure that deviates from what is considered the norm. In most cases, these discoveries are coincidentally made during an anatomical dissection, surgery, or when examining a patient clinically. Anatomical variants represent deviations from the accepted standard human anatomy found in classical textbooks, and taught in universities and dissection rooms. Variations have generally no effect on the function of an organ under normal circumstances. Congenital anomalies (developmental defects), in contrast, are malformations that often have a negative influence on the organ function. The cognition of variations and developmental anomalies is important, not only as an occasion for clinicians to broaden their knowledge, but also for providing an invaluable opportunity for all of us to understand embryology and comparative anatomy more deeply. It is because many congenital anomalies are related to our animal ancestors that they are, in a way, a demonstration of our evolutionary history. Some variations are relatively frequent. For example, “normality” in some arteries varies from 30%–95%, considering the branching pattern. When examining the load-deformation properties of biological tissues, even an eight-fold variation in tissue stiffness is within the range of what can be expected. In other cases, the occurrence of variations is so rare, that any mention in the scientific literature is a true scarcity, but, at the same time, they are also an inspiration for us as morphologists to ponder over their embryonic background.

Most of us were born “normal” from a morphological point of view. Given the importance of anatomical variation and developmental anomality in the field of medicine and clinically oriented research, the journal Medicina is launching this Special Issue. The purpose of this Special Issue is to provide a broad view of human anatomical variations and developmental anomalies, especially for anatomists, surgeons, and radiologists, but also for experts in all fields of allied disciplines related to medicine. These scientific articles will provide new insight into the mechanisms of human malformation, with descriptions of their diagnostics and possible treatment.

It is our pleasure to invite you to submit your manuscript for this Special Issue. Full papers, communications, case-reports, and reviews are all welcome.

Prof. Dr. Ivan Varga
Prof. Dr. David Kachlík
Univ. Prof. Dr. med. habil. Niels Hammer
Guest Editors

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Keywords

  • Variational anatomy
  • Variation in morphology-related function
  • Congenital anomalies
  • Clinical anatomy
  • Clinically oriented embryology
  • Human development
  • Surgical anatomy

Published Papers (12 papers)

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Research

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10 pages, 1628 KiB  
Article
Nasal Cavity CT Imaging Contribution to the Diagnosis and Treatment of Choanal Atresia
by Irina Šebová, Ivana Vyrvová and Jana Barkociová
Medicina 2021, 57(2), 93; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57020093 - 21 Jan 2021
Cited by 1 | Viewed by 2007
Abstract
Background and Objectives: Choanal atresia is the most common congenital malformation of the nose. Materials and Methods: We have evaluated 24 CT images of children with choanal atresia treated at the Department of Pediatric Otorhinolaryngology FM CU and the NICD Bratislava (Slovakia). In [...] Read more.
Background and Objectives: Choanal atresia is the most common congenital malformation of the nose. Materials and Methods: We have evaluated 24 CT images of children with choanal atresia treated at the Department of Pediatric Otorhinolaryngology FM CU and the NICD Bratislava (Slovakia). In accordance with the methodology used by Slovis et al. (1985), we have measured parameters related to anomalous development in the nasal cavity: vomer width, the width of soft atresia and the width of the air space of unilaterally developed choana. Results: In the group of 24 patients, 11 (46%) were male and 13 (54%) were female. The age of patients at the time of CT imaging varied. Associated syndromes had been manifested in 11 (46%) children, with 7 (29%) patients having CHARGE syndrome. In 13 (54%) cases it was a bone membranous type of atresia, in 8 (33%) cases a membranous type, and in 3 (13%) patients a bone type. Among the group of patients, unilateral disorder was present in 13 (54%) patients and bilateral in 11 (46%). Based on the Pearson’s correlation test, we have found in the studied group that the width of the vomer correlates with age, and the vomer is wider in bone atresia than in the membranous ones. Based on determining the average vomer’s width within the age groups 0–8 and >8–20, compared to the standard widths, we found that the vomer’s widths reached the upper limits of the standard ±2 SD (cm) or even exceeded that limit. The same applies to the width in soft choanal atresia. On the other hand, the width of the developed choana in the case of unilateral atresia is almost standard. Conclusions: The above findings are the basis for selecting the appropriate type of surgery. Currently, the gold standard is the endoscopic fenestration. associated with posterior septotomy. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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7 pages, 1572 KiB  
Article
Variations in Subscapularis Muscle Innervation—A Report on Case Series
by Martin Siwetz, Niels Hammer, Benjamin Ondruschka and David C. Kieser
Medicina 2020, 56(10), 532; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56100532 - 12 Oct 2020
Cited by 2 | Viewed by 2056
Abstract
Background and objectives: The subscapularis muscle is typically innervated by two distinct nerve branches, namely the upper and lower subscapular nerve. These usually originate from the posterior cord of the brachial plexus. A large number of variations have been described in previous literature. [...] Read more.
