Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review.

BACKGROUND: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare syndrome characterized by the triad of cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. Clinical manifestations, genetic testing, and radiologic imaging are the key steps in diagnosing this syndrome. CASE DESCRIPTION: An 18-month-old boy was brought for follow-up brain magnetic resonance imaging (MRI) with a history of right lower limb hypertrophy, cutaneous varicosities, and hemangiomas diagnosed at birth. A baseline MRI at 12 months revealed multiple hemorrhagic lesions within the cerebrum, the largest in the right temporal lobe, which was treated surgically at the age of 18 months because of its rapid growth. This is the youngest patient with KTWS treated surgically for intracranial hemangiomas. CONCLUSION: KTWS is a rare disease with a wide range of manifestations. Multisystemic evaluation of this group of patients should be performed to identify cavernous hemangiomas at the early stage of life and adequately treat them in the future. Treatment of KTWS patients with cavernous hemangiomas should not be different from the treatment of patients with any other hemangiomas, and surgical intervention should be considered on a case-to-case bases.

Clinical manifestations and imaging findings of thrombosis of developmental venous anomalies.

AIM: To determine clinical manifestations, imaging findings and outcome of patients with thrombosed developmental venous anomalies (DVAs). MATERIALS AND METHODS: The radiology database was searched retrospectively for thrombosed DVAs between 01/01/2000 to 07/01/2016. Demographic variables, associated risk factors, clinical manifestations, imaging findings, treatments, and follow-up were recorded. RESULTS: Six patients were found (four female and two male; age range 16-45 years with mean age, 21.3 years). The most common clinical presentation was headaches followed by neurological deficits and seizures. Venous infarction, parenchymal haemorrhage, venous congestive oedema were noted as the radiological findings. Clinical outcome was favourable in all patients with complete recovery or persistence of mild neurological symptoms. CONCLUSION: Thrombosed DVAs may occur under rare circumstances, which lead to variable symptoms. Familiarity with this entity and early recognition of associated findings including venous infarction, parenchymal haemorrhage, and venous congestive oedema would help early diagnosis and prompt treatment.

Developmental venous anomalies.

Developmental venous anomalies (DVAs) are relatively common lesions, present in up to 3% of the population. The defining characteristic of these lesions is the confluence of radially oriented veins into a single dilated venous channel. DVAs are also known as cerebral venous angiomas, cerebral venous malformations, and cerebral venous medullary malformations. They are the most common type of cerebral vascular malformation found on autopsy studies, and they are often encountered as incidental findings on neuroimaging studies. DVAs are congenital lesions thought to arise from aberrations that occur during venous development, but continue to provide the normal venous drainage to the cerebral territory in which they reside. Although the natural history of DVAs is benign, they may be associated with cavernous malformations or other vascular abnormalities, which can lead to hemorrhage in the vicinity of the DVA. Surgical or endovascular obliteration of DVAs carries a significant risk of venous infarction; thus, conservative management is the treatment of choice for patients with these lesions.

Epidural Venous Angioma Presenting with Spinal Cord Compression in a 42-Year-Old Woman with Previous History of Ovarian Malignancy.

BACKGROUND: Venous angioma is an extremely rare vascular malformation of the epidural space. To the best of our knowledge, only 5 cases have been documented to date and none has been reported in the setting of a previous malignancy. CASE DESCRIPTION: We report the case of a 42-year-old woman with a previous history of ovarian cancer, treated by surgery plus chemotherapy; who presented with signs of spinal cord compression for 3 weeks. Magnetic resonance imaging showed an intensely enhancing epidural mass at the T2-T6 level causing major spinal cord compression, for which urgent surgery was indicated. During surgery, the tumor was extremely hemorrhagic and the hemostasis was hazardous. Blood loss was estimated at 1.5 L, causing hemodynamic instability and requiring intensive resuscitation with fluids and blood transfusions. Gross total resection was achieved and the pathologic examination confirmed the diagnosis of venous angioma. The patient recovered quickly postoperatively and was able to walk independently within 2 weeks of starting intensive rehabilitation. She was symptom free with no clinical or radiologic evidence of recurrence at 1 year follow-up. CONCLUSIONS: Venous angioma should be included in the differential diagnosis of spinal epidural masses even in case of previous malignancy. Subtle imaging features should alert clinicians to this rare yet potentially life-threatening condition. Surgery remains the cornerstone of the treatment and can result in remarkable recovery.

