Neurovascular Lesion Research Articles

No effect of dislocation status at arrival in emergency department on outcome of knee joint dislocations.

Knee dislocation is a rare but severe injury of the lower extremities. The aim of this study was to report on the epidemiology, diagnostics and treatment of such injuries and to identify negative predictors of clinical outcomes. This retrospective analysis included all knee dislocations treated at a Level I Trauma Centre in Germany between 2009 and 2021. Medical records were categorised, collected and analysed in a standardised manner. A follow-up visit 1 year after the injury focused on limitations in knee mobility. A total of 120 knee dislocations were included in the study. 29.3% of patients presented to the emergency department with a dislocated joint, and 17.5% (n = 21) had a neurovascular lesion. At follow-up 12 months after the injury, 65.8% of the patients reported limitations in the range of motion, and 11.7% (n = 14) reported severe limitations in daily activities. Site infections due to surgery occurred in 3.3% of patients. Increased body weight (r = 0.294; p < 0.001 and r = 0.259; p = 0.004), an increased body mass index above 25 kg/m2 (body mass index, r = 0.296; p < 0.001 and r = 0.264; p = 0.004) and deficits in peripheral perfusion as well as sensory and motor function (r = 0.231;p = 0.040 and r = -0.192; p = 0.036) were found to be negative predictive factors for clinical outcome. For posttraumatic neurovascular injury, lack of peripheral perfusion, insufficient sensory and motor function (r = -0.683; p < 0.0001), as well as a higher Schenck grade (r = 0.320; p = 0.037),were identified as independent risk factors. The status of dislocation at the site of the accident and on arrival at the emergency department had no impact on the outcome or neurovascular injury. Knee dislocation is a rare injury with a high rate of severe complications such as neurovascular lesions. In particular, the initial status of neurovascular structures and injury classification showed a relevant negative correlation with the posttraumatic status of nerves and vessels. In particular, patients with these characteristics need close monitoring to prevent negative long-term consequences. Level III.

Meet the First Authors.

Meet the First Authors.

Neurovascular hamartoma: a case report of a tongue lesion

Hamartoma is a proliferation of normal cells and tissues, which are considered endogenous to the site of injury. Oral neurovascular hamartoma (NVH) presents as exophytic lesions, usually with a smooth surface, and less than 10 mm in diameter. Hamartomas arising in the oral cavity are uncommon and may show a variety of clinical presentations and histological and growth patterns. We present a case of oral neurovascular hamartoma lesion in the tongue of a 47-year-old individual, consisting of nerve bundles and blood vessels. Although rare, the neurovascular hamartoma should be considered in the differential diagnosis of tongue lesions.

Food Dietary Choices Predict Brain Volume and Neurovascular Lesion Load 10 Years Later

AbstractBackgroundThe population age structure in the U.S. is advancing, as to is the prevalence of Alzheimer’s disease and related dementias despite life expectancy stagnating in recent years. Decline in neural parameters like brain volume and lesion density are expected with advanced age, but rate and severity of loss and function vary widely. Here, we examined how 149 variables representing the total diet could predict or explain variation in total brain volume and lesion density.MethodsAmong 10,938 adults aged 45 to 80 from the UK Biobank, food choices for 149 items were measured using the 24‐hour Dietary Recall questionnaire and collected up to 5 times over the course of a year. Our outcomes of interest were total brain volume and white matter hyperintensity load, which were derived from a structural Magnetic Resonance Imaging scan conducted 10 years after baseline. Structural equation models of correlated outcomes, using a Backwards selection method (p&lt;.05), were used to identify the most significant food choice predictors.ResultsOver a period of 10 years, more total brain volume was related to consuming more calories in general, water, various coffee preparations, and teas, hard cheeses, whole grain products, pomme fruits like apples and pears, and to some degree various desserts. Conversely, less total brain volume was seen with consuming more red and rose wine, certain vegetables and mushrooms, potatoes, crackers, and beef. For white matter hyperintensities, less lesion load was seen with consuming more mangoes, apiaceae vegetables like carrots and celery, allium vegetables like onions and leeks, spinach, sweet potatoes, and cow’s milk of any fat percentage. Conversely, greater lesion load was seen with consuming refined chocolates, processed meats and shellfish, fried potatoes, beets, eggs, mushrooms, and vitamin B6 or calcium supplements.ConclusionMaintaining brain health was generally related to consuming more water, fruits and vegetables, complex vs. simple carbohydrates, certain sweets, and dairy products while avoiding processed meats, eggs, and mushrooms. Future work will elucidate how whole food choices are related to functional brain imaging outcomes.