Background and objectives: The subscapularis muscle is typically innervated by two distinct nerve branches, namely the upper and lower subscapular nerve. These usually originate from the posterior cord of the brachial plexus. A large number of variations have been described in previous literature. Materials and Methods: Dissection was carried out in 31 cadaveric specimens. The frequency of accessory subscapular nerves was assessed and the distance from the insertion points of these nerves to the myotendinous junction was measured. Results: Accessory subscapular nerves were found in three cases (9.7%). According to their origin from the posterior cord of the brachial plexus proximal to the thoracodorsal nerve all three nerves were identified as accessory upper subscapular nerves. No accessory lower subscapular nerves were found. Conclusion: Accessory nerves occur rather commonly and need to be considered during surgery, nerve blocks, and imaging procedures. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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14 pages, 7898 KiB  
Article
What Is Considered a Variation of Biomechanical Parameters in Tensile Tests of Collagen-Rich Human Soft Tissues?—Critical Considerations Using the Human Cranial Dura Mater as a Representative Morpho-Mechanic Model
by Johann Zwirner, Mario Scholze, Benjamin Ondruschka and Niels Hammer
Medicina 2020, 56(10), 520; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56100520 - 05 Oct 2020
Cited by 13 | Viewed by 2345
Abstract
Background and Objectives: Profound knowledge on the load-dependent behavior of human soft tissues is required for the development of suitable replacements as well as for realistic computer simulations. Regarding the former, e.g., the anisotropy of a particular biological tissue has to be represented [...] Read more.
Background and Objectives: Profound knowledge on the load-dependent behavior of human soft tissues is required for the development of suitable replacements as well as for realistic computer simulations. Regarding the former, e.g., the anisotropy of a particular biological tissue has to be represented with site- and direction-dependent particular mechanical values. Contrary to this concept of consistent mechanical properties of a defined soft tissue, mechanical parameters of soft tissues scatter considerably when being determined in tensile tests. In spite of numerous measures taken to standardize the mechanical testing of soft tissues, several setup- and tissue-related factors remain to influence the mechanical parameters of human soft tissues to a yet unknown extent. It is to date unclear if measurement extremes should be considered a variation or whether these data have to be deemed incorrect measurement outliers. This given study aimed to determine mechanical parameters of the human cranial dura mater as a model for human soft tissues using a highly standardized protocol and based on this, critically evaluate the definition for the term mechanical “variation” of human soft tissue. Materials and Methods: A total of 124 human dura mater samples with an age range of 3 weeks to 94 years were uniformly retrieved, osmotically adapted and mechanically tested using customized 3D-printed equipment in a quasi-static tensile testing setup. Scanning electron microscopy of 14 samples was conducted to relate the mechanical parameters to morphological features of the dura mater. Results: The here obtained mechanical parameters were scattered (elastic modulus = 46.06 MPa, interquartile range = 33.78 MPa; ultimate tensile strength = 5.56 MPa, interquartile range = 4.09 MPa; strain at maximum force = 16.58%, interquartile range = 4.81%). Scanning electron microscopy revealed a multi-layered nature of the dura mater with varying fiber directions between its outer and inner surface. Conclusions: It is concluded that mechanical parameters of soft tissues such as human dura mater are highly variable even if a highly standardized testing setup is involved. The tissue structure and composition appeared to be the main contributor to the scatter of the mechanical parameters. In consequence, mechanical variation of soft tissues can be defined as the extremes of a biomechanical parameter due to an uncontrollable change in tissue structure and/or the respective testing setup. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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10 pages, 2704 KiB  
Article
The Syndrome of Elongated Styloid Process, the Eagle’s Syndrome—From Anatomical, Evolutionary and Embryological Backgrounds to 3D Printing and Personalized Surgery Planning. Report of Five Cases
by Ladislav Czako, Kristian Simko, Andrej Thurzo, Branislav Galis and Ivan Varga
Medicina 2020, 56(9), 458; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56090458 - 09 Sep 2020
Cited by 12 | Viewed by 8383
Abstract
Background and Objectives: The symptoms of Eagle’s syndrome are associated with the elongated styloid process of the temporal bone or calcification of the stylohyoid ligament. The first mention of pain syndrome associated with the elongated styloid process dates back to 1937, when it [...] Read more.