Developmental Venous Anomaly: Benign or Not Benign.

Developmental venous anomalies (DVAs), previously called venous angiomas, are the most frequently encountered cerebral vascular malformations. However, DVA is considered to be rather an extreme developmental anatomical variation of medullary veins than true malformation. DVAs are composed of dilated medullary veins converging centripetally into a large collecting venous system that drains into the superficial or deep venous system. Their etiology and mechanism are generally accepted that DVAs result from the focal arrest of the normal parenchymal vein development or occlusion of the medullary veins as a compensatory venous system. DVAs per se are benign and asymptomatic except for under certain unusual conditions. The pathomechanisms of symptomatic DVAs are divided into mechanical, flow-related causes, and idiopathic. However, in cases of DVAs associated with hemorrhage, cavernous malformations (CMs) are most often the cause rather than DVAs themselves. The coexistence of CM and DVA is common. There are some possibilities that DVA affects the formation and clinical course of CM because CM related to DVA is generally located within the drainage territory of DVA and is more aggressive than isolated CM in the literature. Brain parenchymal abnormalities surrounding DVA and cerebral varix have also been reported. These phenomena are considered to be the result of venous hypertension associated with DVAs. With the advance of diagnostic imagings, perfusion study supports this hypothesis demonstrating that some DVAs have venous congestion pattern. Although DVAs should be considered benign and clinically silent, they can have potential venous hypertension and can be vulnerable to hemodynamic changes.

Spinal intradural cystic venous angioma originating from a nerve root in the cauda equina.

A spinal intradural extramedullary venous angioma is extremely rare and has not been previously reported. In this paper, the authors report on this entity with morphological and immunohistochemical evidence, and discuss the surgical strategy for its treatment. A 54-year-old woman presented to Nagoya University Hospital complaining of left-sided pain in the hip, thigh, and inguinal and perianal regions, with progressive worsening during the previous 2 weeks. Lumbar spine MRI showed an intradural extramedullary cyst at the level of T12-L1, which extended from the conus medullaris to the cauda equina. The cyst wall was not enhanced on T1-weighted MRI with Gd. Intraoperatively, a midline dural opening allowed the authors to easily visualize a dark-reddish cyst behind the spinal nerve rootlets in the cauda equina adjacent to the conus medullaris. The cyst was believed to originate from one of the spinal nerve rootlets in the cauda equina and a cluster of veins was identified on the cyst wall. The cyst was resected with the affected nerve rootlet. The surgery left no detectable neurological deficit. Based on the morphological and immunohistochemical evidence, the lesion was diagnosed as a venous angioma. No tumor recurrence was confirmed based on MRI at the time of the 2-year follow up. This is the first report of an intradural extramedullary cystic venous angioma that was successfully resected.

Developmental venous anomaly with contralateral impaired venous drainage in a 17-year-old male. A case report.

Developmental venous anomalies (DVA) drain normal neural tissue and are mostly discovered incidentally. We describe a young patient with a left hemisphere superficial to deep DVA and right hemisphere venous outflow restriction presenting with a seizure. The right hemisphere drainage variation is not typical of a DVA but represents another drainage pattern on the border of normality.

Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases.

Classic Sturge-Weber syndrome (SWS) is characterized by presence of flammeus nevus involving the first sensory branch of trigeminal nerve, ipsilateral leptomeningeal angiomatosis, and choroidal angioma. Sporadic cases of SWS without facial nevus (SWS type III) have been rarely reported. Here we report the clinical and neuroradiological findings of five patients with SWS type III and compare their findings with those described in the literature. This study confirmed that SWS type III should be considered in any child or young adult presenting with seizures or complicated migraine and intracranial unilateral calcification. The diagnosis must be confirmed with contrast-enhanced MRI images of the brain. Surgical therapy should be considered in patients with drug-resistant and persistent epileptic seizures.

Intercavernous connection between the internal carotid arteries.

Intercavernous communication between the left and right internal carotid arteries is an uncommon entity. The authors report a case involving a pediatric patient who was found to have such a vascular anomaly. Such variations should be known by the neurosurgeon so as to avoid misdiagnosis and potential iatrogenic injury.

