Sturge-Weber syndrome: deep venous occlusion and the radiologic spectrum

Sturge-Weber syndrome is a neurocutaneous syndrome with a facial port-wine nevus and neurologic features, typically including seizures and hemiparesis. Glaucoma may also occur. MRI features include leptomeningeal angiomatosis, cortical and pial calcifications, and angiomatous change of the choroid plexus. We reviewed a subset of patients with Sturge-Weber syndrome with the rare finding of deep venous occlusion, and present such a case, unusual by comparison to previously reported cases of Sturge-Weber syndrome with deep venous occlusion. Six previously reported cases were reviewed. All cases presented with seizures; five of six had evidence of leptomeningeal angiomatosis; half had cerebral hemiatrophy. This report presents a unique case lacking clinical seizures, but with a port-wine stain and congenital glaucoma. This patient lacked the radiologic findings of leptomeningeal angiomatosis and hemicerebral atrophy, but demonstrated deep venous occlusion with frontal venous collaterals. There is a wide spectrum of findings in Sturge-Weber syndrome. The lack of seizures and angiomatosis in this case are likely "true-true" and related. The case illustrates the unusual finding of deep venous occlusion in Sturge-Weber syndrome occurring without leptomeningeal angiomatosis. Additionally, it demonstrates that although the initial evaluation is normal, patients may later manifest clinical characteristics of Sturge-Weber syndrome.     

Migraine-like attacks in child with Sturge-Weber syndrome without facial nevus

The Sturge-Weber syndrome was recently subdivided into type I (facial and leptomeningeal angioma, possible glaucoma), type II (facial angioma, without evident endocranial involvement), and type III (exclusive leptomeningeal angioma). Thus far in the literature only 24 cases of Sturge-Weber syndrome type III have been reported. This study presents a case of a 2-year 9-month-old child with normal psychomotor development and skin free (no angiomas), who presented repeated episodes of severe headache, vertiginous symptoms, vomiting, and drowsiness, separated by complete recovery. The cranial computed tomography and magnetic resonance imaging with gadolinium revealed left occipital leptomeningeal angiomatosis with calcifications, suggesting a diagnosis of Sturge-Weber syndrome type III. Considering the normal psychomotor development, the improved electroencephalographic reports between the episodes, and the absence of hypoperfusion areas on single-photon emission computed tomography at 30 months of follow-up, the symptomatology appears an expression of migraine-like symptoms resulting from vasomotor disturbances within and around the angioma, more than an expression of partial seizures arising through an epileptic focus in the ischemic region around the vascular malformation.     

Encephalofacial angiomatosis sparing the occipital lobe and without facial nevus: on the spectrum of Sturge-Weber syndrome variants?

We report two cases of leptomeningeal angiomatosis in atypical frontoparietotemporal locations without an associated facial port-wine stain. Evidence of a leptomeningeal angioma was found in each when they were evaluated for headaches and seizures. The diagnosis of a leptomeningeal angioma was suggested by calcifications noted on computed tomographic scan of the head and confirmed with contrast-enhanced magnetic resonance images of the brain. We hypothesize that given the lack of occipital involvement with the angioma, and therefore the noncontiguous nature of this lesion with the developing upper facial ectoderm, the failure to develop a facial angioma would be expected. We found that the useof an anticonvulsant along with a migraine prophylactic medication appeared to have the greatest efficacy in these two cases, whereas anticonvulsants alone were less helpful. This diagnosis should be considered in any child presenting with seizures or complicated migraines and intracranial calcifications.     

Sturge-Weber syndrome variant with atypical intracranial findings: case report

Sturge-Weber syndrome is characterized by a facial port-wine nevus, leptomeningeal angiomatosis, and glaucoma; it is commonly complicated by epilepsy and hemiparesis. We present a patient with a head and neck port-wine nevus, glaucoma, abnormalities of the intracranial deep veins, and untreated communicating hydrocephalus. The patient lacks any radiologic or clinical evidence of cerebral leptomeningeal angiomatosis. Considering that intracranial venous anomalies also are likely compatible with the embryologic explanation of Sturge-Weber syndrome, this child can serve as an unusual example of Sturge-Weber syndrome type II.     