Gartland type III supracondylar fracture in children: is open reduction really a dangerous choice?

BackgroundType III supracondylar fractures represent a difficult injury to treat and there is no universal consensus regarding the best treatment. The purpose of this study is to assess the incidence of complication associated with open reduction and compare open reduction vs closed reduction, in order to determine which treatment lead to better clinical and radiological outcomes. Is open reduction really associated with a higher number of iatrogenic complication and worse clinical outcomes in comparison to closed reduction? MethodsA total of 55 patients, affected by type III supracondylar humerus fracture, were retrospectively selected and divided into two groups according to which type of treatment they received (open reduction or closed reduction). Major complications correlated with surgical procedure, such as infections, neurovascular iatrogenic lesions, elbow stiffness and painful scarring were assessed. The treatment outcomes and clinical features were compared among the two groups. A statistical analysis to find association between the type of reduction, the restored elbow anatomy and the clinical outcomes were performed. The follow-up varies between 1 year and 7 years. ResultsNo major complications occurred in our series of patients. Excellent and good outcomes were reported among all 26 patients that underwent an open reduction surgery and in 23 out of the 29 patients who received a closed reduction surgery. A higher number of patients in the open reduction group presented angles with normal values; moreover 3 out of the 6 patients with unsatisfactory outcomes presented with angles not in range, underlying the presence of a connection between the restored elbow anatomy and the clinical outcomes. There were no differences among the two groups regarding the presence of complications. DiscussionOpen reduction should not be considered as a first line option of treatment in any pediatric patient with a type III supracondylar humerus fracture, but in several cases open surgery must be viewed as the choice with the best outcomes not only in presence of neurovascular lesion but also in case of irreducible fracture.

A floating fifth metacarpal

A 33-year-old man injured his left little finger following a fall on his left hand with fist closed in a soccer match. He was transferred to the emergency room. The clinical examination revealed deformation, pain and functional impotence of the fifth finger of the left hand. Mobilization and palpation of the digit were painful along and there was no sign of a digital neurovascular lesion. X-rays showed a simultaneous dislocation of the fifth metacarpophalangeal and carpometacarpal joints (A). The treatment consisted of a closed orthopaedic reduction under loco-regional anaesthesia by external manoeuvres directed in the opposite direction of the injury followed by percutaneous Kirschner wires fixation under fluoroscopic guidance (B). The hand was immobilised for six weeks, then the wires were removed and began functional rehabilitation. The three-month check showed a painless stable carpometacarpal and metacarpiphalangeal joints with symmetrical extension and flexion of the little left finger. At the 16-month follow-up, the patient doesn´t complain of stiffness of the left little finger and there was no pain or chronic instability. A floating fifth metacarpal is very rare. In complex dislocation of the little finger metacarpophalangeal joint, the volar plate can be trapped in the joint space, making closed reduction impossible and indicating volar plate entrapment. In general the prognosis is favourable.

Neurovascular Lesions in Pediatric Epilepsy.