Background and Objectives: The symptoms of Eagle’s syndrome are associated with the elongated styloid process of the temporal bone or calcification of the stylohyoid ligament. The first mention of pain syndrome associated with the elongated styloid process dates back to 1937, when it was described by Watt Weems Eagle. Over the last decade, experts in the field have shown a lively interest in the issue of the relationship between the elongated styloid process and various symptoms. This article presents the correlation between the clinical signs of Eagle’s syndrome and alterations in surrounding anatomical structures. It includes a brief review of the evolutionary, embryological and clinical anatomical background of the elongated styloid process. Materials and Methods: Between 2018 and 2019, five patients were admitted to our workplace with 1–3-year history of bilateral or unilateral throat pain, otalgia and pharyngeal foreign body sensation. As a therapeutic novelty in the surgical approach to this condition, we used individual 3D printed models to measure and identify the exact location of the resection of the styloid process without damaging the surrounding anatomical structures, such as the facial, accessory, hypoglossal, and vagal nerves; the internal jugular vein; and the internal carotid artery. Results: Compared to traditional surgical methods without 3D models, 3D models helped to better identify cutting edges and major landmarks used in surgical treatment of Eagle’s syndrome. Printed models provided assistance with the exact location of the styloid process resection position without damaging the surrounding anatomical structures such as the facial, accessory, hypoglossal, and vagal nerves; the internal jugular vein; and the internal carotid artery. Conclusion: In our clinical report, we used 3D printed models for navigation and planning during surgical procedures involving resections of the elongated styloid process. Additionally, we can formulate a new hypothesis: the elongated styloid process is a form of atavism of the bony hyoid apparatus in our evolutionary ancestors that is evolutionarily encoded or arises from disrupted degeneration of the middle portion of embryonal Reichert´s cartilage of the second pharyngeal arch. Under normal conditions, this portion does not ossify but degenerates and transforms into a connective tissue band, the future stylohyoid ligament. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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19 pages, 7948 KiB  
Article
A Phylogenetic and Ontogenetic Perspective of the Unique Accumulation of Arterial Variations in One Human Anatomic Specimen
by Bettina Pretterklieber and Michael L. Pretterklieber
Medicina 2020, 56(9), 449; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56090449 - 04 Sep 2020
Cited by 4 | Viewed by 2465
Abstract
Background and objectives: Anatomical dissection is an indispensable means of acquiring knowledge about the variability of the human body. We detected the co-existence of several arterial variations within one female anatomic specimen during routine anatomical dissection. The aim of this study was to [...] Read more.
Background and objectives: Anatomical dissection is an indispensable means of acquiring knowledge about the variability of the human body. We detected the co-existence of several arterial variations within one female anatomic specimen during routine anatomical dissection. The aim of this study was to evaluate if this status is a regular pattern in any of other vertebrates. Materials and Methods: Besides of a meticulous anatomic dissection, we performed a literature review concerning the frequency, the phylogenesis, and ontogenesis of all of these variations. Results: Exceptionally, the middle colic artery arose from an extraordinarily divided celiac trunk. The kidneys received three polar arteries. On the left side, a corona mortis replaced the obturator artery. The aortic arch gave rise to a bicarotid trunk, and the right subclavian artery originated and coursed as a typical lusorial artery leading to a non-recurrent laryngeal nerve on the right side. Furthermore, variations of the branches of the thyrocervical trunk were found to be present. Extraordinarily, in their cervical portion both internal carotid arteries gave rise to two arteries each. All of these variations developed within two to three weeks, around the sixth week of gestation. It was not possible to ascribe all or even one of the variations to a singular species of vertebrates. Conclusion: Apparently, arterial variations are frequently a result of random development. Medical professionals must always be aware of anatomical variations; the absence of such awareness would create major difficulties during surgery. The present case confirms the relevance of anatomical dissection, particularly for medical students. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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Review

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16 pages, 417 KiB  
Review
Variant Anatomy and Its Terminology
by David Kachlík, Ivan Varga, Václav Báča and Vladimír Musil
Medicina 2020, 56(12), 713; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56120713 - 18 Dec 2020
Cited by 21 | Viewed by 3902
Abstract
Variant anatomy, which is an integral part of anatomical science, is related to abnormalities in the human body structure. Our understanding of variant anatomy is based on thousand years of anatomical experience. These abnormalities generally do not interfere with the function of the [...] Read more.
