a Transverse and b coronal CT, windowed to bone setting, demonstrating destruction of both the external and internal tabula of the skull. Extracranial radial striped calcified fragments are present. c Sagittal T2-weighted and d coronal FLAIR MRI, demonstrating growth to the level of the dura mater, without parenchymal involvement
We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel-Trénaunay-Weber syndrome. This case report provides evidence that not all rapid-growing, osteolytic skull lesions need to have a malignant character but certainly need a histopathological verification. This material offers insight into the list of rar...
... This may also explain the previously observed association between facial venous malformations and developmental venous anomalies . A similar mechanism has been suggested among patients with diffuse gliomas (which often carry PIK3CA mutations) and DVAs, as some studies have reported a 20% prevalence of DVAs in this patient population . Cavernous malformations, often associated with DVAs, have been previously noted in the KTS population. ...
Background and purpose While numerous reports have demonstrated intracranial CNS anomalies associated with Klippel–Trenaunay syndrome, to our knowledge, there has not been a large consecutive study examining these anomalies. The aim of this study was to determine the spectrum of intracranial neurovascular manifestations in patients with a clinical diagnosis of Klippel–Tranaunay syndrome. Methods Consecutive patients with a clinical diagnosis of Klippel–Trenaunay syndrome, as defined by the International Society for the Study of Vascular Anomalies, who underwent brain contrast-enhanced CT/computed tomography angiography, MRI/magnetic resonance angiography, or digital subtraction angiography at our institution from 2000 to 2019 were included. Studies were evaluated by a neuroradiologist and a senior radiology resident for the presence of cavernous malformations, developmental venous anomalies, venous sinus developmental abnormalities, craniofacial venous malformations, intraosseous venous malformations, and intracranial/extracranial venous abnormalities. Results Fifty patients with definite KTS were included. Thirty-four neurovascular anomalies were found in 17 patients (34.0%), including 8 with multiple anomalies. Nine patients had developmental venous anomalies (18.0%), 7 had craniofacial venous malformations (14.0), 6 had venous sinus developmental abnormalities (12.0%), 7 had intraosseous venous malformations (14.0%), and 2 had cavernous malformations (4.0%), and 9 patients had both intracranial venous abnormalities and craniofacial or calvarial findings (13.0%). Conclusion Our findings demonstrate that Klippel–Trenaunay syndrome can involve a wide spectrum of intracranial neurovascular anomalies predominantly involving the venous system
... Our patient developed a rapidly enlarging osseous mass with nonaggressive periosteal new bone formation, thus not implying malignancy. However, the true nature of the lesion remained unknown before final excision, as there are reports on tumors detected in patients with KTS, including malignant peripheral nerve sheath tumors, angiosarcomas, astrocytomas, hemangiopericytomas, hemangiomas, and meningiomas . Moreover, isolated hemihypertrophy, a major clinical manifestation of KTS, is a potential risk factor for developing neoplasms, although the risk of embryonal cancer is reportedly not higher in children with KTS . ...
Background: Klippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and limb hypertrophy. This paper reports a rare and unusual clinical condition of periosteal reaction in a pediatric case of KTS. Although periosteal new bone formation is not rare in children, as is KTS, their dual occurrence or the presentation of the former due to KTS has not been previously documented. Our objective in this study is to highlight the potential association between periosteal new bone formation and KTS, as well as to help physicians consider this association when bone neoplasm has been ruled out. Case presentation: A 7-year old girl, initially presented with a persistent mild swelling in her left shank, with no abnormalities in the X-ray of the tibiofibular. However, after a few consults and examinations, 7 weeks later, a 17 cm-long periosteal new bone formation along the left tibia and diffused dilated vessels in the left shank were revealed by the radiological examination. Not knowing the true nature of the fast-growing lesion in a typical case of KTS was worrying. Therefore, a core needle biopsy was performed. The test demonstrated a possible parosteal hemangioma. Following further investigation through an excisional biopsy, and a pathological analysis, hyperplasia of the bone tissues with no tumor cells was revealed. Thereafter, an elastic stocking treatment was prescribed. During the first two-year follow-up, recurrence of the mass or sign of progression of KTS was not observed. Conclusions: Periosteal new bone formation is a potential manifestation of KTS. Based on the conclusive pathological results of the excisional biopsy, invasive examinations and surgeries could be avoided in future KTS-subperiosteal lesion manifestations.