Neurovascular lesions are rare and understudied in the pediatric population. Their initial presentation can range from seizures to focal neurologic deficits, as well as headaches. The goal of this study was to examine the clinical presentation and natural history of neurovascular lesions in children with epilepsy. We reviewed all pediatric epilepsy patients with neurovascular lesions diagnosed between 2006 and 2018 at the University of Alberta and the Stollery Children's Hospital, Edmonton, Canada. Initial clinical presentation and brain imaging, as well as long-term epilepsy and postsurgical outcome, were assessed. Of the 14 patients, 10 patients had an initial presentation of focal seizures with impaired awareness, whereas 2 patients presented with headache, 1 presented with visual field defects as well as chronic headaches, and 1 with decreased level of consciousness. Seven patients had cavernous angiomas, 6 had arteriovenous malformation, and 1 patient had an arteriovenous fistula. Notably, all patients with cavernous angiomas and 4 of 6 patients with arteriovenous malformations presented with seizures. Among 9 of the 14 who underwent neurovascular corrective surgery, all 9 patients required long-term antiepileptic treatment of at least 1 antiepileptic drug for seizure control after the operation. In this novel case series, we describe focal seizures as the initial presentation of pediatric neurovascular lesions. This clinical presentation appears to be independent of the type of neurovascular lesion. Furthermore, unlike our pediatric surgical patients with epilepsy due to other causes, seizure freedom following neurovascular surgery is limited, and patients require long-term antiepileptic treatment.

Modified percutaneous retrograde intramedullary screwing into superior pubic ramus or anterior acetabular column for pelvic and acetabular injury

Objective To evaluate the safety and accuracy of modified percutaneous retrograde intramedullary screwing into the superior pubic ramus or anterior acetabular column for pelvic and acetabular injury. Methods A retrospective analysis was conducted of the 23 patients with pelvic and acetabular injury who had been treated with modified percutaneous retrograde intramedullary screwing into the superior pubis ramus or anterior acetabular column from June 2015 to June 2017 in Luoyang Orthopaedic Hospital of Henan Province. They were 12 men and 11 women, aged from 22 to 88 years (mean, 53 years). The injury included 17 pelvic fractures, 4 acetabular fractures, and 2 acetabular plus pelvic fractures. The safety and accuracy of screwing were assessed by postoperative physical and imaging examinations. The number of fluoroscopy and operative time were documented for each retrograde intramedullary screwing into the pubic symphysis or acetabular anterior column. The quality of fracture reduction was evaluated by the Mata criteria postoperatively. The Majeed and the Harris scores were used to evaluate the functional recovery of the pelvis and acetabulum at the last follow-ups. Results A total of 31 intramedullary screws were placed in the 23 patients. For insertion of one screw, the operative time ranged from 15 to 50 min (average, 35 min) and the number of fluoroscopy from 32 to 55 times (average, 45 times). Postoperative physical examinations revealed no iatrogenic neurovascular lesion and uneventful healing of incisions in all the patients. Postoperative imaging examinations showed that 29 screws were located completely in the bone and 2 ones protruded the cortical bone of the pubic anterior border; all the screws did not protrude into the acetabulum or broke through the pubic symphysis or the pubic cortex. By the Matta criteria, the postoperative fracture reduction was rated as excellent in 17 cases, good in 5 and fair in one, giving an excellent to good rate of 95.7%. Of this series, 19 were followed up for 6 to 24 months (mean, 13 months). All the fractures healed after 3 months. The Majeed scores at the last follow-up for the 13 patients with pelvic fracture were excellent in 12 and good in one. The Harris scores at the last follow-up for the 6 patients with acetabular fracture (including the 2 with pelvic fracture) were excellent in 5 and fair in one. Conclusion The modified percutaneous retrograde intramedullary screwing into the superior pubic ramus or anterior acetabular column is safe, convenient and precise, effectively reducing radiation and operative time. Key words: Pelvis; Acetabulum; Fracture fixation, internal; Surgical procedures, minimal invasive; Surgical techniques