Variant anatomy, which is an integral part of anatomical science, is related to abnormalities in the human body structure. Our understanding of variant anatomy is based on thousand years of anatomical experience. These abnormalities generally do not interfere with the function of the human body and do not typically manifest as pathological nosological units. However, under certain conditions, these abnormalities can worsen existing pathological states or even evoke new ones. Understanding variant anatomy is a basic skill not only of mere anatomists, but also of clinicians who work in fields involving both diagnostic techniques and therapeutic interventions. To gain and retain a good knowledge of the most frequent and clinically relevant anatomical variations, a simple, clear, and exactly defined nomenclature of variant structures is needed. A list of items comprising variant anatomy, which have been incorporated into the internationally accepted nomenclatures Terminologia Anatomica (1998) and Terminologia Neuroanatomica (2017), is described and analyzed. Examples of the most common anatomical variations related to terminology are mentioned, and variant anatomy as a whole and its role in understanding current anatomy are discussed. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
13 pages, 1585 KiB  
Review
Hirschsprung’s Disease—Recent Understanding of Embryonic Aspects, Etiopathogenesis and Future Treatment Avenues
by Martin Klein and Ivan Varga
Medicina 2020, 56(11), 611; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56110611 - 13 Nov 2020
Cited by 19 | Viewed by 5700
Abstract
Hirschsprung’s disease is a neurocristopathy, caused by defective migration, proliferation, differentiation and survival of neural crest cells, leading to gut aganglionosis. It usually manifests rapidly after birth, affecting 1 in 5000 live births around the globe. In recent decades, there has been a [...] Read more.
Hirschsprung’s disease is a neurocristopathy, caused by defective migration, proliferation, differentiation and survival of neural crest cells, leading to gut aganglionosis. It usually manifests rapidly after birth, affecting 1 in 5000 live births around the globe. In recent decades, there has been a significant improvement in the understanding of its genetics and the association with other congenital anomalies, which share the pathomechanism of improper development of the neural crest. Apart from that, several cell populations which do not originate from the neural crest, but contribute to the development of Hirschsprung’s disease, have also been described, namely mast cells and interstitial cells of Cajal. From the diagnostic perspective, researchers also focused on “Variants of Hirschsprung’s disease”, which can mimic the clinical signs of the disease, but are in fact different entities, with distinct prognosis and treatment approaches. The treatment of Hirschsprung’s disease is usually surgical resection of the aganglionic part of the intestine, however, as many as 30–50% of patients experience persisting symptoms. Considering this fact, this review article also outlines future hopes and perspectives in Hirschsprung’s disease management, which has the potential to benefit from the advancements in the fields of cell-based therapy and tissue engineering. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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Other

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9 pages, 1553 KiB  
Case Report
The Pulmonary Venous Return from Normal to Pathological—Clinical Correlations and Review of Literature
by Cristina Claudia Tarniceriu, Loredana Liliana Hurjui, Daniela Maria Tanase, Alin Horatiu Nedelcu, Irina Gradinaru, Manuela Ursaru, Alexandra Stefan Rudeanu, Carmen Delianu and Ludmila Lozneanu
Medicina 2021, 57(3), 293; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57030293 - 22 Mar 2021
Cited by 5 | Viewed by 2673
Abstract
Pulmonary veins carry oxygenated blood from lungs to the left atrium of the heart. The anatomy of the pulmonary veins is variable with some anatomic variants. In clinical practice the difference between the normal anatomy of pulmonary veins with its variants and abnormal [...] Read more.
