The patient, a 20-day-old male, was admitted due to respiratory distress that had persisted for 20 days after birth. The main clinical manifestations included gradually worsening respiratory distress and edema. The patient received treatment including mechanical ventilation and diuretics. Echocardiography indicated cardiomegaly, pulmonary hypertension, and heart failure. A comprehensive systemic examination revealed a significant blowing vascular murmur upon auscultation over the anterior fontanelle and bilateral temporal regions. Further imaging studies including cranial magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance venography showed marked dilation of the superior sagittal sinus, transverse sinus, and sigmoid sinus, leading to a definitive diagnosis of dural arteriovenous fistula. After a multidisciplinary consultation, the patient underwent cerebral angiography and partial embolization of the left parietal arteriovenous fistula. Postoperatively, the patient was treated with positive inotropes, diuretics, and fluid restriction. Ultimately, the patient was weaned off the ventilator and discharged in improved condition. This article reports a case of neonatal dural arteriovenous fistula presenting with respiratory distress and discusses the multidisciplinary approach to managing this condition, which aids in early disease recognition and guides clinical decision-making.
Humans ; Male ; Infant, Newborn ; Central Nervous System Vascular Malformations/diagnosis* ; Respiratory Distress Syndrome, Newborn/etiology* ; Embolization, Therapeutic

OBJECTIVES: Digital subtraction angiography (DSA) is the current gold standard for diagnosing spinal dural arteriovenous fistulas (SDAVF). However, DSA is invasive and associated with risks such as ionizing radiation and iodine contrast allergy. Contrast-enhanced magnetic resonance angiography (CE-MRA) with high temporal/high spatial resolution allows dynamic multiphase contrast-enhanced imaging with excellent detail. This study aims to evaluate the diagnostic value of spinal CE-MRA with high temporal/high spatial resolution for SDAVF. METHODS: Clinical data were retrospectively collected from patients who underwent both conventional spinal MRI and high temporal/high spatial resolution CE-MRA at Xiangya Hospital between January 1, 2021, and January 1, 2024, and who subsequently underwent DSA or surgery within 90 days. Two experienced radiologists independently reviewed all conventional MRI and CE-MRA images. The sensitivity and specificity of conventional MRI and CE-MRA for diagnosing SDAVF were calculated against the gold standard DSA findings. Kappa statistics were used to evaluate the consistency of MRI and CE-MRA compared to DSA. The diagnostic value was further assessed by calculating the area under curve (AUC) of the receiver operating characteristic (ROC). RESULTS: A total of 60 patients were included, of whom 47 were diagnosed with SDAVF and 13 were not. Conventional MRI had 3 false negatives and 1 false positive; CE-MRA had 2 false positives and 0 false negative. The sensitivity and specificity of conventional MRI were 93.62% and 92.31%, respectively. CE-MRA demonstrated 100% sensitivity and 84.62% specificity. The main cause of false positives was the misidentification of posterior spinal arteries as feeding arteries. CE-MRA clearly displayed most feeding arteries, and the accuracy of fistula localization was 74.47% (35/47). Kappa values for conventional MRI and CE-MRA were 0.814 and 0.896, respectively (both P<0.001), indicating good agreement, with CE-MRA outperforming conventional MRI. The AUCs for diagnosing SDAVF were 0.930 for conventional MRI and 0.923 for CE-MRA (both P<0.05). CONCLUSIONS Spinal CE-MRA with high temporal/high spatial resolution is a reliable, non-invasive imaging technique with high sensitivity for diagnosing SDAVF. It can clearly visualize feeding arteries and provides valuable preoperative diagnostic and localization information to support DSA or surgical planning.
Humans ; Central Nervous System Vascular Malformations/diagnosis* ; Male ; Female ; Retrospective Studies ; Middle Aged ; Magnetic Resonance Angiography/methods* ; Angiography, Digital Subtraction/methods* ; Aged ; Adult ; Sensitivity and Specificity ; Contrast Media ; Magnetic Resonance Imaging/methods*

