Search Results (13)

Body stalk anomaly (BSA) is a rare and usually fatal congenital disorder involving severe malformations of the body wall, limbs, spine, and internal organs. This study presents the first documented cases of BSA in seven dogs, offering new insights into how the disorder manifests in animals. The affected fetuses consistently exhibited major anomalies, including large abdominal wall defects, structural spinal abnormalities, and a variety of limb malformations ranging from partial agenesis and meromelia to phocomelia and complete amelia. Structural urogenital anomalies and orofacial clefts were also observed, aligning with similar findings in BSA cases reported in pigs and cats. These findings support the hypothesis of a multifactorial etiology involving early embryonic disruptions, such as abnormal folding of the embryo, rupture of the amniotic membrane, and vascular compromise. The frequent occurrence of abdominal wall defects alongside umbilical cord abnormalities further suggests a shared developmental pathway. This study also highlights the value of veterinary cases in comparative embryology and the need to assess congenital anomalies as part of a broader malformation complex. By expanding the phenotypic spectrum of BSA in domestic animals, this work contributes to a deeper understanding of its pathogenesis and emphasizes the importance of further research into the genetic and environmental factors involved. Such efforts could lead to improved classification and diagnosis of complex congenital malformations, as well as facilitate cross-species comparisons. Full article

Background and Clinical Significance: The coexistence of spinal hemangiomas and dural arteriovenous fistula (SDAVF) is uncommon. Unclear imaging and progressive neurological impairment require early surgical management. Case Presentation: A 76-year-old woman presented with progressive thoracolumbar pain and worsening bladder dysfunction. Magnetic resonance imaging (MRI) of the thoracic spine revealed a round-shape expansive lesion at T11 with spinal cord edema and homogeneous contrast enhancement. Despite a chronic presentation, the subacute progression of bladder dysfunction and spinal cord edema warranted timely intervention. Intraoperatively, a vascular malformation resembling a dural arteriovenous fistula (SDAVF), unrecognized at pre-operative imaging, was found in association, and histological examination confirmed the diagnosis of hemangioma. The mechanism of coexistence remains unclear, although venous hypertension due to fistula could induce vascular malformations. Conclusions: This case emphasizes the importance of thorough imaging, timely intervention and intraoperative assessment in patients presenting with a suspicion of spinal hemangioma; it may also provide awareness of potentially associated concurrent lesions such as SDAVFs, unrecognized at pre-operative imaging, and technical insights during surgery. Full article

Spinal dural arteriovenous fistulas (sDAVFs) are rather uncommon lesions of the spine. In sDAVFs, which represent the most frequent form of vascular malformations of the spine, operative treatment remains the most common treatment modality. In operative surgery, visualization and pathology detection have a key impact on the results of the neurosurgical treatment of an sDAVF. The exoscope is one of the most recent imaging devices developed alongside the microscope and endoscope. The exoscope is being increasingly applied in neurosurgical procedures as an alternative to operative microscopes due to various advantages, such as its non-space-occupying camera, excellent visualization of the anatomical details and the perfect teaching possibilities it thus provides. In this publication, we present our experience in the treatment of a patient with an sDAVF, where surgery was performed exclusively with an ORBEYE-exoscope for the entire duration of the procedure. This report outlines the workflow and some of the technical pitfalls involved in managing this vascular pathology using the exoscopic technique. Full article

Spinal dural arteriovenous fistula (SDAVF) is among the most common arterial shunt diseases typically found in middle aged or older men. Herein, we aimed to clarify the reasons for misdiagnoses and delayed diagnoses of SDAVF, determine how these affect prognoses, and establish how they can be prevented. We conducted a PubMed/MEDLINE literature search using “spinal dural arteriovenous fistula”, “delayed diagnosis”, “late diagnosis”, and “misdiagnosis” terms. We identified 18 articles, including 965 SDAVF cases. Patients were predominantly males (71.8–100.0%) (mean age: 53.5–71.0 years). Misdiagnoses rates varied (17.5–100.0%) and encompassed many conditions. The mean time between early manifestations and confirmed diagnosis was approximately 10–15 months and from the first radiologic image revealing dural arteriovenous fistula (DAVF) features to diagnosis was 9.2–20.7 months. Posttreatment outcomes showed a significant improvement in motor functions, gait, and micturition, particularly in patients exhibiting preoperative symptoms over a short period. SDAVF is frequently misdiagnosed or subject to delayed diagnosis, causing poor clinical outcomes. SDAVF symptoms including progressive lower-limb weakness, paresthesia, and vesicorectal dysfunction are indications for spinal magnetic resonance imaging with subsequent spinal angiography, wherein DAVF is evidenced by extensive T2 hyperintensity and flow-void abnormalities. We reported a representative case with delayed diagnosis. Full article

