Computed tomography of Sturge-Weber disease.

Findings in computed tomography (CT) with or without contrast infusion were analyzed in 8 patients with Sturge-Weber disease. From the extent of calcification in the CT, Sturge-Weber disease can be classified into two types, localized and diffuse. The extent of calcification or cortical atrophy is predictable, if it can be shown that enhanced areas in contrast infusion CT truly represent leptomeningeal angiomatosis. Thus, using enhanced CT, the capacity of prediciton as to whether the patient will have a localized or diffuse type of disease will be possible with further observations.     

A case of Sturge-Weber disease with epilepsy and intracranial calcification at the neonatal period

An extremely rare case of Sturge-Weber disease with the early onset of seizure and intracranial calcification at the neonatal period is reported. It is emphasized that computed tomography (CT) is the first choice as diagnostic procedure for this disease, revealing extensive cortical atrophy and calcification which were not detected by other radiological examinations.     

手术治疗不伴面部血管瘤的Sturge-Weber综合征1例

目的 总结不伴面部血管瘤的致(癎)性Sturge-Weber综合征的诊治经验.方法 报告1例女性病人,9岁,表现为药物难治性癫(癎)1年.发作形式为微笑-意识丧失-倒地抽搐.不伴面部和全身血管瘤.MRI显示:左侧顶枕交界区皮质病变,T1W呈等信号,增强后病变沿脑回强化;PET显示:病变及周围葡萄糖代谢降低,病变呈"电车轨道样"钙化.在神经导航和术中皮质脑电图(ECoG)监测下行左侧顶枕叶致(癎)灶切除术.结果 病理报告为软脑膜血管瘤.随访11个月,病人无癫(癎)发作,无严重手术并发症发生.结论 应加强对不伴面部血管痣性Sturge-Weber综合征的认识.手术切除致(癎)灶是治疗致(癎)性Sturge-Weber综合征的有效方法.     

Sturge-Weber syndrome with bilateral intracranial calcification.

Four children affected by Sturge-Weber syndrome and demonstrating bilateral intracranial calcification are described, bringing up to 21 the number of similar reported cases. The frequency of bilateral hemisphere involvement in this syndrome is not known, but it might be as high as 15%. If present, neurosurgical intervention is, in our opinion, contraindicated.     

Sturge-Weber disease: operative indications and surgical results

Patients with Sturge-Weber disease with epilepsy refractory to medical therapy have been reported to develop slowly progressive neurological deficits and ultimately become moderately or severely disabled. We studied six patients with Sturge-Weber syndrome including its incomplete form. Three out of six patients with Sturge-Weber syndrome revealed evolution of calcified angioma on computed tomography. All of the three cases developed medically intractable seizures. Total and/or subtotal hemispherectomy was performed for these three cases. The surgery was effective for controlling seizures in all three cases except one with infantile spasm with hypsarrythmia on electroencephalogram who is still on anticonvulsant. Although the unremitting deterioration in mental retardation and hemiparesis was not effectively prevented by the surgery possibly because the timing of surgery was delayed in one case, the surgery not only stopped the frequent medically-intractable seizures, but also dramatically prevented the psychomotor deterioration in the other case. Although the role of surgical treatment for the patients with Sturge-Weber syndrome remains poorly defined, one can expect excellent results if the indications for surgery are carefully analyzed and hemispherectomy is performed on an individual basis.     

A case of Sturge-Weber syndrome with peculiar venous abnormalities

A case of Sturge-Weber syndrome with poor filling of the deep cerebral venous system is reported. Usually in this syndrome, enlargement of the internal cerebral, basal Rosenthal, deep medullary, and subependymal veins is revealed by angiography. The abnormality of the deep cerebral venous system in this case corresponded to diffuse faint calcification of the right parietal parenchyma. This was accompanied by venous angioma in the left cerebellar hemisphere and poor filling of the left cerebellar veins-findings which are rare in this syndrome. Occlusion or maldevelopment of the cerebral venous system in the prenatal period may be one possible etiological cause of these venous abnormalities.     

Sturge--Weber syndrome: report of an unusual cutaneous distribution

This is an 11 month old girl who has been referred to our institute for a seizure disorder. Her physical examination showed angiomas on the left side of her face, and more extensive and prominent ones on her palms and soles. Her right face and arm were smaller than the left, associated with hypotonia and moderate weakness in the right forearm. Computerized tomography of head showed intracranial calcification in the left fronto-parietal region, and brain MRI, with gadolinium, revealed an extensive leptomeningeal angioma over the entire left hemisphere. This case was diagnosed as Sturge-Weber syndrome with unusual cutaneous manifestations.     

Sturge-Weber syndrome: a review

Sturge-Weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. Facial cutaneous vascular malformations, seizures, and glaucoma are among the most common symptoms and signs. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent strokelike episodes. In this review, we describe the syndrome's characteristic features, clinical course, and optimal management.     