Left-sided facial nevus with contralateral leptomeningeal angiomatosis in a child with Sturge-Weber syndrome: case report

Sturge-Weber syndrome is characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Variants of this classical presentation have been described in the literature, some of which have prognostic significance. We report a magnetic resonance imaging (MRI)-confirmed variant of a leptomeningeal angioma contralateral to the facial nevus. We describe one patient with Sturge-Weber syndrome who presented with a left-sided facial nevus, left eye glaucoma, episodes of left-sided weakness, and right-sided leptomeningeal angiomatosis by gadolinium-enhanced brain MRI. The literature regarding variants of Sturge-Weber syndrome and their prognosis is reviewed. The prognosis for this variant is likely similar to Sturge-Weber syndrome with an ipsilateral leptomeningeal angioma.     

Leptomeningeal angiomatosis with infantile spasms

We describe a 7-month-old female with leptomeningeal angiomatosis who developed infantile spasms. She did not manifest facial nevus or ocular choroidal angioma. Leptomeningeal angiomatosis is characterized by venous angiomas of leptomeninges and usually accompanied by facial nevus, a condition known as Sturge-Weber syndrome. In Sturge-Weber syndrome, leptomeningeal angiomas can cause infantile spasms but much less frequently than in other neurocutaneous syndromes, such as tuberous sclerosis. This patient is the first reported case of leptomeningeal angiomatosis without facial nevus who developed infantile spasms. Leptomeningeal angiomas should be taken into consideration as a cause of infantile spasms, even in the absence of facial nevus. We suggest that this case is clinically within the spectrum of Sturge-Weber syndrome, and that the embryologic origin of this case is similar to that of Sturge-Weber syndrome.     

Atypical Imaging Evolution of Sturge-Weber Syndrome Without Facial Nevus

We report a patient with Sturge-Weber syndrome without facial angioma, who presented with seizures and normal initial imaging results. The patient experienced several years without seizures before a sudden increase in seizure frequency, followed by an atypical evolution of imaging findings prompting biopsy to establish the diagnosis. This case highlights not only the rare presentation of isolated leptomeningeal angiomatosis, but also the potential for atypical evolution of imaging findings through the course of the disease. We detail the imaging findings of our case and review the potential pathophysiological basis for this appearance. Our experience suggests that repeat imaging is warranted in patients with suspected Sturge-Weber syndrome or those with intractable cryptogenic epilepsy, because some imaging features of Sturge-Weber syndrome may manifest over time.     

Autism with facial port-wine stain: a new syndrome?

The hallmark of Sturge-Weber syndrome is leptomeningeal angiomatosis. Over 15 years, four children were identified (2 boys, age 2.9-6 years) with unilateral facial port-wine stain, referred for presumable Sturge-Weber syndrome but who were also autistic. Computed tomography and magnetic resonance imaging scans failed to show evidence of leptomeningeal angioma in all four children. Three of the children had a history of seizures. Detailed neuropsychologic testing of three children revealed a similar presentation, characterized by developmental disturbance, particularly involving delayed onset of language, and early-emerging social atypicality. Positron emission tomography scanning of cerebral glucose metabolism revealed hypometabolism in the bilateral medial temporal regions, anterior cingulate gyrus, frontal cortex, right temporal cortex, and cerebellum. The pattern of glucose hypometabolism differed from that of 12 children with infantile autism (age 2.7-7.9 years) who had mild left medial temporal but more severe right temporal cortical hypometabolism and showed a reversal of normal frontotemporal asymmetry of glucose metabolism. Unilateral facial port-wine stain and autism with no intracranial angioma on conventional imaging may represent a rare clinical entity distinct from both infantile autism and previously described variants of Sturge-Weber syndrome.     

Focal cortical dysplasia type IIa underlying epileptogenesis in patients with epilepsy associated with Sturge‐Weber syndrome

In patients with epilepsy associated with Sturge‐Weber syndrome (SWS), epileptogenesis has been suggested to be caused by chronic ischemia in cortical areas affected by leptomeningeal angiomatosis or by ischemia‐related cortical malformations. However, this has not been fully verified electrophysiologically. We herein present two cases of SWS with medically intractable epilepsy in which the epileptogenic area involved focal cortical dysplasia (FCD) type IIa near the region of leptomeningeal angiomatosis. In both cases, the ictal‐onset zones were identified by chronic subdural electrodes, and the presence of FCD type IIa was shown histopathologically. In SWS, especially in association with focal leptomeningeal angiomatosis, FCD may thus play a major role in epileptogenesis. FCD should therefore be demonstrated by the collective findings of perioperative neurophysiologic examination, anatomic and functional neuroimaging, and histopathologic examination.     

