Coexistence of neural tube defects and spinal arteriovenous shunts: a case series and review of literature.

BACKGROUND: Spinal arteriovenous shunts and spinal dysraphism both have a different underlying cause, disease spectrum and developmental process; hence, these entities rarely coexist in a patient. Here, we reported four cases of coexistence of adult-onset spinal arteriovenous shunt and spinal dysraphism in the same patient along with their therapeutic embolisation. Additionally, we conducted an extensive literature review to explore the potential theories and explanations for this coexistence. METHODS: We retrospectively searched our imaging database from January 2015 to December 2023 to identify instances of spinal arteriovenous shunts occurring in patients with spinal dysraphism or neural tube defect disorders. MRI and angiographic imaging, clinical presentation, treatment and follow-up were analysed. RESULTS: Four patients with arteriovenous fistula/shunt and spinal dysraphism were included in the study. The mean age of presentation was 35.5 years. The most common symptoms were sensory disturbance and motor weakness. Arteriovenous fistula or shunt was located at the lumber region in one patient and at the sacral region in three cases. Two patients have a prior history of surgery in first decade. Two patients were treated with glue embolisation. The internal iliac artery was a common feeder in all cases. CONCLUSIONS: The rare coexistence of neural tube defects with spinal vascular abnormalities should be considered when assessing a middle-aged patient with neural tube defect and myelopathy. Correct diagnosis can help in treatment planning and thereby improve prognosis.

Evaluation of KIAA1549::BRAF fusions and clinicopathological insights of pilocytic astrocytomas.

BACKGROUND: Pilocytic astrocytoma (PAs) represents a significant portion of childhood primary brain tumors, with distinct histological and radiological features. The prevalence of KIAA1549::BRAF fusion in PAs has been well-established, this study aims to assess the prevalence of KIAA1549::BRAF fusions and explore their associations with tumor characteristics, radiological findings, and patient outcomes in PAs. METHODS: Histologically confirmed cases of PAs from a 5-year period were included in the study. Demographic, histopathological, and radiological data were collected, and immunohistochemistry was performed to characterize tumor markers. FISH and qRT-PCR assays were employed to detect KIAA1549::BRAF fusions. Statistical analyses were conducted to examine associations between fusion status and various other parameters. RESULTS: Histological analysis revealed no significant differences in tumor features based on fusion status. However, younger age groups showed higher fusion prevalence. Radiologically, fusion-positive cases were distributed across different tumor subtypes SE, CWE and NCWE. Survival analysis did not demonstrate a significant impact of fusion status on overall survival, however most cases with recurrence and death harboured KIAA1549::BRAF fusion. Of 200 PAs, KIAA1549::BRAF fusions were detected in 64 % and 74 % of cases via qRT-PCR and FISH, respectively. Concordance between the two platforms was substantial (86 %). CONCLUSION: KIAA1549::BRAF fusions are prevalent in PAs and can be reliably detected using both FISH and qRT-PCR assays. Cost considerations suggest qRT-PCR as a more economical option for fusion detection in routine clinical practice.

Imaging Feature of Leukoencephalopathy with Calcifications and Cysts (Labrune Syndrome).

Labrune syndrome is an uncommon central nervous system disorder characterized by leukoencephalopathy, cerebral calcifications, and cysts on brain imaging. The basic pathology is microangiopathy resulting from a mutation in the SNORD118 gene. Radiological imaging is the hallmark of the disease.

Duplication of right vertebral artery in Klippel-Feil anomaly.

The duplicated origin of the vertebral artery (VA) is an uncommon anatomical variant, which is generally identified incidentally during angiography and can be misdiagnosed as dissection in the setting of posterior circulation stroke. Here, we describe a case of the right V1 VA duplication with embryological aspects in a patient with Klippel-Feil anomaly, which was diagnosed during preoperative evaluation. Surgeons must be aware to avoid vascular injury from a duplicated VA before head-neck and spinal surgery.

Reconstructive endovascular treatment of petrous ICA pseudoaneurysm in skull base osteomyelitis: a hidden catastrophe.

Skull base osteomyelitis can be more life-threatening in immunocompromised patients and patients with diabetes. Here, we present a case of a petrous internal carotid artery pseudoaneurysm resulting from skull base osteomyelitis in a diabetic male in his 50s. This case report highlights the need to be conscious of the various complications associated with skull base osteomyelitis, be proficient in detecting them and treat them as early as possible for better outcomes. After adequate control of the disease process with medical treatment, immediate management of the aneurysm with balloon angioplasty and stenting was done. Acknowledging the trivial nasal and ear bleed, radiological evaluation is necessary to rule out rare complications like pseudoaneurysms in a diagnosed case of skull base osteomyelitis. In the discussion, we have cited the various treatment methods and similar cases of pseudoaneurysm caused by osteomyelitis. Currently, the patient continues to live a disease and disability-free life.