Cerebral developmental venous anomalies.

INTRODUCTION: Cerebral developmental venous anomalies (DVAs) are the most frequently encountered cerebral vascular malformation. As such, they are often observed incidentally during routine CT and MRI studies. Yet, what DVAs represent from a clinical perspective is frequently not common knowledge and DVAs, therefore, still generate uncertainty and concern amongst physicians. This article reviews our current understanding of developmental venous anomalies. RESULTS: In the majority of cases, DVAs follow a benign clinical course. On rare occasions, DVAs become symptomatic generally due to an underlying associated vascular malformation such as cavernous malformations or thrombosis of the collecting vein. Rare forms of DVAs include arterialized DVAs and DVAs involved in the drainage of sinus pericranii, which warrant additional investigation by digital subtraction angiography. Cerebral abnormalities such as atrophy, white matter lesions and calcifications within the drainage territory of asymptomatic DVAs, are often identified on CT or MR imaging studies and likely represent secondary changes due to venous hypertension. There is increasing evidence that DVAs have a propensity for developing venous hypertension, which is thought to be the cause of associated cavernous malformations and parenchymal abnormalities. CONCLUSIONS: DVAs represent variations of the normal cerebral venous angioarchitecture and by enlargement follow an uneventful clinical course. Complications can, however, occur and their management requires a thorough understanding of the nature of DVAs, including their frequent coexistence with other types of vascular malformation, and the existence of more complex but rare forms of presentation, such as the arterialized DVAs.

Diffuse hemangiomatosis with predominant central nervous system involvement.

Diffuse neonatal hemangiomatosis presents with multiple, progressive, rapidly growing cutaneous hemangiomas associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. Described here is a case of diffuse neonatal hemangiomatosis with predominant central nervous system involvement. The early appearance of central nervous system lesions on imaging can overlap with that of cavernous malformations, confounding diagnosis; however, rapid growth, response to steroids, cystic appearance with sedimentation levels of the mature lesions, and involvement of other visceral organs can help confirm the diagnosis.

Venous lesions as a cause of sylvian aqueductal obstruction: case report.

OBJECTIVE: The cases of two patients who presented with sylvian aqueductal obstruction caused by venous lesions (an ectatic vein and a developmental venous anomaly, which are uncommon causes of obstructive hydrocephalus) are reported. CLINICAL PRESENTATION: A 42-year-old man presented with chronic headache and behavior abnormalities. Magnetic resonance imaging revealed supratentorial ventricular dilation caused by an obstruction of the sylvian aqueduct by a developmental venous anomaly. An 18-year-old man complained of intermittent headaches. The magnetic resonance imaging scan disclosed aqueductal stenosis-type hydrocephalus secondary to an ectatic vein. INTERVENTION: Both patients underwent endoscopic third ventriculostomy and recovered well. During the procedures, the aqueductal obstruction by venous elements could be seen clearly. CONCLUSION: Venous anomalies may cause obstructive hydrocephalus and can be suspected in cases of chronic and intermittent headaches. Endoscopic third ventriculostomy is an effective treatment.

Case report: seizures in a child caused by a large venous angioma.

Cerebral venous angioma is a congenital anomaly of the medullary vein, the vessel that drains into the transparenchymal venous stem. This lesion is also referred to as a developmental venous anomaly. A few reports in the literature have documented developmental venous anomaly-related epilepsy, neurologic deficits, and intracranial hemorrhage. A 3-year-old boy was referred to our hospital after he sustained an afebrile, tonic-clonic, focal seizure of 15 minutes' duration that affected his right arm, leg, and eyebrow. Cerebral digital subtraction angiography showed a bilateral, large periventricular developmental venous anomaly. This report describes the clinical and radiologic findings for this large venous angioma that caused seizures in a child.

Decreased cortical excitability due to a large venous angioma.

This study reports on a patient with episodes of right hand paralysis and complete sensory loss, considered to be functional because of a glove-like distribution of the sensory deficit, normal motor and sensory nerve conduction studies of median and ulnar nerve as well as normal median nerve somatosensory evoked potentials. Transcranial magnetic stimulation indicated increased threshold of the left hemisphere. Neuroimaging studies revealed a large venous angioma in the left frontal lobe.