MR-imaging findings in children with Sturge-Weber syndrome

Intracranial extent and distribution of leptomeningeal angiomatosis, visualized by magnetic resonance imaging (MRI) with Gadolinium-DTPA (Gd-DTPA) enhancement, is demonstrated in four children with Sturge-Weber syndrome (SWS). Aged 7, 9, 11 and 19 months, they presented with cutaneous, neurologic and ocular symptoms at the time of MRI examination. Angiomatous alteration of the skull, atypically located and congested intracerebral and basal veins as well as intracerebral changes secondary to the leptomeningeal angiomatosis are demonstrated with T2 weighted images. Gd-DTPA enhanced T1 weighted images exhibit clearly the regional distribution of angiomatosis in the skull, meninges and within the brain. Before calcifications in children with SWS are detectable by CT, MRI is the method of choice to detect intracranial involvement. Enhancement with Gd-DTPA improves the diagnostic value of MRI, before neurological symptoms appear. Follow-up studies with Gd-DTPA enhanced MRI can be applied to recognize thrombotic changes of leptomeningeal angiomatosis as well as subsequent intracerebral impairment.     

Secondary bilateral synchrony in unilateral pial angiomatosis: successful surgical treatment.

Three children with circumscribed unilateral pial angiomatosis had both generalised and partial seizures associated with bilateral synchronous spike-wave complexes. Dramatic control of the seizures was obtained by surgical removal restricted to the angiomas and underlying cortex. There was recurrence of seizures in one patient from whom only one of two angiomatous areas was removed but not in the two patients whose excision was total. These cases indicate that secondary bilateral synchrony can occur with lesions of the posterior and external parts of one hemisphere. Surgical removal of a definable lesion, without intracranial recording, can help patients with intractable epilepsy due to unilateral pial angiomatosis, even in the presence of wide diffusion of clinical and electroencephalographic abnormalities.     

Meningocerebral hemangiomatosis resembling Sturge-Weber disease in a horse

Summary A 3-year-old horse presented with intermittent generalized seizures of 2-month duration. During interictal periods, the horse appeared normal and a cause for the seizures could not be identified. Necropsy revealed opacity of the leptomeninges, covering most of one cerebral hemisphere along with thinning and collapse of the cortex in the ipsilateral pyriform lobe. Histopathology demonstrated leptomeningeal vascular proliferation and meningothelial hyperplasia. Prominent tortuous vessels of the gyri and sulci extended into some regions of the subjacent cortex, where there was neuronal loss, ectopia, and disorganization. Clusters of prominent arterioles were found in the sclerotic choroid plexus of the lateral and fourth ventricles. Milder vascular lesions were present in the leptomeninges of the ventral brain stem, right cerebrum, spinal cord, and in the eye. The left trigeminal nerve was distorted by swollen fasicles containing onion bulb-like structures. Most bulbs contained central axons surrounded by myelin sheaths of variable thickness. Electron microscopy demonstrated concentrically arranged cells with continuous basal laminae and rare pinocytotic vesicles. S-100 immunohistochemistry showed strong positive staining in these cells. This is an unusual combination of lesions to which analogies can be drawn with the human neuroectodermal dysplasias, specifically Sturge-Weber disease. The relationship of the neuropathy to the leptomeningeal hemangiomatosis is unclear, but a compound anomaly in embryological development resulting in dysplasia and neoplasia may be involved.     

Sturge–Weber syndrome

Introduction Sturge–Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75–90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that consequently should be evaluated for epilepsy surgery.Indications to surgical treatment Children with SWS and drug-resistant epilepsy are optimal candidates for disconnective or resective surgical procedures in terms of both seizure control and intellectual outcomes. Controversies, however, still exist between the advantages of early “prophylactic” operation vs later surgical interventions. Though better results in terms of seizures control and psychomotor development were reported in a limited series of children operated on early in life, the insufficient number of subjects who underwent the surgical treatment does not allow definite conclusions yet.Neurosurgical techniques Visually guided lobectomy with complete excision of the angiomatous cortex should be considered as the primary surgical procedure in patients with focal lesions. Hemispherectomy is the treatment of choice in children with extensive hemispheric lesions.     