Cortical malformation adjacent to a large pial arteriovenous fistula.

The coexistence of an arteriovenous fistula (AVF) and neuronal migration abnormalities is a rare phenomenon. The underlying pathophysiology responsible for these anomalies remains elusive. Neuronal architectural irregularities arise from complex neuronal formation, migration and organisation dysfunctions. Isolated cases of these associations are rarely described in the literature. Here, we present an unusual case involving the coexistence of a pial AVF and a pachygyria-polymicrogyria complex in an early childhood boy. We have provided a detailed description of the neuroimaging characteristics and the therapeutic embolisation in this case, along with follow-up. Additionally, we conduct a comprehensive review of potential hypotheses about the association, referencing prior case reports. The presence of an aberrant blood supply or deviant venous drainage from the developing cortex may contribute to a variety of neuronal migration anomalies.

Imaging and MR Spectroscopy in Papillary Craniopharyngioma.

Sellar-suprasellar masses exhibit a diverse range of differential diagnoses and it is feasible to establish a preliminary diagnosis before surgery by evaluating conventional CT scans and contrast-enhanced MRI results. Nevertheless, certain cases may present with inconclusive findings, making it challenging to anticipate the underlying tissue composition accurately through imaging alone. Researchers have explored the application of Proton MR spectroscopy in analyzing suprasellar tumors, and their investigations have revealed that it can complement traditional MRI by enhancing the accuracy of preoperative diagnoses. In this context, we report three biopsy-proven cases of suprasellar papillary craniopharyngioma where the MRS spectra derived from the solid component exhibited noticeable lipid peaks alongside reduced levels of choline and NAA. These findings played a pivotal role in facilitating the correct preoperative identification of papillary craniopharyngioma.

An Institutional Perspective on the Number of Stent Retriever Pass and Rate of Recanalization in Mechanical Thrombectomy for Acute Ischemic Stroke: When to Stop?

Background and purpose: Mechanical thrombectomy is the standard treatment modality for flow restoration in acute ischemic stroke. In cases of persistent occlusion, the optimal number of retrieval attempts before considering procedure termination is currently undetermined and is a topic for research. Therefore in this study, we studied the impact of the number of stent retrieval maneuvers on the recanalization of vessels. Methods: In this retrospective single-center observational study we included 52 patients with large vessel occlusion who underwent stent retriever mechanical thrombectomy. Successful recanalization rate was defined as modified TICI (Thrombolysis in Cerebral Infarction) 2b or 3. Result: The overall successful recanalization rate was 44.24%. The recanalization rate per stent retrieval attempt was the highest in 1st attempt (28.84%) and no recanalization was observed with the 3rd, 5th, and 6th attempts (p<0.001). At most 6 retrieval attempts were used. Conclusions: After two retrieval attempts, 91% of the patients were successfully recanalized and other after the 5th attempt could not result in recanalization.

Mechanical Thrombectomy in Medium Vessels Occlusion (MeVOs): An Institutional Experience with M2 Divisions of Middle Cerebral Artery.

Background: Mechanical thrombectomy has been established as a safe, standard and effective treatment option for occlusions of the proximal segment of the middle cerebral artery (MCA), as demonstrated in numerous studies. However, performing thrombectomy in the M2 divisions of MCA presents inherent challenges. In this institutional experience, we aim to delineate the recanalisation rates achieved through mechanical thrombectomy in cases involving the M2 segment of the MCA. Methods: We conducted a retrospective analysis of patients who underwent thrombectomy due to M2 MCA occlusions in the period from January 2018 to December 2021. Various factors affecting recanalisation rates were assessed. Results: A total of 15 patients with M2 segment occlusions of the middle cerebral artery were included in the study, comprising 11 in the superior division and 4 in the inferior division. The successful recanalisation rate was 72.33%, with notably higher success observed in cases of inferior division occlusion. The primary outcome of our study was the mTICI recanalisation status, categorised as successful recanalisation (mTICI = 2b or mTICI = 3) and unsuccessful recanalisation (mTICI = 1 or mTICI = 2a) and mRS at 6 months. None of the predictors assessed reached statistical significance. Conclusions: Mechanical thrombectomy demonstrates favourable efficacy and recanalisation rates in cases of M2 MCA division occlusion. Notably, inferior division occlusions exhibit a higher likelihood of successful recanalisation.

Nonbifurcating carotid artery-embryological scrutiny, intriguing associations, and review of literature.

Nonbifurcating carotid is quite a rare anatomical variant of carotid anatomy. The embryology of carotid development is more intricate and convoluted than is presently known. This case report finds an unusual case of a nonbifurcating carotid artery whose embryological basis cannot be explained by popular prevalent theories. It also stresses about an abundance of case reports from East Asia on this topic, to the best of the authors' knowledge. The formation of atherosclerotic plaque requires more than abnormal fluid hemodynamic, which has been briefly pointed out.