120 Successful Cosmetic Reduction Corporoplasty and Scrotoplasty in a Patient with the Complaint of Self-perceived too Large Penis and Scrotum

Cosmetic reduction of a normal penis. A 48 year-old male with normal and harmonious sex life and normal erectile function wanted a significant size reduction of his penis. Actually, he had been thinking of and wishing a penile and scrotum reduction for the past 10 years. Since no surgical technique was available in the literature to perform such a reductive phalloplasty, we sought to set up an innovant technique of corporoplasty. A six months evaluation included two successive psychological evaluations and seven medical consultations to urologists. This patient had no psychological disorders and no co-morbidity. A serious preoperative informed consent was obtained from the patient. Preoperative measurements of the girth and length of the penis were 10cm and 11cm in the flaccid state, respectively, and 15.5cm and 16cm, respectively, at erection. The first step was a complete degloving of the penis, with dissection of the Buck fascia and the dorsal neuro-vascular bundle, to have a good exposure and to avoid any neuro-vascular lesion. Then the reduction in girth was done by a lateral longitudinal albuginea resection on the penile part of the two corpora cavernosa. A running suture was carried out to close the corpora, with a non-resorbable mono-filament material. Afterwards the reduction in length was done by a plication technique. A modified «Tom Lue Dot plication» was used by applying this technique to the 4 meridians (dorsal and ventral). Finally, a scrotoplasty was done to achieve a harmonious and proportional aspect of the genitalia.

Neurovascular Lesion Caused by Non-Lethal Projectile in Cervical Region

Neurovascular Lesion Caused by Non-Lethal Projectile in Cervical Region

A Systematic Review of Cerebral Arteriovenous Malformation Management

Cerebral Arteriovenous Malformation is a neurovascular lesion characterized by an abnormal connection between arterial and venous systems, resulting in a tangle of blood vessels lacking intervening capillaries. The goal of treatment is to prevent catastrophic hemorrhage, neurological injury, or death. Despite the availability of multiple cutting-edge treatment options there is little consensus on the most promising approaches for treatment due to the novelty of each Arteriovenous Malformation case. This analysis will link the various angioarchitectural characteristics and associated presentations of Arteriovenous Malformation to treatment modalities. In the era of personalized medicine, genomics-driven research to normalize by drawing parallels between Cerebral Cavernous Malformation and Arteriovenous Malformation, both of which are characterized by hemorrhage-prone vascular malformations, may provide insight for the development of pharmacological therapy. Understanding the underlying mechanisms and genes responsible for the symptoms will allow us to better treat patients in a non-invasive manner and paves future directions in Arteriovenous Malformation treatment.

Early Morbidity and Mortality in 50 Very Elderly Patients After Posterior Atlantoaxial Fusion for Traumatic Odontoid Fractures

Traumatic odontoid fractures (tOFs) in the very elderly are associated with high morbidity and mortality. The best treatment strategy (conservative vs. surgery) is still unclear. Between April 2008 and April 2014, fifty (17 male, 33 female) patients (mean age 87.2 ± 4.4 years; range: 80-99) were included in this retrospective cohort study. All patients underwent posterior fusion surgery for tOF. Early outcome, morbidity and mortality, length of hospital and intensive care unit (ICU) stay, comorbidities, and perioperative complications were assessed. The mean age-adjusted Charlson Comorbidity Index (CCI) was 5.8 ± 3.9 (range: 0-13), and the mean American Society of Anesthesiologists score was 3 ± 0.5 (range: 2-4). Surgery was delayed in 48% of patients. Thirty percent of patients had preoperative complications (72.4% severe), of which a leading cause was dysphagia with subsequent pneumonia, and 18% required preoperative assessment or improvement of health status. Surgery-related complications were experienced in 14% with no neurovascular lesion. Postoperative medical complications occurred in 52% of patients (67.3% severe). Major complications were mostly respiratory/pulmonary (66.7%), of which postoperative pneumonia (36.4%) was leading. Twenty-four percent of patients were ICU monitored. Mean length of ICU stay was 9 ± 6.6 days (1-20). Mean length of hospital stay was 15 ± 8.6 days (4-56). There was no in-hospital mortality, and 30-day mortality was 6%. Posterior fusion for tOF in patients 80 years or older seems to be a feasible treatment option in these high-risk patients. Despite a high incidence of severe comorbidities and perioperative complications, outcome was satisfactory. Our research was a retrospective cohort study, Level III.

