Newly recognized orbital malformations in kabuki syndrome: A case report.

Kabuki syndrome (KS) is a rare congenital disorder with distinctive characteristics. Herein, we describe a KS patient carrying a novel mutation in the KMT2D gene, c.11785C > T (p.Gln3929*). The patient presented with typical eyelid deformities, including eversion of the lateral lower eyelids, long palpebral fissures, hypertelorism, and medial epicanthus. Orbital computed tomography revealed orbital bone malformation with temporally and inferiorly displaced zygomatic bone. The bilateral orbits were shallow with an enlarged angle between the lateral walls. Zygomatic and maxillary bone dysplasia were also observed. Orbital bone anomalies are thought to be one of the characteristics of KS.

Multiparametric prenatal imaging characterization of fetal brain edema in Chiari II malformation might help to select candidates for fetal surgery.

OBJECTIVE: To identify brain edema in fetuses with Chiari II malformation using a multiparametric approach including structural T2-weighted, diffusion tensor imaging (DTI) metrics, and MRI-based radiomics. METHODS: A single-center retrospective review of MRI scans obtained in fetuses with Chiari II was performed. Brain edema cases were radiologically identified using the following MR criteria: brain parenchymal T2 prolongation, blurring of lamination, and effacement of external CSF spaces. Fractional anisotropy (FA) values were calculated from regions of interest (ROI), including hemispheric parenchyma, internal capsule, and corticospinal tract, and compared group-wise. After 1:1 age matching and manual single-slice 2D segmentation of the fetal brain parenchyma using ITK-Snap, radiomics features were extracted using pyradiomics. Areas under the curve (AUCs) of the features regarding discriminating subgroups were calculated. RESULTS: Ninety-one fetuses with Chiari II underwent a total of 101 MRI scans at a median gestational age of 24.4 weeks and were included. Fifty scans were visually classified as Chiari II with brain edema group and showed significantly reduced external CSF spaces compared to the nonedema group (9.8 vs. 18.3 mm, p < 0.001). FA values of all used ROIs were elevated in the edema group (p < 0.001 for all ROIs). The 10 most important radiomics features showed an AUC of 0.81 (95%CI: 0.71, 0.91) for discriminating between Chiari II fetuses with and without edema. CONCLUSIONS: Brain edema in fetuses with Chiari II is common and radiologically detectable on T2-weighted fetal MRI sequences, and DTI-based FA values and radiomics features provide further evidence of microstructure differences between subgroups with and without edema. CLINICAL RELEVANCE STATEMENT: A more severe phenotype of fetuses with Chiari II malformation is characterized by prenatal brain edema and more postnatal clinical morbidity and disability. Fetal brain edema is a promising prenatal MR imaging biomarker candidate for optimizing the risk-benefit evaluation of selection for fetal surgery. KEY POINTS: Brain edema of fetuses prenatally diagnosed with Chiari II malformation is a common, so far unknown, association. DTI metrics and radiomics confirm microstructural differences between the brains of Chiari II fetuses with and without edema. Fetal brain edema may explain worse motor outcomes in this Chiari II subgroup, who may substantially benefit from fetal surgery.

Recurrent thunderclap headache after endovascular embolization of pial AV malformation by onyx material.

Thunderclap headache is a sudden severe headache with onset to peak within one minute. Multiple excruciating, short-lived thunderclap headaches over a few days to weeks are highly suggestive of reversible cerebral vasoconstriction syndrome (RCVS). RCVS can be primary or secondary to several factors, but it is rarely described after neuro-endovascular procedures using onyx material. A 10-year-old child presented with RCVS heralded by recurrent thunderclap headache following endovascular embolization of pial arteriovenous malformation with onyx material (contains organic solvent dimethyl sulfoxide). Dimethyl sulfoxide is an angiotoxic material that can cause dysregulation of cerebral vascular tone triggering reversible cerebral vasoconstriction syndrome. Recurrent thunderclap headache after embolization procedures using onyx material should prompt for the diagnosis of reversible cerebral vasoconstriction syndrome.

Epileptic Seizures in a Pediatric Patient With Vein of Galen Aneurysmal Malformation and Obstructive Hydrocephalus: A Rare Case Report.