A case of epidermal nevus (Jadassohn's phacomatosis) with changes in the nervous system]

A 22-year old patient with Jadassohn's naevus phacomatosis affecting the right side of the head, face and brain is reported. Besides naevus linearis on the forehead, lipomata of the right palpebra, skin and palate, 2 odontomata, hypodermal and submucosal hyperplasia of the right half of the oral cavity, a small aneurysm of the internal carotid artery in the cavernous sinus and linear calcification in the cortex of the medial surface of the occipital lobe like those in Sturge-Weber disease were found. Clinically, she was found to be mentally retarded (moderately) and having epilepsy. Epileptic attacks occurred up to the age of 13 years, while changes in EEG are still present.     

Pathophysiology of Sturge-Weber syndrome

Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial port-wine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Children with Sturge-Weber syndrome often develop progressive neurologic problems. Data on the pathophysiology of Sturge-Weber syndrome are briefly reviewed. The embryologic, genetic, and pathologic considerations are discussed, as are theories regarding the mechanisms of the degenerative brain changes. Sturge-Weber syndrome likely results from an early embryologic malformation of vascular development affecting the development of the nearby skin, eye, and brain structures. Studies suggest that complex molecular interactions contribute to the abnormal development and function of blood vessels in Sturge-Weber syndrome. Neurologic deterioration in Sturge-Weber syndrome is likely secondary to impaired blood flow to the brain and is worsened by the presence of seizures. Insights from related areas are discussed, and future research studies are suggested.     

Sturge-Weber syndrome associated with atlanto-occipital assimilation: a report of a case (author's transl)

A unique association of Sturge-Weber syndrome and atlanto-occipital assimilation is presented. A 18-year-old male was admitted in emergency because of the sudden severe headache and vomiting. He had vascular nevus in the right half of the face at birth and several episodes of generalized convulsive seizures. On admission craniogram demonstrated calcification in the right occipital area. Neurological examination revealed tenderness in the nuchal region, moderate limitation of cervical mobility in a antero-posterior direction, Bruns-Cushing type nystagmus, bilaterally diminished gag reflex, and positive Romberg's test. Spinal tap showed crystal clear CSF with normal pressure. EEG showed paroxysmal slowing focus in the right parieto-occipital area. Polytomography of the craniovertebral junction demonstrated the unilateral atlanto-occipital assimilation on the left associated with the aplasia of the right posterior arch. Myelography was negative. A right carotid angiography disclosed the dilatation of the basal vein of Rosenthal and abnormal venous vasculature. CT-scan demonstrated the calcified region of the right occipital area more distinctly than the plain roentogenogram, but the enhancement study of the leptomeningeal angioma of the Sturge-Weber syndrome was negative. Never been found this rare association in a review of the literature, the authors discussed the clinical and radiological findings of both diseases.     

Regional cerebral blood flow characteristics of the Sturge-Weber syndrome

Four patients with the Sturge-Weber syndrome were studied using the non-invasive Xenon-133 inhalation technique. All four patients had decreased regional cerebral blood flow in the area of their lesion, and in two patients who were subsequently tested with 5% carbon dioxide inhalation, impaired vasomotor reactivity was documented. Diminished regional cerebral blood flow is consistent with previously described nuclide flow studies which demonstrated a delay in the initial perfusion blush in the region of the abnormal vasculature. The focal decrease in blood flow was greatest in the most severely affected patient, but was also prominent in the two younger patients, both of whom have excellent neurologic function. These studies suggest that localized decrease in blood flow and vasomotor dysfunction in Sturge-Weber syndrome can precede the occurrence of severe neurologic impairment and extensive cerebral atrophy and possibly be a major contributing factor in progressive dysfunction. A secondary observation was that the blood flow in the unaffected hemisphere was significantly greater in two children compared to the two adults and was similar to the age-related differences reported for normal children and adults.     

Sturge-Weber syndrome: altered blood vessel fibronectin expression and morphology

