Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder marked by mucocutaneous telangiectasias, recurrent epistaxis, and visceral arteriovenous malformations (AVMs). Neurologic risks include brain AVMs and hemorrhagic stroke. Several rare genetic and sporadic syndromes ("HHT-like" syndromes) share overlapping vascular features, complicating diagnosis. Differentiating these conditions is essential for accurate neurovascular risk assessment. A comprehensive literature review (PubMed, Scopus, Embase, Google Scholar; 1990-2025) targeted cerebrovascular manifestations of HHT and related syndromes. Key entities included Wyburn-Mason syndrome, Cobb syndrome, Klippel-Trénaunay syndrome (KTS), neurofibromatosis type 1 (NF1), PHACE(S) syndrome, capillary malformation-AVM (CM-AVM), Parkes Weber syndrome (PWS), juvenile polyposis/HHT overlap (JP-HHT), HHT type 5 (BMP9/GDF2), PTEN hamartoma tumor syndrome (PHTS), and blue rubber bleb nevus syndrome (BRBNS). Data on gene variants, lesion types, neuroimaging, stroke risk, and neurologic outcomes were synthesized. High-flow cerebrovascular malformations similar to HHT are prominent in Wyburn-Mason syndrome, CM-AVM, and PWS, conferring a substantial hemorrhagic stroke risk. NF1 and PHACE(S) primarily feature occlusive arteriopathies linked to ischemic events. KTS, BRBNS, and PHTS predominantly show low- or mixed-flow anomalies with lower CNS hemorrhagic risk but increased thrombotic complications. JP-HHT carries added gastrointestinal cancer risk via SMAD4 variants, while HHT type 5 often presents incompletely. Genetic testing and tailored neuroimaging are critical for differentiation. Although many syndromes mimic HHT, few combine mucosal telangiectasias, high-flow AVMs, and recurrent hemorrhage. Integrating clinical, imaging, and genetic data enables precise diagnosis, risk stratification, and personalized management.

Klippel-Trénaunay syndrome (KTS) and Parkes Weber syndrome (PWS) are rare vascular disorders that share clinical features such as limb overgrowth and capillary malformations. However, they differ in the vascular flow dynamics. KTS is a low-flow malformation, while PWS is characterized by high-flow arteriovenous shunts. A systematic review of the literature was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, focusing on case reports and series describing patients with confirmed KTS or PWS and documented cerebrovascular or spinal vascular findings. Studies were analyzed for type and location of central nervous system lesions, and genetic data were reviewed where available. Forty studies comprising 76 patients met inclusion criteria. In KTS (61 patients), cerebrovascular anomalies were mostly venous in nature, including developmental venous anomalies, venous malformations, and cavernomas, with no spinal arteriovenous malformations reported. In contrast, PWS (n = 15) was exclusively associated with high-flow spinal arteriovenous malformations or fistulas, primarily affecting the thoracolumbar region. No cerebral lesions were identified in PWS. PIK3CA mutations were observed in KTS cases, while Ras GTPase-activating protein 1 mutations were more common in PWS. Cerebrovascular findings might offer valuable diagnostic insight into distinguishing KTS from PWS. These vascular recurrent findings, coupled with genetic testing, can enhance diagnostic precision and guide appropriate management strategies for these complex vascular syndromes.

Parkes Weber syndrome (PWS) is a rare congenital vascular syndrome characterized by complex capillary malformation , venous malformation, lymphatic malformation, and arteriovenous malformation (AVM) in the affected limb with overgrowth; the latter is a pathognomonic feature that differentiates it from Klippel-Trenaunay syndrome. Cardiovascular complications include increased cardiac output, which promotes the onset of heart failure and the development of pulmonary hypertension (PAH), significantly impairing the quality of life due to severe functional class deterioration. However, these complications are currently treatable by ligation or removal of malformations. A 33-year-old male with a long-standing, progressively enlarging AVM of the right upper limb presented with necrosis and haemorrhage, leading to hypovolemic shock. Angiography revealed an AVM involving the subclavian, axillary, and brachial arteries, necessitating embolization and surgical interventions. Six years later, he developed distal finger necrosis, requiring infracondylar amputation. He later presented with stump infection, purulent discharge, orthopnoea, jugular venous distension, a loud second heart sound, and a holosystolic murmur in the tricuspid region. Echocardiography and catheterization confirmed PAH and a high-flow arteriovenous fistula. Multidisciplinary evaluation led to definitive amputation and PAH treatment. Postoperatively, PAH resolved, and the patient was discharged with ongoing follow-up, showing significant improvement. This case report highlights the importance of a multidisciplinary approach in managing PWS, especially when endovascular interventions are not feasible owing to the diffuse nature of the AVM. It also emphasizes the potential for reversing severe complications through definitive surgical intervention in complex cases of PWS.

Parkes-Weber Syndrome is a rare congenital vascular abnormality characterized by aneurismatic illness of blood arteries in the afflicted limb, as well as hypertrophy, ulceration, ischemia, and high-output heart failure. Imaging investigations are required to provide a diagnosis, with contrast arteriography being the gold standard. The majority of treatment options are endovascular, with surgical excision for arteriovenous malformations and limb amputation as alternatives. We describe a 73-year-old male patient with mainly asymptomatic PWS, coronary disease, and borderline EF (45%) who had CABG surgery. In individuals with established CAD and other cardiac disorders, it is critical to identify additional diseases or syndromes that might have a compounding effect on the heart, such as PWS and high-output heart failure.

This study aims to retrospectively analyze the clinical data of children diagnosed with vascular malformations associated with limb hypertrophy, treated at the General Surgery department of Liangjiang Branch of the Children's Hospital Affiliated to Chongqing Medical University. Additionally, it seeks to explore the diagnostic and therapeutic value of endovascular interventions for this condition. This study conducts a retrospective analysis of the medical records of children with vascular malformations accompanied by limb hypertrophy who received treatment in our department. We summarize their medical history characteristics, clinical manifestations, auxiliary examinations, DSA (Digital Subtraction Angiography) results, intraoperative treatment methods, and follow-up data collected at least 1 year post-surgery to evaluate the diagnostic and therapeutic value of these interventions. This study included a total of 19 children, comprising 10 females and 9 males. The average age was 4 years, while the median age was 3 years and 1 month. The primary site of onset was the lower extremities. The disease types predominantly included arteriovenous malformation (AVM), Klippel-Trenaunay syndrome (KTs), and Parkes-Weber syndrome (PWs). All children underwent digital subtraction angiography (DSA) surgery. During the operation, they were categorized into high-flow and low-flow groups based on their blood flow characteristics, and distinct treatment plans were implemented for each group. Postoperative follow-up revealed a significant decrease in limb skin temperature in the high-flow group before and after treatment (t = 9.266, p = 0.000), while the limb circumference in the low-flow group also decreased significantly (t = 5.701, p = 0.002). Additionally, differences were observed in the relief of symptoms such as limb limping, skin plaques, pain, and pruritus between the two groups. During the postoperative follow-up period, only one child with AVM experienced recanalization 1 year after the operation and subsequently underwent reoperation. Vascular malformations associated with limb hypertrophy are relatively rare in clinical practice. Therefore, it is essential to enhance our understanding of these conditions to facilitate early diagnosis and treatment. Endovascular interventional therapy offers significant advantages for the diagnosis and treatment of this disease, making it worthy of wider adoption in clinical settings. Furthermore, treatment plans should be tailored to the specific clinical characteristics of each patient.