Pulmonary veins carry oxygenated blood from lungs to the left atrium of the heart. The anatomy of the pulmonary veins is variable with some anatomic variants. In clinical practice the difference between the normal anatomy of pulmonary veins with its variants and abnormal anatomy is very important for clinicians. Variants of pulmonary veins may occur in number, diameter and normal venous return. We present a case report and a review of the literature with the pulmonary venous return that deviates from the usual anatomical configuration and ranges from normal variant drainage to anomalous pulmonary—systemic communication. Initially, it was considered as an anatomical variant of the pulmonary venous return associated with the persistence of the left superior vena cava. Upon detailed exploration it was established that it was an anomaly of the pulmonary venous return which led in time to the installation of its complications. Diagnosis can be difficult, sometimes missed, or only made late in adulthood when complications were installed. Knowledge of variant anatomy and anomalous pulmonary venous return play a crucial role in the diagnostically challenging patient. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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6 pages, 1831 KiB  
Case Report
Rare Anatomic Variation: The Hepatosplenomesentericophrenic Trunk
by Bogdan Gheorghe Hogea, Mugurel Constantin Rusu, Adelina Maria Jianu, Bogdan Adrian Manta and Adrian Cosmin Ilie
Medicina 2021, 57(2), 170; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57020170 - 15 Feb 2021
Cited by 2 | Viewed by 2139
Abstract
The rare anatomic variants of the celiac trunk and superior mesenteric artery include the hepatosplenic, hepatosplenomesenteric (HSMT), celiacomesenteric, hepatomesenteric and gastrosplenic trunks. We report a 72-year-old female patient whose computed tomography angiograms indicated a rare anatomic feature whereby the right inferior phrenic artery [...] Read more.
The rare anatomic variants of the celiac trunk and superior mesenteric artery include the hepatosplenic, hepatosplenomesenteric (HSMT), celiacomesenteric, hepatomesenteric and gastrosplenic trunks. We report a 72-year-old female patient whose computed tomography angiograms indicated a rare anatomic feature whereby the right inferior phrenic artery was inserted in the origin of an HSMT, thus modifying it into a hepatosplenomesentericophrenic trunk (HSMPT). Above the HSMPT, the insertion of the left inferior phrenic artery in the origin of the left gastric artery determined a left gastrophrenic trunk (GPT). Proper identification of this type of rare anatomic variant is of utmost importance prior to different surgical procedures. For example, an HSMT origin of the right inferior phrenic artery is surgically relevant if this artery is an extrinsic pedicle of a hepatocellular carcinoma and is used for embolization of the tumor. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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8 pages, 3719 KiB  
Case Report
Comparing the Results of Vitrectomy and Sclerectomy in a Patient with Nanophthalmic Uveal Effusion Syndrome
by Ivajlo Popov, Veronika Popova and Vladimir Krasnik
Medicina 2021, 57(2), 120; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57020120 - 29 Jan 2021
Cited by 5 | Viewed by 1987
Abstract
Nanophthalmic uveal effusion syndrome (UES) is an extremely rare idiopathic disease characterized by a short axial length of the eye, extremely thick sclera and choroid. These structural changes can lead to spontaneous serous detachment of the retina and peripheral choroid. There are many [...] Read more.