Error rate of multi-level rapid prototyping trajectories for pedicle screw placement in lumbar and sacral spine

ObjectiveFree-hand pedicle screw placement has a high incidence of pedicle perforation which can be reduced with fluoroscopy, navigation or an alternative rapid prototyping drill guide template. In our study the error rate of multi-level templates for pedicle screw placement in lumbar and sacral regions was evaluated. MethodsA case series study was performed on 11 patients. Seventy-two screws were implanted using multilevel drill guide templates manufactured with selective laser sintering. According to the optimal screw direction preoperatively defined, an analysis of screw misplacement was performed. Displacement, deviation and screw length difference were measured. The learning curve was also estimated. ResultsTwelve screws (17%) were placed more than 3.125mm out of its optimal position in the centre of pedicle. The tip of the 16 screws (22%) was misplaced more than 6.25mm out of the predicted optimal position. According to our predefined goal, 19 screws (26%) were implanted inaccurately. In 10 cases the screw length was selected incorrectly: 1 (1%) screw was too long and 9 (13%) were too short. No clinical signs of neurovascular lesion were observed. Learning curve was insignificantly noticeable (P=0.129). ConclusionIn our study, the procedure of manufacturing and applying multi-level drill guide templates has a 26% chance of screw misplacement. However, that rate does not coincide with pedicle perforation incidence and neurovascular injury. These facts along with a comparison to compatible studies make it possible to summarize that multi-level templates are satisfactorily accurate and allow precise screw placement with a clinically irrelevant mistake factor. Therefore templates could potentially represent a useful tool for routine pedicle screw placement.

Minimally invasive medial hip approach

The medial approach to the hip via the adductors, as described by Ludloff or Ferguson, provides restricted visualization and incurs a risk of neurovascular lesion. We describe a minimally invasive medial hip approach providing broader exposure of extra- and intra-articular elements in a space free of neurovascular structures. With the lower limb in a “frog-leg” position, the skin incision follows the adductor longus for 6cm and then the aponeurosis is incised. A slide plane between all the adductors and the aponeurosis is easily released by blunt dissection, with no interposed neurovascular elements. This gives access to the lesser trochanter, psoas tendon and inferior sides of the femoral neck and head, anterior wall of the acetabulum and labrum. We report a series of 56 cases, with no major complications: this approach allows treatment of iliopsoas muscle lesions and resection or filling of benign tumors of the cervical region and enables intra-articular surgery (arthrolysis, resection of osteophytes or foreign bodies, labral suture).

Artroplastia total em quadris displásicos luxados com reconstrução acetabular e encurtamento femoral

To describe a new procedure of total hip replacement in patient with severe developmental dysplasia of the left hip, using technique of acetabular reconstruction with autogenous bone grafts and subtrochanteric shortening femoral osteotomy. Total hip replacement done in January of 2003. The Eftekhar's classification was used and included type D, neglected dislocations. Bone graft incorporated in acetabular shelf and femoral osteotomy. Our contribution is the use of an Allis plate to better fix acetabular grafts, avoiding loosening, and cerclage around bone graft in femoral osteotomy site, which diminish pseudoarthrosis risk. This technique shows efficiency, allowing immediately resolution for this case with pain and range of motion of hip improvement. It also allows the acetabular dysplasia reconstruction, equalization of the limb length (without elevated risk of neurovascular lesion) and repairs the normal hip biomechanics due to the correction of the hip's center of rotation.