The vein of Galen aneurysmal malformation (VGAM) is a rare congenital arteriovenous fistula of the embryonic median prosencephalic vein of Markowski, resulting in its pathological dilation. If left untreated, it can lead to multiple severe complications in the neonatal period, among which obstructive hydrocephalus. We present a case report of a six-year-old male patient with severe status epilepticus and a clinical history of VGAM and obstructive hydrocephalus, diagnosed via an MRI and an MR-angiography. The hydrocephalus was treated via a ventriculostomy at the age of six months, while the VGAM underwent a partial transarterial endovascular embolization when the patient was four years old. The procedures were successful, and there were no significant post-operative complications observed. The epileptic seizures began at a later point and were successfully medicated with valproate. However, they resumed due to a lowering of the medication dosage by the patient's parents. The patient was given a new valproic acid regimen with an appropriate dosage, and his parents reported no further seizures. This case report emphasizes the use of appropriate prenatal and neonatal diagnostic methods for VGAM and explores the nature of the multi-procedural therapy approach towards the pathology and its complications in relation to a possibly idiopathic co-pathology, namely epilepsy.

Microsurgical removal of supratentorial and cerebellar cavernous malformations: what has changed? A single institution experience.

BACKGROUND: Features associated with a safe surgical resection of cerebral cavernous malformations (CMs) are still not clear and what is needed to achieve this target has not been defined yet. METHODS: Clinical presentation, radiological features and anatomical locations were assessed for patients operated on from January 2008 to January 2018 for supratentorial and cerebellar cavernomas. Supratentorial CMs were divided into 3 subgroups (non-critical vs. superficial critical vs. deep critical). The clinical outcome was assessed through modified Rankin Scale (mRS) and was divided into favorable (mRS 0-1) and unfavorable (mRS ≥ 2). Post-operative epilepsy was classified according to the Maraire Scale. RESULTS: A total of 144 were considered eligible for the current study. At 6 months follow-up the clinical outcome was excellent for patients with cerebellar or lobar CMs in non-critical areas (mRS ≤ 1: 91.1 %) and for patients with superficial CMs in critical areas (mRS ≤ 1: 92.3 %). Patients with deep-seated suprantentorial CMs showed a favorable outcome in 76.9 %. As for epilepsy 58.5 % of patients presenting with a history of epilepsy were free from seizures and without therapy (Maraire grade I) at last follow-up (mean 3.9 years) and an additional 41.5 % had complete control of seizures with therapy (Maraire grade II). CONCLUSIONS: Surgery is safe in the management of CMs in non-critical but also in critical supratentorial locations, with a caveat for deep structures such as the insula, the basal ganglia and the thalamus/hypothalamus.

Congenital pulmonary malformations.

There are many congenital anomalies of the lung, some of which have no clinical symptoms and are detected incidentally, while others, particularly in the neonatal and infant period, are recognized by their typical signs, symptoms, and radiological appearance. Some congenital lung anomalies are so important that they can cause the death of the patient if not diagnosed and treated early. Classification of congenital lung anomalies is difficult since these anomalies may be related to the airway, arterial and venous vascular system, pulmonary parenchyma, and primitive anterior intestinal anomalies from which the lung originates, and some anomalies may have several etiologic origins. In this review, all subgroups of congenital pulmonary malformations will be discussed.

Volumetric segmentation in the context of posterior fossa-related pathologies: a systematic review.

BACKGROUND: Segmentation tools continue to advance, evolving from manual contouring to deep learning. Researchers have utilized segmentation to study a myriad of posterior fossa-related conditions, such as Chiari malformation, trigeminal neuralgia, post-operative pediatric cerebellar mutism syndrome, and Crouzon syndrome. Herein, we present a summary of the current literature on segmentation of the posterior fossa. The review highlights the various segmentation techniques, and their respective strengths and weaknesses, employed along with objectives and outcomes of the various studies reported in the literature. METHODS: A literature search was conducted in PubMed, Embase, Cochrane, and Web of Science up to November 2023 for articles on segmentation techniques of posterior fossa. The two senior authors searched through databases based on the keywords of the article separately and then enrolled joint articles that met the inclusion and exclusion criteria. RESULTS: The initial search identified 2205 articles. After applying inclusion and exclusion criteria, 77 articles were selected for full-text review after screening of titles/abstracts. 52 articles were ultimately included in the review. Segmentation techniques included manual, semi-automated, and fully automated (atlas-based, convolutional neural networks). The most common pathology investigated was Chiari malformation. CONCLUSIONS: Various forms of segmentation techniques have been used to assess posterior fossa volumes/pathologies and each has its advantages and disadvantages. We discuss these nuances and summarize the current state of literature in the context of posterior fossa-associated pathologies.

Spinal lymphangiomas: Case-based review of a chameleonic disease entity.