Sturge-Weber syndrome presents with vascular malformations of the brain, skin, and eye. Fibronectin has potent effects on angiogenesis, vessel remodeling, and vessel innervation density. To determine fibronectin expression in the blood vessels of Sturge-Weber syndrome brain and skin tissue and to quantify the density and circumference of Sturge-Weber syndrome blood vessels by type compared with controls, we performed in situ hybridization for fibronectin messenger ribonucleic acid (RNA) expression on six Sturge-Weber syndrome cortical brain samples, six epilepsy brain samples, skin from two port-wine stain skin lesions, and two normal skin samples from two subjects with Sturge-Weber syndrome. Fibronectin messenger RNA was expressed in blood vessels and endothelial cells in the parenchyma of both Sturge-Weber syndrome and control brain tissues and in skin samples. Fibronectin expression was significantly reduced by 23% in the Sturge-Weber syndrome meningeal vessels compared with the epilepsy controls (P < .01). Fibronectin expression was significantly increased by 19% in the Sturge-Weber syndrome parenchymal vessels compared with the epilepsy controls (P < .05). No difference was found in the expression of fibronectin in port-wine stain skin blood vessels. The density of leptomeningeal blood vessels in the Sturge-Weber syndrome brain tissue samples was 45% greater than in the epilepsy samples (P < .05). Blood vessel circumference was significantly decreased in the Sturge-Weber syndrome meningeal vessels compared with the controls (27%; P < .05). When blood vessels from different brain regions were compared, fibronectin expression was decreased in Sturge-Weber syndrome meningeal vessels and was increased in the parenchymal vessels. Altered blood vessel fibronectin expression in Sturge-Weber syndrome could contribute to abnormal vascular structure and function in this disorder.     

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.     

选择性多脑叶切除联合致痫皮层热灼术治疗Sturge-weber综合征1例

目的 探讨多脑叶切除治疗Sturge-weber综合征.方法 结合国内外文献,分析1例采用右额颞顶枕开颅选择性多脑叶切除联合致痫皮层热灼术治疗Sturge-weber综合征.结果 术后随访6个月有一次癫痫小发作,无功能障碍.结论 Sturge-weber综合征药物治疗无效,手术治疗是唯一有效的方法.大脑半球切除术最为有效,但并非所有类型的都适合,有的病例导致严重的功能障碍.我科首例行选择性多脑叶切除 致痫皮层热灼术,效果满意.     

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.     

Transient exacerbation of hemiplegia following minor head trauma in Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) is a sporadic disorder characterized by naevus (port wine stain), a pial angioma, and glaucoma. The angioma comprises abnormal tortuous vessels on the leptomeninges with underlying brain gliosis, calcification, and atrophy. The cerebral angioma is commonly unilateral but may be bilateral. Hemiplegia usually follows recurrent hemiconvulsions and may be related to venous stasis. The hemiplegia can be static, progressive, or fluctuating. Transient worsening of the hemiplegia can be seen with seizures and episodes resembling hemiplegic migraine. We report five patients (four females, one male) with SWS who have had transient worsening of hemiplegia following minor head injuries, occurring between the ages of 10 months and 12 years (median age 4y 6mo). An additional pilot survey suggests that this may affect up to 20% of patients.     

Focal leptomeningeal enhancement and corticopial calcifications underlying a parietal convexity lipoma: a rare association of findings in 2 pediatric epileptic patients

We present the unusual neuroimaging findings of focal cerebral leptomeningeal enhancement in association with corticopial calcifications, underlying a parietal convexity lipoma in 2 pediatric patients with normal psychomotor development, unremarkable physical findings, and recent onset of epilepsy. To our knowledge, this clinical and neuroradiological association has not been previously reported and shows overlapping features with Sturge-Weber syndrome without facial nevus and encephalocraniocutaneous lipomatosis, thus possibly representing an extremely rare variant within the spectrum of these congenital neurocutaneous disorders.     

Elevated Spinal-fluid Protein in Sturge-Weber Syndrome

Five cases of Sturge-Weber syndrome are presented, all of whom had elevated spinal-fluid protein. The use of spinal-fluid protein evaluation as an aid in pre-symptomatic detection of Sturge-Weber syndrome, and in the prognosis, is discussed.

RÉSUMÉ

Elévation du taux protéique de LCR dans le syndrome de Sturge-Weber
Cinq cas de syndrome de Sturge-Weber sont rapportés. Tous présentent un taux protéique élevé dans le liquide spinal. L'utilité de l'évaluation du taux protéique du liquide spinal dans la détection pré-symptomatique du syndrome de Sturge-Weber et dans l'appréciation de l'évolution est discutée.

ZUSAMMENFASSUNG

Erhöhter Proteingehalt im Liquor beim Sturge-Weber Syndrom
Es werden fünf Fälle mit einem Sturge-Weber Syndrom vorgestellt. Alle hatten einen erhöhten Proteingehalt im Liquor. Es wird diskutiert, welchen Wert die Liquorprotein-bestimmungen zur Früherkennung eines Sturge-Weber Syndroms und zur Beurteilung der Prognose haben.

RESUMEN

Aumento de la proteina en el líquido cefalorraquideo en el sindrome de Sturge-Weber
Se presentan cinco casos de síndrome de Sturge-Weber. Todos ellos presentaban un aumento de proteina en el liquido cefalorraquideo. Se dicute la utilización de la evaluación de la proteina en el líquido como ayuda en la detección pre-sintomática del síndrome de Sturge-Weber y en la predicción de su futuro     

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.