Posterior trans-septum portal approach versus anterior approach for posterior cruciate ligament reconstruction

Objective To compare the posterior trans-septum portal approach and the anterior approach for anatomic single-bundle reconstruction of the posterior cruciate ligament (PCL).Methods We reviewed 60 patients who had undergone anatomic single-bundle reconstruction of PCL from January 2008 to January 2012.They were divided into 2 groups according to surgical approaches used.In the conventional group,28 patients received early PCL reconstruction via the anterior approach.They were 17 males and 11 females,with a mean age of 33.0 ± 9.4 years.In the trans-septum group,32 patients received late PCL reconstruction via the posterior trans-septum portal approach.They were 22 males and 10 females,with a mean age of 32.2 ± 8.0 years.The 2 groups were compared in terms of tibial tunnel site distance,KT-2000 value,posterior drawer test result,neurovascular lesion,and Lysholm knee function and IKDC (International Knee Documentation Committee) scores at the last follow-up.Results The conventional and the trans-septum groups were followed up for 15.9 ± 2.2 and 15.6 ± 2.0 months respectively,with no significant difference (P ＞ 0.05).The conventional group yielded significantly better results than the trans-septum group regarding tibial tunnel site distance,KT-2000 value,negative rate of posterior drawer test [90.6％ (29/32) versus 75.0％ (21/28)],Lysholm knee function and IKDC scores (90.9 ± 3.0 and 88.3 ± 3.5 points versus 87.8 ± 2.9 and 85.4 ± 3.7 points) (P ＜ 0.05).Two patients in the conventional group had neurovascular symptoms which responded to the treatment.Conclusion In the anatomic single-bundle reconstruction of PCL,the posterior trans-septum portal approach may result in better outcomes than the conventional anterior approach in terms of facilitating recovery of knee joint stability. Key words: Posterior cruciate ligament; Arthroscopy; Approach

Modified ilioinguinal approach for anterior wall fractures of the acetabulum

Objective To evaluate the modified ilioinguinal approach in the treatment of anterior acetabulum wall fractures.Methods From February 2004 to February 2011,12 patients with comminuted acetabular fracture were treated with modified ilioinguinal approach.They were 10 men and 2 women,26 to 60 years of age (mean,33.5 years).All the fractures were anterior acetabulum wall ones according to Letournel classification.The time from injury to surgery ranged from 1 to 15 days (mean,5.4 days).All the operations were conducted via the modified ilioinguinal approach.In 6 patients whose fragments of the anterior wall were relatively large,fixation was done with lag screws and a reconstruction plate; in another 6 patients who had severely comminuted fragments and were complicated with compression in 4,fixation was done with lag screws and a spring plate following leverage reduction and filling the defect with iliac bone.The outcomes were assessed at the last follow-up with improved Merle d'Aubigne and Postel evaluation system.Results The mean operation time and the mean blood loss during operation for the 12 patients was 100 minutes and 350 mL.The average follow-up time for the 12 patients was 1.8 years (range,1 to 5 years).By the Matta scoring,the postoperative reduction was rated as excellent in 9 and good in 3 cases.The fracture healing time averaged 15 weeks (from 11 to 18 weeks).By the Merle d'Aubigne and Postel system,the outcomes were excellent in 8 cases,good in 3 cases and fair in one.One case of heterotopic ossification (Brooker degree Ⅰ) was observed and one case of traumatic arthritis occurred 3 years after operation.No infection,implant failure,or neurovascular lesion was found.Conclusion The modified ilioinguinal approach is good for comminuted or impacted fractures of the anterior acetabulum wall,because it can better expose the anterior parts of the acetabulum and allow direct visualization of open reduction of the anterosuperior fractures of the hip joint. Key words: Acetabulum; Fractures, bone; Fracture fixation, internal; Bone plates; Surgical approach

Neurovascular lesion after total hip arthroplasty in congenital hip dysplasia: Case report