Purpose: Lymphangiomas are benign hamartomas in the spectrum of lymphatic malformations, exhibiting multifaceted clinical features. Spinal involvement is exceedingly rare, with only 35 cases reported to date. Both due to their rarity and chameleonic radiologic features, spinal lymphangiomas (SLs) are usually misdiagnosed; postoperatively, surgeons are thus confronted with an unexpected histopathological diagnosis with sparse pertinent literature and no treatment guidelines available. Methods: Here, we report the case of a 67-year-old female who underwent surgery for a T6-T7 epidural SL with transforaminal extension, manifesting with spastic paraparesis. Then, we present the results of the first systematic review of the literature on this subject, delineating the clinical and imaging features and the therapeutic implications of this rare disease entity. Results: Our patient was treated with T6-T7 hemilaminectomy and resection of the epidural mass, with complete recovery of her neurological picture. No recurrence was evident at 18 months. In the literature, 35 cases of SL were reported that can be classified as vertebral SL (n = 18), epidural SL (n = 10), intradural SL (n = 3), or intrathoracic lymphangiomas with secondary spinal involvement (n = 4). Specific treatment strategies (both surgical and nonsurgical) were adopted in relation to each of these categories. Conclusion: Gathering knowledge about SL is fundamental to promote both correct preoperative identification and appropriate perioperative management of this rare disease entity. By reviewing the literature and discussing an exemplary case, we delineate a framework that can guide surgeons facing such an unfamiliar diagnosis.

Immediate postoperative resolution of syrinx post-C1/C2 fixation in an operated case of foramen magnum decompression for Chiari malformation: Is Goel's procedure a rescue surgery or a gold standard?

Chiari malformation (CM) is a common neurological disorder with foramen magnum decompression (FMD) as a commonly accepted treatment. The authors present a case of CM-1 wherein there was no radiological instability preoperatively and FMD was done as a treatment, after which the patient improved transiently only to deteriorate further. Atlantoaxial fixation was done as a second-stage procedure, after which the patient improved clinically and radiologically. The knowledge of this case and surgical entity should be borne in mind before the formulation of a treatment plan. It is important that the solution is to identify and treat the underlying pathology rather than to decompress and directly manipulate the tonsils.

Diffuse subarachnoid hemorrhage following ventriculo-peritoneal shunt insertion for acute obstructive hydrocephalus from large glomus jugulare tumor: case report.

Background: Glomus jugulare tumors (GJTs) are rare intra-cranial tumors. Commonly, these lesions present with cranial nerve palsies, headaches, and hydrocephalus. Rarely, GJTs present with spontaneous subarachnoid hemorrhage. However, there has never been a report of diffuse subarachnoid hemorrhage following ventriculoperitoneal shunt insertion in a patient who developed hydrocephalus secondary to any brain tumor in general or glomus jugulare tumors in particular. Observation: The authors presented an extremely rare complication of diffuse subarachnoid hemorrhage following the insertion of a ventriculoperitoneal shunt (VPS) in a 61-year-old female patient who was diagnosed to have both clinical and radiologic features of acute obstructive hydrocephalus secondary to a highly vascular huge glomus jugulare tumor. Conclusion: Subarachnoid hemorrhage following ventriculoperitoneal shunt insertion for hydrocephalus caused by a mass lesion is an extremely rare complication. Preoperative CT angiography should be strongly considered to look for the associated vascular malformations in extremely vascularized mass lesions. Given the not ubiquitous availability of all therapeutic options for GJTs, especially in low and middle income settings contributes for the poor outcome of GJTs and it fosters a global neurosurgery agenda.

Gross hematuria: Renal cell carcinoma mimicking a renal arteriovenous malformation.

The differential diagnosis between renal arteriovenous malformations (AVM) and cancer may be a challenge, due to the similar clinical and imaging findings. Herein, we report the case of an 80-year-old male patient presenting gross hematuria, initially diagnosed and treated with embolization for a renal AVM. Due to the recurrence of hematuria and rapid progression and changes of the vascular lesion with detection also of an intralesional solid nodule, a radical nephrectomy was performed revealing the presence of a renal cell carcinoma (RCC). Renal cell carcinoma and renal AVM can be difficult to differentiate from one another, for this reason a short-term follow-up should be carried out in patients diagnosed and treated for renal AVM to confirm the resolution of AVM or to assess any changes, such as atypical neovascularization or intralesional renal masses, which may increase the suspect of a hidden renal tumor.

Bladder duplication in a patient with a persistent urogenital sinus: Case report and systematic review of the literature.

Bladder duplication (BD) is a rare malformation that is often associated to other anomalies. We report a newborn diagnosed with BD in the sagittal plane, associated to persistent urogenital sinus (UGS), given the opening of the vagina immediately below the bladder neck. It is the fourth time this association is reported. Surgical repair was made: both bladders were joined, the common channel was left as urethra and the vagina was descended with a vaginoplasty with an intestinal segment. She also presented an anterior anus, that required posterior mobilization. The patient is currently 3 years old with good sphincter control.