Objective: To analyze and compare the efficacy and safety of pingyangmycin fibrin glue composite (PFG) and pingyangmycin dexamethasone composite (PD) in the treatment of pharyngolaryngeal venous malformation (VM). Methods: The clinical data of 98 patients with pharyngolaryngeal VM who underwent sclerotherapy with pingyangmycin composite in the First Affiliated Hospital of Sun Yat-sen University from June 2013 to November 2022 were retrospectively analyzed. According to their treatment, patients were divided into PFG group (n=34) and PD group (n=64), among those patients there were 54 males and 44 females, aged 1-77(37.06±18.86)years. The lesion size, total treatment times and adverse events were recorded before and after treatment. And the efficacy was divided into three grades: recovery, effective and invalid. According to the length of VM, all patients were divided into three subgroups, to compare the differences in efficacy and treatment times between each two groups.And finally the adverse events and their treatments were analyzed. SPSS 25.0 software was used for statistical analysis. Results: The efficacy of PFG group was 94.11%(32/34), the recovery rate was 85.29%(29/34).And the efficacy of PD group was 93.75%(60/64), the recovery rate was 64.06%(41/64). No serious adverse eventst occurred in subgroup comparison, there was no statistical difference between the two groups in efficacy and the times of treatments when the length was≤3 cm (Z_efficacy=1.04, t_{treatment times}=2.18, P>0.05); when the length was 3-5 cm, there was no significant efficacy difference between the two groups(Z_efficacy=1.17, P>0.05), but the treatment times of PFG were less (t_{treatment times}=4.87, P<0.01); when the length≥5 cm, efficacy of PFG was significantly better than PD (Z_efficacy=2.94, P<0.01), and had fewer treatments times (t_{treatment times}=2.16, P<0.01). There were no serious adverse events in either group during treatment and follow-up. Conclusion: Both PFG and PD are safe and effective composite sclerotherapy agent for the treatment of laryngeal VM, but PFG has a higher cure rate and fewer treatment times for massive lesions.
Male ; Female ; Humans ; Fibrin Tissue Adhesive/therapeutic use* ; Retrospective Studies ; Bleomycin/adverse effects* ; Vascular Malformations/therapy* ; Dexamethasone/therapeutic use* ; Treatment Outcome

Vascular malformations are due to abnormal development of blood and/or lymphatic vessels during embryonic life without endothelial cell proliferation. Most of the previous treatments were symptomatic methods as surgery and sclerotherapy because the pathogenic mechanism was not clearly understood. With advances in molecular biology, the pathogenesis of vascular malformations is thought to be related to inherited and/or somatic mutations that eventually activate the PI3K/ATK/mTOR, Ras/Raf/MEK/ERK pathways. Also, related studies have promoted the use of targeted inhibitors. This article provides a review of current causative genes and targeted drugs for pediatric vascular malformations, aiming to provide a basis for promoting accurate molecular diagnosis and precision targeted therapy for these diseases.
Humans ; Child ; Cell Proliferation ; Vascular Malformations/therapy*

Vascular malformations are due to abnormal development of blood and/or lymphatic vessels during embryonic life without endothelial cell proliferation. Most of the previous treatments were symptomatic methods as surgery and sclerotherapy because the pathogenic mechanism was not clearly understood. With advances in molecular biology, the pathogenesis of vascular malformations is thought to be related to inherited and/or somatic mutations that eventually activate the PI3K/ATK/mTOR, Ras/Raf/MEK/ERK pathways. Also, related studies have promoted the use of targeted inhibitors. This article provides a review of current causative genes and targeted drugs for pediatric vascular malformations, aiming to provide a basis for promoting accurate molecular diagnosis and precision targeted therapy for these diseases.
Humans ; Child ; Cell Proliferation ; Vascular Malformations/therapy*

The objective of this clinical report is to present the first local case of rare cavernous uterine hemangioma. This is a case of a 28‑year‑old G2P1 (1001) during her first trimester of pregnancy who was admitted to our institution for the second time due to profuse vaginal bleeding and severe anemia. The transvaginal scan revealed an embryonic demise of 8 weeks age of gestation noted at the endocervical canal. There is a posterofundal heterogeneous mass measuring 6.3 cm × 5.7 cm × 5.0 cm (volume: 94.2 ml) with multiple cystic spaces, which on Doppler studies showed abundant vascularity suggestive of uterine hemangioma. Antifibrinolytics were administered. The patient underwent emergency hysterectomy with bilateral salpingectomy due to profuse vaginal bleeding with histopathology result of cavernous hemangioma of the uterus. Cavernous uterine hemangioma is a rare vascular lesion that poses a great challenge in the diagnosis and management. There were limited published articles regarding cavernous hemangioma of the uterus. There were conservative treatment options such as uterine artery embolization, the use of hormonal oral contraception, intralesional glucocorticoid therapy, the use of interferon‑α, laser therapy, and surgical excision. Hysterectomy is the definitive treatment for intractable bleeding. It is recommended to establish an international registry for this rare case. The experts in different specialties such as obstetrician‑gynecologists, interventional radiologists, and vascular surgeons, can also formulate an algorithm for its diagnosis and treatment.
Case Reports ; Hemangioma ; Vascular Malformations