Background and Objectives: Cavernous malformations (CM) are vascular malformations with low blood flow. The removal of brainstem CMs (BS) is associated with high surgical morbidity, and there is no general consensus on when to treat deep-seated BS CMs. The aim of this study is to compare the surgical outcomes of a series of deep-seated BS CMs with the surgical outcomes of a series of superficially located BS CMs operated on at the Department of Neurosurgery, College of Tuebingen, Germany. Materials and Methods: A retrospective evaluation was performed using patient charts, surgical video recordings, and outpatient examinations. Factors were identified in which surgical intervention was performed in cases of BS CMs. Preoperative radiological examinations included MRI and diffusion tensor imaging (DTI). For deep-seated BS CMs, a voxel-based 3D neuronavigation system and electrophysiological mapping of the brainstem surface were used. Results: A total of 34 consecutive patients with primary superficial (n = 20/58.8%) and deep-seated (n = 14/41.2%) brainstem cavernomas (BS CM) were enrolled in this comparative study. Complete removal was achieved in 31 patients (91.2%). Deep-seated BS CMs: The mean diameter was 14.7 mm (range: 8.3 to 27.7 mm). All but one of these lesions were completely removed. The median follow-up time was 5.8 years. Two patients (5.9%) developed new neurologic deficits after surgery. Superficial BS CMs: The median diameter was 14.9 mm (range: 7.2 to 27.3 mm). All but two of the superficial BS CMs could be completely removed. New permanent neurologic deficits were observed in two patients (5.9%) after surgery. The median follow-up time in this group was 3.6 years. Conclusions: The treatment of BS CMs remains complex. However, the results of this study demonstrate that with less invasive posterior fossa approaches, brainstem mapping, and neuronavigation combined with the use of a blunt “spinal cord” dissection technique, deep-seated BS CMs can be completely removed in selected cases, with good functional outcomes comparable to those of superficial BS CM. Full article

The mitogen-activated protein kinase organizer 1 (MORG1) is a scaffold molecule for the ERK signaling pathway, but also binds to prolyl-hydroxylase 3 and modulates HIFα expression. To obtain further insight into the role of MORG1, knockout-mice were generated by homologous recombination. While Morg1+/− mice developed normally without any apparent phenotype, there were no live-born Morg1−/− knockout offspring, indicating embryonic lethality. The intrauterine death of Morg1−/− embryos is caused by a severe failure to develop brain and other neuronal structures such as the spinal cord and a failure of chorioallantoic fusion. On E8.5, Morg1−/− embryos showed severe underdevelopment and proliferative arrest as indicated by absence of Ki67 expression, impaired placental vascularization and altered phenotype of trophoblast giant cells. On E9.5, the malformed Morg1−/− embryos showed defective turning into the final fetal position and widespread apoptosis in many structures. In the subsequent days, apoptosis and decomposition of embryonic tissue progressed, accompanied by a massive infiltration of inflammatory cells. Developmental aberrancies were accompanied by altered expression of HIF-1/2α and VEGF-A and caspase-3 activation in embryos and extraembryonic tissues. In conclusion, the results suggest a multifactorial process that causes embryonic death in homozygous Morg1 mutant mice, described here, to the best of our knowledge, for the first time. Full article

Superficial siderosis of the central nervous system (SS-CNS) is a rare condition characterized by a hemosiderin accumulation along the subpial surfaces and arises from an intermittent chronic bleeding in the subarachnoid space usually as a result of a chronic subarachnoid hemorrhage by trauma, vascular malformations, CNS tumors, or cerebral amyloid angiopathy (CAA). We present a 61-year-old male with a 12-year history of limb weakness, muscle wasting, cramps, clumsiness, progressive unsteady gait, and fine motor impairments. His medical history included the resection of a left parietal meningioma and a myxopapillary ependymoma near the conus terminalis (L3/4) at the age of 51 years. The clinical examination revealed a motor neuron syndrome with a clear bilateral wasting of the hand muscles, a diffuse atrophy of the shoulder and calf muscles, and a weakness of the arms, fingers, hips, and feet. Deep tendon reflexes were symmetrically briskly hyperactive. Standing and walking were only possible with a support. Magnetic resonance imaging of the entire neuroaxis showed progressive severe cerebral, brainstem, and spinal superficial siderosis in form of extensive hypointensities on T2-weighted gradient-echo images and susceptibility-weighted sequences. Despite a successful neurosurgical removal of the tumors and delaed medical treatment with an iron chelator for one year, we observed no clinical recovery or stability in our patient, making this case unique, and suggesting an irreversible neurodegenerative process. This case reinforces the need of including SS-CNS in the list of amyotrophic lateral sclerosis (ALS)-mimics and demonstrates the fundamental use of a complete neuraxial MRI investigation on evaluating possible ALS cases. Full article