Sublethal Effects of Spirotetramat, Cyantraniliprole, and Pymetrozine on Aphis gossypii (Hemiptera: Aphididae).

The toxicity and sublethal effects of three insecticides (spirotetramat, cyantraniliprole, and pymetrozine) on Aphis gossypii, a major agricultural pest, were investigated. The nymphal stage showed greater susceptibility than the adult stage to all the insecticides, with a difference of up to 8.9 times at the LC50 of spirotetramat. The effects of sublethal concentrations (LC10, LC30, LC50, and LC70) of the insecticides on the on the developmental period, survival rate, adult longevity, fecundity, and deformity rate were compared with those of the control. Compared with the control, cyantraniliprole and pymetrozine did not significantly affect the developmental period in the parental or F1 generation when applied at the nymphal stage at any concentration. Nonviable nymphs occurred in the F1 generation when both nymphs and adults were treated with spirotetramat and cyantraniliprole but not in the F2 generation. The age-specific maternity (lxmx) of A. gossypii treated with sublethal concentrations (LC10, LC30) decreased with increasing concentration. Spirotetramat at the LC30 resulted in significant differences in all life table parameters (R0, rm, λ, T, DT) compared with those of the control. Similarly, compared with that of the control (43.8), the net reproductive rate (R0) significantly decreased for all the insecticides except cyantraniliprole at the LC10 (37.5). Therefore, this study indicated that sublethal concentrations (over the LC30) of spirotetramat, cyantraniliprole, or pymetrozine might be useful for the density management of A. gossypii.

Enhancing the quality of evidence, comparability, and reproducibility in brain arteriovenous malformations treated with open surgery research: a systematic review and proposal of a reporting guideline for surgical and clinical outcomes.

Brain Arteriovenous Malformations (bAVMs) are rare but high-risk developmental anomalies of the vascular system. Microsurgery through craniotomy is believed to be the mainstay standard treatment for many grades of bAVMs. However, a significant challenge emerges in the existing body of clinical studies on open surgery for bAVMs: the lack of reproducibility and comparability. This study aims to assess the quality of studies reporting clinical and surgical outcomes for bAVMs treated by open surgery and develop a reporting guideline checklist focusing on essential elements to ensure comparability and reproducibility. This is a systematic literature review that followed the PRISMA guidelines with the search in Medline, Embase, and Web of Science databases, for studies published between January 1, 2018, and December 1, 2023. Included studies were scrutinized focusing on seven domains: (1) Assessment of How Studies Reported on the Baseline Characteristics of the Patient Sample; (2) Assessment and reporting on bAVMs grading, anatomical characteristics, and radiological aspects; (3) Angioarchitecture Assessment and Reporting; (4) Reporting on Pivotal Concepts Definitions; (5) Reporting on Neurosurgeon(s) and Staff Characteristics; (6) Reporting on Surgical Details; (7) Assessing and Reporting Clinical and Surgical Outcomes and AEs. A total of 47 studies comprising 5,884 patients were included. The scrutiny of the studies identified that the current literature in bAVM open surgery is deficient in many aspects, ranging from fundamental pieces of information of methodology to baseline characteristics of included patients and data reporting. Included studies demonstrated a lack of reproducibility that hinders building cumulative evidence. A bAVM Open Surgery Reporting Guideline with 65 items distributed across eight domains was developed and is proposed in this study aiming to address these shortcomings. This systematic review identified that the available literature regarding microsurgery for bAVM treatment, particularly in studies reporting clinical and surgical outcomes, lacks rigorous scientific methodology and quality in reporting. The proposed bAVM Open Surgery Reporting Guideline covers all essential aspects and is a potential solution to address these shortcomings and increase transparency, comparability, and reproducibility in this scenario. This proposal aims to advance the level of evidence and enhance knowledge regarding the Open Surgery treatment for bAVMs.

Photodynamic Effect of Vascular-targeted Polyphenol Nanoparticles on Endothelial Cells.