Vascular anomalies consist of tumours or malformations made up of abnormal growth or collections of blood vessels that can result in functional or cosmetic problems. While many vascular anomalies are present at birth, some do not appear until later in life, making diagnosis more challenging. Although many vascular anomalies are benign, some are associated with serious complications and may involve multiple organ systems. This article highlights the important features of clinically significant vascular anomalies to help physicians promptly identify and refer these cases to a specialised multidisciplinary team for evaluation and management. The discussion includes the various presenting complaints of vascular anomalies in children, namely, rapidly growing birthmarks, painful lesions, seizures/neurological manifestations, bleeding diathesis, cardiac/airway abnormalities and part of an overgrowth syndrome.
Infant, Newborn ; Child ; Humans ; Vascular Malformations/pathology* ; Vascular Diseases ; Syndrome

Asymmetric overgrowth syndromes are a diverse group of diseases with overlapping features including asymmetric overgrowth of a body part, vascular malformations, lipomatosis, and epidermal nevus. Three important considerations when presented with these features are Proteus syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Skeletal anomalies) syndrome and SOLAMEN (Segmental Overgrowth, Lipomatosis, Arteriovenous Malformation, Epidermal Nevus) syndrome. This paper aimed to present a rare case of asymmetric overgrowth syndrome. A 3-year-old child with asymmetric overgrowth of the right upper and lower extremities was seen at the clinic. He also had epidermal nevus, lipomatosis, skeletal abnormalities, and vascular malformation. The history showed the presence of segmental proportionate overgrowth with soft tissue hypertrophy and ballooning effect based specifically on the location, timing, and progression of overgrowth. On physical examination, macrocephaly was also noted. Based on these features, the diagnosis of SOLAMEN syndrome was made. This is the first reported case of SOLAMEN syndrome in the Philippines. The importance of a careful and thorough history and physical examination cannot be overemphasized. A multidisciplinary approach in management with appropriate referral to subspecialists and early monitoring for possible malignancies are needed.
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

OBJECTIVE: To compare the clinical effect of microsurgery and endovascular embolization in the treatment of spinal dural arteriovenous fistula (SDAVF) by meta-analysis. METHODS: A systematic review was performed to retrieve all relevant literature about surgical treatment or endovascular embolization of SDAVF up to December 2019 through PubMed, Embase, Web of Science, Cochrane Central Register of Controlled Trials Results, CNKI, Wanfang Data, and SinoMed. The Chinese and English key words included: "SDAVF", "spinal dural arteriovenous fistula", "spinal AVM", "spinal vascular malformation and treatment". The included studies were evaluated using the Newcastle-Ottawa scale. The early failure rate, long-term recurrence, neurological recovery, and complications were evaluated and the clinical effects of the two methods in the treatment of SDAVF were compared by using RevMan 5.3 software. And a further subgroup analysis of the therapeutic effect of endovascular embolization with different embolic agents was conducted. RESULTS: A total of 46 studies involving 1 958 cases of SDAVF were included, in which 935 cases were treated by microsurgery and 1 023 cases were treated by endovascular embolization. The funnel plot demonstrated that there was no publication bias. The results of meta-analysis showed that the incidence of early surgical failure was lower than that of endovascular embolization (OR=0.20, 95%CI: 0.13-0.30, P < 0.05), and the long-term recurrence was also lower than that of endovascular embolization (OR=0.36, 95%CI: 0.22-0.58, P < 0.05). The improvement of neurological function in the surgical patients is significantly higher than that in the patients treated with endovascular embolization (OR=2.86, 95%CI: 1.36-5.99, P < 0.05). There was no significant difference in the occurrence of complications in these two groups (OR=1.52, 95%CI: 0.88-2.64, P=0.14). In the cases of endovascular embolization, the risk of treatment failure or recurrence was higher with Onyx glue than with n-butyl 2-cyanoacrylate (NBCA), and the difference was statistically significant (OR=4.70, 95%CI: 1.55-14.28, P < 0.05). CONCLUSION Although the treatment of dural arteriovenous fistulas by intravascular embolization has been widely used, the clinical effect of microsurgery is still better than that of endovascular embolization. Large scale and high-quality randomized controlled trials are required to validate the efficacy and safety of endovascular treatment in SDAVF patients.
Central Nervous System Vascular Malformations/surgery* ; Embolization, Therapeutic/methods* ; Enbucrilate/therapeutic use* ; Endovascular Procedures/methods* ; Humans ; Microsurgery/methods* ; Retrospective Studies ; Treatment Outcome

Diagnosis, Differential ; Humans ; Molecular Biology ; Vascular Malformations/genetics*