Spinal arteriovenous shunts (sAVSs) are an uncommon disease, constituting 3 to 4% of intradural lesions; 70% of these lesions are spinal arteriovenous fistulas (sAVFs), whereas spinal arteriovenous malformations (sAVMs) are rarer. Both share the problem of their classification due to the heterogeneity of their angioarchitecture. The aim of this study is to report a series of sAVSs treated in the neurosurgery department of the Hospital Nacional Guillermo Almenara during the 2018–2020 period and to present an overview of the current literature on sAVS classification. We reviewed all medical records of patients diagnosed with sAVFs and sAVMs during the 2018–2020 period, and then we analyzed images with Horos v4.0.0, illustrated some cases with Clip Studio Paint v1.10.5, and performed a descriptive statistical analysis with SPSS v25. Twelve patients were included in this study, eight of which were women (67%) and four of which were men (33%); the age range was from 3 to 74 years. Eight sAVSs were sAVFs, whereas four were sAVMs. The most frequent clinical manifestation was chronic myelopathy in seven patients (58%). Of those treated only by embolization, seven (70%) resulted in complete occlusion (five sAVFs and two sAVMs), while three (30%) remained with a residual lesion. At last follow-up, five patients (42%) improved clinically, and the seven remaining (58%) maintained the same neurological state. sAVSs require a detailed study of their angioarchitecture for proper management. The endovascular treatment is safe with acceptable cure rates. The surgical option should not be set aside. Full article

Cavernomas are rare cerebrovascular malformations that usually occur in sporadic forms with solitary lesions located most often in the hemispheric white matter, but also in the infratentorial or spinal region. Multiple lesions at different CNS levels are considered a hallmark for the familial form of the disease. The diagnostic modality of choice for cerebral cavernous malformations (CCMs) is magnetic resonance imaging (MRI). We present an intriguing case of a 65-year-old male admitted to our hospital with tetraparesis and cognitive impairment where highly sensitive MRI sequences identified many cerebral cavernous lesions at the supra-, infratentorial and cervical–thoracic spine levels, some of them with recent signs of bleeding in a patient with oral anticoagulant therapy due to atrial fibrillation. The mechanism of cognitive impairment in this patient is most probably the interruption of strategic white matter tracts, as it is known to happen in other subcortical vascular pathologies. MRI can be helpful not only in mapping the anatomical distribution of lesions, but also in weighing the risks and making decisions regarding whether or not to continue oral anticoagulant therapy. Full article

Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of multiple lesions throughout the patient’s life. Three genes associated with CCM are known: CCM1/KRIT1 (krev interaction trapped 1), CCM2/MGC4607 (encoding a protein named malcavernin), and CCM3/PDCD10 (programmed cell death 10). All the mutations identified in these genes cause a loss of function and compromise the protein functions needed for maintaining the vascular barrier integrity. Loss of function of CCM proteins causes molecular disorganization and dysfunction of endothelial adherens junctions. In this review, we provide an overall vision of the CCM pathology, starting with the genetic bases of the disease, describing the role of the proteins, until we reach the cellular level. Thus, we summarize the genetics of CCM, providing a description of CCM genes and mutation features, provided an updated knowledge of the CCM protein structure and function, and discuss the molecular mechanisms through which CCM proteins may act within endothelial cells, particularly in endothelial barrier maintenance/regulation and in cellular signaling. Full article

We report on the case of two toddlers who presented in the last 2 years with heart and vascular murmur, respectively, and in whom the diagnosis of paraspinal arterio-venous fistula was made. Paraspinal arterio-venous fistulae in children are extremely rare congenital or post-traumatic vascular malformations. In the rare case of connection with the spinal venous system, they might affect spinal vascularization due to potential venous congestion. Interventional embolization rather than surgery is the treatment of choice for such lesions. Up to now, there is no consensus about the indication of prophylactic closure of asymptomatic fistulae. However, close clinical follow-up with repeated spinal magnetic resonance imaging to exclude venous congestion is mandatory for young asymptomatic patients until treatment. Full article

Intraspinal hemorrhage is very rare and intramedullary hemorrhage, also called hematomyelia, is the rarest form of intraspinal hemorrhage, usually related to trauma. Spinal vascular malformations such intradural arteriovenous malformations are the most common cause of atraumatic hematomyelia. Other considerations include warfarin or heparin anticoagulation, bleeding disorders, spinal cord tumors. Radiation-induced hematomyelia of the cord is exceedingly rare with only one case in literature to date. We report the case of an 8 year old girl with Ewing’s sarcoma of the thoracic vertebra, under radiation therapy, presenting with hematomyelia. We describe the clinical course, the findings on imaging studies and the available information in the literature. Recognition of the clinical pattern of spinal cord injury should lead clinicians to perform imaging studies to evaluate for compressive etiologies. Full article

Spinal dural arteriovenous fistula (SDAVF) is a rare vascular malformation of the spine. Only a limited number of cases of SDAVF have been reported in the current literature. We describe the case of a 74 year old male who presented with gradually progressive bilateral lower extremity weakness and bladder dysfunction and was subsequently diagnosed with SDAVF affecting both the thoracic and lumbar spine. The patient later underwent embolization with some improvement in his neurologic symptoms. Full article