Background Klippel–Trénaunay-Syndrome (KTS) is characterized by triad of varicose veins, port wine stain and soft tissue or bony hypertrophy and the diagnosis of KTS can be made if any two of these three features are present. Hemangiomas in various location e.g. skull, brain, epidural and vertebral hemangioma, mediastinal, colonic hemangioma, intraneural/intramuscular hemangiomas are reported with KTS. Case Presentation Benign vascular tumors may rarely develop malignant transformation as Bugarin-Estrada et al reported breast angiosarcoma in a patient diagnosed as Klippel-Trenaunay-Syndrome. We reported a case of a 40-year-old female with known case of Klipple-Trenaunay-Syndrome with left leg varicosities, cutaneous nevus as well as unfortunate development of deep venous thrombosis and markedly enlarged right breast hemangioma. Due to low incidence or lack of early detection of breast hemangioma, its diagnosis is challenging. Conclusion The history of patient and multi-modality imaging utilization can help in early and accurate diagnosis of diseases leading to better prognosis.
Vascular malformations of the bone most often involve the cranio-facial area. Even in relevant peer reviewed journals, venous malformations are often misdiagnosed as "hemangiomas" or "angiomas" of the bone. By reviewing literature from the past 5 years (2013-2018), we found many reports of vascular malformations of the bone where the diagnosis was incorrect. Unfortunately, there is still much confusion in understanding and/or diagnosing vascular malformations, despite the fact that in recent years many papers tried to clarify this topic. The purpose of this article is to make a review of the scientific literature concerning vascular malformations of the bone which have been reported as angioma, hemangioma, or hemangioendothelioma, and have been published between January 2013 to October 2018. Clinical features, imaging and histologic reports contained in the papers were reviewed. Subsequently, after reviewing every single paper we reclassified the diagnosis according to the 2018 ISSVA classification. Almost all of the vascular anomalies presented in the reviewed papers as angiomas, hemangiomas, or hemangioendotheliomas were venous (mostly) or arteriovenous malformations. Therefore, only 8 out of 58 papers (14.7%) had an accurate diagnosis. Interestingly, all of the papers reporting cavernous or capillary hemangiomas were actually presenting venous malformations. Making a correct diagnosis is of primary importance because depending on the type of vascular anomaly, the treatment and the prognosis for the patient are very different. Everyone who approaches or describes a vascular anomaly of the bone should know and should adopt a correct and updated nosography.
Background Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by the presence of a combined vascular malformation of capillaries, veins, and lymphatic vessels, congenital venous abnormalities, and limb hypertrophy. Its association with neurovascular abnormalities is infrequent, and the presence of intracranial arteriovenous malformations (AVMs) is extremely rare. Case Description We report a case of a 48-year-old male diagnosed with KTWS who spontaneously presented with a cerebral hemorrhage. CT scan and angio-CT studies revealed bleeding associated with AVM rupture. In the conventional arteriography study, ten small (< 1 cm)AVM were observed. The patient presented a good clinical recovery. These multiple small lesions were not considered susceptible to surgical or endovascular treatments. Therefore, all lesions were treated with Gamma-Knife stereotactic radiosurgery since it attains the highest dose drop and minimal irradiation of the healthy parenchyma. One year after the treatment, the lesions have shrunk. Conclusions Cerebral AVMs are extremely rare in KTWS cases; however, their presence can have serious consequences if they are treated. We find it advisable to include brain imaging tests, such as nuclear magnetic resonance imaging, to diagnose and monitor KTWS. Furthermore, Gamma Knife may be useful when multiple AVMs are present.
We aim to review the imaging findings of Klippel-Trenaunay syndrome. This disorder characterized clinically by a triad of capillary malformations manifesting as a port-wine stain, venous varicosities typically along the lateral aspect of the lower extremities, and bone and/or soft tissue hypertrophy. Imaging of extremities shows unilateral venous varicosities, persistent embryonic veins, anomalous of the superficial and deep venous system, low-flow venolymphatic malformations, and bony and soft tissue hypertrophy. Other findings include neurospinal as cavernoma, aneurysm, and hemimegalencephaly, pulmonary as pulmonary thromboembolism and pulmonary hypertension and visceral as gastrointestinal and genitourinary vascular anomalies. Imaging may detect associated lesions and differentiate from simulating lesions.
A discussion of pathological growth, including an approach to evaluation of a patient with short stature or overgrowth. An accurate diagnosis of the cause is essential to providing good patient care: including prognosis, anticipating and treating complications, and providing accurate genetic counseling. We discuss algorithms to recognize pathologic overgrowth or short stature and discuss some common examples of abnormal body size and proportion.