BACKGROUND: Port wine stains (PWS) are vascular malformations, and photodynamic therapy (PDT) is a promising treatment. Emerging drug delivery method employs nanoparticles (NPs) to enhance drug permeability and retention in diseased blood vessels and improving drug bioavailability. (-) -epigallocatechin-3-gallate glycine (EGCG) has anti-angiogenetic effects and boosts photodynamic therapy. Chlorin e6 (Ce6) is capable of efficiently producing singlet oxygen, rendering it a very promising photosensitizer for utilization in nanomedicine. MATERIAL AND METHODS: EGCG-Ce6-NPs were synthesized and characterized using various techniques. The photodynamic effects of EGCG-Ce6-NPs on endothelial cells were evaluated. The compatibility and toxicity of the nanoparticle was tested using the CCK-8 assay. The intracellular uptake of the nanoparticle was observed using an inverted fluorescence microscope, and the intracellular fluorescence intensity was detected using flow cytometry. The ROS generation and apoptosis induced by EGCG-Ce6-NPs was observed using confocal laser scanning microscope and flow cytometry respectively. RESULTS: EGCG-Ce6-NPs exhibited stability, spherical shape of uniform size while reducing the particle diameter, low polydisperse profile and retaining the ability to effectively generate singlet oxygen. These characteristics suggest promising potential for enhancing drug permeability and retention. Additionally, EGCG-Ce6-NPs demonstrated good compatibility with endothelial cells and enhanced intracellular uptake of Chlorin e6. Furthermore, EGCG-Ce6-NPs increased activation efficiency, induced significant toxicity, more reactive oxygen species, and higher rate of late apoptosis after laser irradiation. CONCLUSION: This in vitro study showed the potentials EGCG-Ce6-NPs for the destruction of endothelial cells in vasculature.

Dural sinus malformation presenting with proptosis: report and review of a rare entity.

Dural sinus malformation (DSM) is a rare vascular malformation characterized by the dilatation of a dural venous sinus with or without an anomalous jugular bulb. Its presentation with venous-reflux-related secondary proptosis is anecdotal, with only six such cases reported so far. We report a 17-month-old boy who presented with a progressive proptosis of the right eye secondary to a DSM of the transverse sinus and torcula. Following endovascular embolization of the arterio-venous fistula, complete thrombosis of the venous lake and improvement in proptosis was noted at 6-month follow-up. Prognosis of this rare malformation is variable and dependent on specific angio-architectural features.

Pancreatic Arteriovenous Malformations: A Case From Saudi Arabia.

Arteriovenous malformation (AVM) of the gastrointestinal tract is a rare anomaly, mostly due to congenital reasons. Patients with pancreatic AVM can live without experiencing symptoms. It can present with gastrointestinal bleeding or portal hypertension, and diagnosis can be made by computed tomography (CT) or angiography. CT findings include multiple discrete intrapancreatic vessels. A 48-year-old man complained of abdominal pain with a sensation of fullness that radiated to the back for a month, associated with shortness of breath, loss of appetite, and unintentional weight loss of 33% in one month without nausea or vomiting. On physical examination, the abdomen was soft and lax with epigastric tenderness and a negative Murphy sign. Laboratory investigations showed high amylase with normal liver and kidney functions. CT showed pancreatic AVM. He underwent partial pancreatectomy and splenectomy. After the surgery, the patient reported an improvement in symptoms. All follow-up visits were uneventful. Pancreatic AVM is a rare disease, and the most significant chief complaint of most patients is gastrointestinal tract bleeding. It requires imaging depending on the signs and symptoms. The primary imaging modality is CT, with subtraction angiography for confirmation. Surgical treatment is the standard of management for most patients when tolerable. Additionally, early detection of these rare anomalies can avoid massive gastrointestinal tract bleeding and the development of resistance portal hypertension and can save patients' lives if bleeding occurs.

Revealing an Uncommon Presentation of Chiari I Malformation With Diverse Craniovertebral Anomalies in the Absence of Syringomyelia and Atlanto-Occipital Subluxation: A Case Report.

A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various other craniovertebral junction abnormalities, albeit less frequently with Klippel-Feil syndrome. Interestingly, the majority of individuals with Chiari I malformation do not exhibit any symptoms. We present a rare case of a 25-year-old male with chronic neck and occipital pain, along with progressive weakness and sensory disturbances in all four limbs, urinary urgency, and elevated left shoulder. Examination unveiled spasticity, weakness, and brisk reflexes. On extensive radiological evaluation (X-ray, CT, and MRI), findings revealed various anomalies in the craniovertebral junction, including complete atlanto-occipital assimilation, basilar invagination, and platybasia. Furthermore, cervical segmentation abnormalities indicative of Klippel-Feil syndrome were observed, along with Sprengel's deformity. MRI confirmed Chiari I malformation with tonsillar herniation and myelomalacia, as well as compression at the cervico-medullary junction. This patient underwent a surgical procedure that included transoral odontoidectomy combined with occipito-cervical fixation, after which a good clinical response was observed. It emphasizes the necessity of radiological imaging for the diagnosis of Chiari and other associated abnormalities in the craniovertebral junction.