Nanophthalmic uveal effusion syndrome (UES) is an extremely rare idiopathic disease characterized by a short axial length of the eye, extremely thick sclera and choroid. These structural changes can lead to spontaneous serous detachment of the retina and peripheral choroid. There are many other causes of UES such as trauma, inflammation, cataract surgery, glaucoma, or retinal detachment. UES is classified into three types. All are characterized by a relapsing-remitting clinical course. The loss of visual acuity ranges from mild to very severe, depending on macular involvement. Changes of the retinal pigment epithelium develop secondary after long-standing choroidal effusion and retinal detachment. Subretinal exudates could be seen and mistakenly diagnosed as chorioretinitis. UES can be very difficult to treat. The most commonly used treatment is surgery involving the creation of surgical sclerostomies (scleral window surgery) or partial thickness sclerectomies to support transscleral drainage. In our case, we present a bilateral nanophthalmic UES, which was misdiagnosed as bilateral ocular Vogt−Koyanagi−Harada disease. We documented the course of the disease and the results of the different surgical approaches in both eyes. A pars plana vitrectomy was performed in the right eye and a sclerectomy with sclerostomies in the left eye. In the left eye, even long lasting loss of visual acuity due to a serous retinal detachment was partially reversed. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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5 pages, 2881 KiB  
Case Report
The Natural History of Retinal Vascular Changes from Infancy to Adulthood in Wyburn-Mason Syndrome
by Kristina Horkovicova, Ivajlo Popov, Dana Tomcikova, Veronika Popova and Vladimir Krasnik
Medicina 2020, 56(11), 598; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56110598 - 09 Nov 2020
Cited by 1 | Viewed by 1820
Abstract
Wyburn-Mason syndrome is a rare, non-hereditary congenital neurocutaneous disorder leading to arteriovenous malformations. Malformations are characterized by an artery that is directly connected to veins without a capillary system and forms a fragile mass of abnormal vessels. It can be found in the [...] Read more.
Wyburn-Mason syndrome is a rare, non-hereditary congenital neurocutaneous disorder leading to arteriovenous malformations. Malformations are characterized by an artery that is directly connected to veins without a capillary system and forms a fragile mass of abnormal vessels. It can be found in the midbrain, in the eyes, orbit, and rarely in cutaneous nevi. Neurological and ocular symptoms are the most common. Ocular signs and symptoms include abnormally dilatated vessels of conjunctiva, nystagmus, strabismus, vitreous hemorrhage, vein occlusions, retinal detachment, etc. Neurological symptoms may include headaches, paralysis, epistaxis, hydrocephalus, and hemiparesis. Imaging modalities such as MRI/CT angiography, optical coherence angiography, and fluorescein angiography are the most important for the identification of arteriovenous malformations. In our case report, we present an eight-month-old girl with an incidental finding of retinal angiomatosis on the left eye and was subsequently diagnosed with Wyburn-Mason syndrome. We compare the findings from the first visit to her clinical findings 20 years later. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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6 pages, 812 KiB  
Case Report
Intra-Operative Detection of a Left-Sided Non-Recurrent Laryngeal Nerve during Vagus Nerve Stimulator Implantation
by Jason John Labuschagne and Niels Hammer
Medicina 2020, 56(10), 489; https://0-doi-org.brum.beds.ac.uk/10.3390/medicina56100489 - 23 Sep 2020
Cited by 5 | Viewed by 2560
Abstract
Left sided non-recurrent laryngeal nerves (NRLN) are very rarely observed during surgery in the head and neck region. Arising directly from the cervical aspect of the vagus nerve, the NRLN lies in a vulnerable position distant from its normal location. NRLNs are normally [...] Read more.
Left sided non-recurrent laryngeal nerves (NRLN) are very rarely observed during surgery in the head and neck region. Arising directly from the cervical aspect of the vagus nerve, the NRLN lies in a vulnerable position distant from its normal location. NRLNs are normally associated with embryological branchial arch aberrations and subsequent vascular anomalies. The anomalous course of the NRLN makes it more susceptible to injury during surgery in the neck region. Knowledge of this anatomical variant will reduce the potential for injury and resultant vocal cord paralysis. During microsurgical dissection of the carotid sheath for the implantation of a vagus nerve stimulator in a 19-year-old female patient with refractory epilepsy, a moderate-sized branch of the main vagus nerve trunk was identified postero-medially within the carotid sheath. Intra-operative stimulation of this nerve resulted in a compound muscle evoked potential from the left vocal cord. Thus, this branch was confirmed to be a left-sided NRLN. The patient had no associated vascular anomalies. This is first reported case of a left-sided NRLN found during VNS insertion. Awareness of the possibility of an NRLN is imperative to prevent iatrogenic injury. A medial location of the vagus nerve within the carotid sheath should alert the surgeon to the possible presence of an NRLN. The absence of fourth branchial arch remnant anomalies is not a guarantee as to the absence of a left-sided NRLN. The addition of intra-operative nerve monitoring for vagus nerve stimulator (VNS) implantation procedures should be strongly considered to help avoid iatrogenic injury. Full article
(This article belongs to the Special Issue Variational Anatomy and Developmental Anomalies in Clinical Practice)
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