Nowadays, the total hip arthroplasty is a very frequent surgical intervention. In some cases, vascular and nerve injuries may happen around the hip with total hip arthroplasty. Although they are very rare, they may be very dangerous for the patient in some cases. This paper presents a case of a female patient, in whom the nervous fibularis lesion was detected after the total hip arthroplasty, and the occlusion of the iliac femoral artery was revealed later during physical therapy. We described a case of a 32-year-old female patient, in whom the nervous fibularis lesion was detected after the total hip arthroplasty. The patient was referred to a ward for physical therapy. On the 19th postoperative day, she felt a vigorous ache and numbness on the left operated leg during stimulation of the paretic fibular musculature. Clinically weak inguinal arterial pulse was detected. After the examination, iliac-femoral occlusion was diagnosed. The patient was referred to the vascular surgeon. In the next few months, she was treated conservatively and eventually underwent surgery. The revascularization was achieved with a satisfactory effect. A year after the total hip replacement, the patient continued with rehabilitation and physical treatment, which lasted one and a half month and had an incomplete functional result - the patient walked with a walking stick and had weak fibular musculature ofa severe degree. The vascular status of the leg was good. In this case, neurovascular lesions led to an incomplete functional recovery of the patient and compromised the expected treatment outcome. According to the scoring system used to assess the functionality, the result was marked as poor.

Posterior tibial tendoscopy: Description of an accessory proximal portal and assessment of tendon vascularization lesion according to portal

Posterior tibial tendoscopy was codified in 1997 by Van Dijck, who described a portal between 1.5 and 2cm proximally and distally to the tip of the medial malleolus. However, this approach does not allow proximal exploration of the posterior tibial tendon (PTT). We here describe an accessory portal 7cm proximal to the medial malleolus, enabling complete PTT exploration. Posterior tibial tendoscopy was performed on 12 cadaver specimens, mapping PTT exploration and vascularization. The accessory portal enabled the whole PTT to be explored, from the myotendinous junction to the entry into the retromalleolar groove. PTT observation quality was improved compared to using a submalleolar portal. Dissection confirmed systematic presence of a vincula on the posterior side of the tendon, connected to the flexor digitorum longus (FDL) tendon, containing collateral vessels of the posterior tibial artery. None of these elements were damaged by the tendoscopy as long and the scope and motorized instruments were not rotated on the posterior side of the supramalleolar part of the PTT. This accessory entry portal provides complete PTT exploration without the risk of neurovascular bundle lesion.

Adult Presentation of a Familial-Associated Vein of Galen Aneurysmal Malformation: Case Report

Vein of Galen aneurysmal malformations (VGAMs) arise from persistent arteriovenous shunting from primitive choroidal vessels into the median prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. VGAMs rarely present past infancy, and their natural history in adults is unknown. We report the first case of a familial-associated VGAM in an asymptomatic adult female patient. The clinical features of this case are presented alongside a systematic review of the literature on adult VGAM cases to assess the natural history, clinical management, and genetic basis of this rare neurovascular lesion. A previously healthy 44-year-old woman with a family history of a VGAM in a stillborn presented with an 8-week onset of dizziness and vertigo that spontaneously resolved. Time-resolved magnetic resonance angiography identified a choroidal VGAM. No intervention was undertaken at this time because of the patient's asymptomatic status after 9 months of follow-up. Based on our review of the literature, this is the first case report of a familial-associated VGAM in an adult patient and suggests that VGAM development can be genetically linked. Of 15 adult VGAM cases previously reported, all patients were either symptomatic or treated, thus precluding determination of VGAM natural history in adults. Patient outcomes correlated with the severity of presenting symptoms, which ranged from asymptomatic to immediately life-threatening. We hypothesize that self-selection may render VGAMs to be more benign for them to persist past childhood. Further investigation of the molecular biology underlying VGAM development is warranted.