A case of leptomeningeal angiomatosis clinically improved by flunarizine

A 3-year-old boy was reported, who suffered from attacks of hemiconvulsion and hemiparesis. Carotid angiography showed anomalous cerebral venous drainage with a decrease in the number of superficial cortical veins, and dilatation of medullary veins and deep veins. Brain scanning demonstrated abnormality of regional cerebral blood flow and delay of both uptake and drainage of radionuclide. These are similar to the findings known in Sturge-Weber disease, so that a leptomeningeal angiomatosis was strongly suggested. Flunarizine which has a cerebral vasodilating effect improved his clinical symptoms significantly, and his attack disappeared completely.     

Sturge-Weber disease--neurophysiological evaluation of a case with secondary epileptogenesis, successfully treated with lobe-ectomy

A case of Sturge-Weber's disease with a generalized seizure at 7 months of age is described, followed 7 months later by the development of very frequent and therapy resistent myoclonic astatic fits. The neurophysiological evaluation indicated a primary lesion in the right occipital area followed by signs of secondary epileptogenesis. The patient was cured by a right-sided occipital lobe-ectomy including an area of leptomeningeal angiomatosis.     

Tumor glioneuronal leptomeníngeo difuso: diagnóstico y tratamiento con un caso ilustrativo

Diffuse leptomeningeal glioneuronal tumors (DLGNTs) are a rare indolent neoplasm described in the 2016 WHO classification of tumors of the central nervous system (CNS). We describe a case of an 11 year old boy who initially presented intermittent headache, low back pain and communicating hydrocephalus, misdiagnosed as having tuberculous meningitis. Further clinical deterioration with seizures was observed and follow-up MRI showed further aggravation of leptomeningeal enhancement in the basal cisterns. Biopsy of the brain and leptomeninges revealed a diffuse leptomeningeal glioneuronal tumor. DLGNT should be considered in the differential diagnosis of conditions presenting as communicating hydrocephalus with nodular lesions and leptomeningeal enhancement. A timely histologic diagnosis through a biopsy of the brain is necessary to confirm the diagnosis.     

Sturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients

Sturge-Weber syndrome (SWS) involves vascular malformations of the skin (facial port-wine stain), eye (glaucoma) and the brain (leptomeningeal angioma). Children born with a port-wine stain on the upper part of the face are also at risk for brain involvement. These infants and young children often develop seizures and other neurologic impairments. Progression in neurologic deficits does occur in some patients, but this is quite variable. A diagnosis of brain involvement is made with head computed tomography and contrast-enhanced MRI, but the sensitivity of standard imaging in young asymptomatic infants is low. Seizures occur in more than 75% of affected individuals. Clinical course and functional imaging suggest a role for both cerebral perfusion impairments and seizures in the development of neurologic deficits. Several controversies exist in the management of seizures and other neurologic impairments in SWS. Continued efforts are needed to develop a multicentered network for SWS clinical trials. Future research should be focused on this goal and on studies to improve our understanding of the cause(s) and molecular neuropathology of SWS.     

Intracerebral hemorrhage: an unusual presentation of neurosarcoidosis

Neurosarcoidosis has a variety of clinical presentations. Common manifestations include leptomeningeal inflammation with seizures, headache, cranial nerve palsies, hydrocephalus, or focal neurological deficits with white matter lesions or mass lesions. Stroke is relatively rare, and hemorrhage is much less common than ischemia due to vasculitis. We present a patient with histopathologically confirmed neurosarcoidosis presenting with headache, seizures, and cognitive decline with multiple recurrent primary intracerebral hemorrhages.     

The ultrastructure of Sturge-Weber disease

Summary Five infantile and one adult case of Sturge-Weber disease were studied pathologically. The calcification occurring under the leptomeningeal angiomatosis increased with advancing age. Light and electron microscopy of two cases showed the smallest, and therefore possibly the earliest, calcifications occurred in perithelial cells. It is hypothesized the cause of calcification is anoxic injury to endothelial, perithelial and possibly glial mitochondria due to stasis and abnormal vessel permeability in the cerebral vessels composing the Sturge-Weber angioma.