Sturge-Weber syndrome involved frontoparietal region without facial nevus

Classic Sturge-Weber syndrome is characterized by a facial nevus and hamartomatous lesion in the brain. Hamartomatous lesions are usually located in the ipsilateral occipital region of the facial nevus. The other lobes may be involved. A few cases of Sturge-Weber syndrome without facial nevus have been reported. A 9-month-old male was admitted with the complaint of afebrile seizures two times. We observed the third seizure, which was complex partial, in the clinic. There was no facial hemangioma. On computed tomography and magnetic resonance imaging of the brain we observed findings concordant with the angioma in the right frontoparietal region, although the occipital region was intact. This patient appears to be the first with Sturge-Weber syndrome without facial nevus, and with involvement of the frontoparietal region but not the occipital region. We do not know the embryologic basis of this association.     

A case of atypical type of Sturge-Weber syndrome demonstrated reversible change by MRI FLAIR method in ictus and in postictal state]

We report a patient of atypical type of Sturge-Weber syndrome who demonstrated a reversible change by MRI FLAIR method in ictus and postictal state. A 5-year-old boy was admitted to our hospital because of severe headache, vomiting and loss of consciousness with his eyes conjugated to left for a few minutes. He had no facial nevus and other abnormal findings in physical examination. CT scan showed two small calcifications in the right occipital lobe. Postcontrast T 1-weighted image of MRI demonstrated a right parieto-occipital leptomeningeal enhancement. We diagnosed this case as an atypical type of Sturge-Weber syndrome. Although, on admission, FLAIR method showed the area of high signal intensity, after anticonvulsant therapy, those abnormal area disappeared. It is presumably detected by FLAIR method slight extravasation of plasma element in the surface of the brain due to regional hyperperfusion in ictus.     

Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Klippel-Trenaunay syndrome

The patient presented here has extensive hemangiomata plana, especially on the right forehead, right upper eyelid, and right leg, as well as right leg hypertrophy and macrocephaly. Cerebral magnetic resonance imaging (MRI) showed abnormalities in only one occipital lobe consisting of focal cortical atrophy, leptomeningeal enhancement, and ipsilateral choroid plexus enlargement. Mental and motor development is normal, and he has no seizures. The parents are consanguineous. Leg hypertrophy associated with ipsilateral cutaneous vascular malformations is suggestive of Klippel-Trenaunay syndrome. The patient's central nervous system abnormalities on MRI and the hemangiomata plana on the ipsilateral upper eyelid and forehead point to Sturge-Weber syndrome. We conclude that the patient has an overlap syndrome between Klippel-Trenaunay syndrome and Sturge-Weber syndrome.     

Visual functional magnetic resonance imaging in patients with Sturge-Weber syndrome

The purpose of this study is to report different patterns of visual cortex activation in patients with Sturge-Weber syndrome as compared with healthy control subjects. Utilizing a visual paradigm of flashing lights, three children with Sturge-Weber syndrome were studied with functional magnetic resonance imaging. The results are compared with those documented in eight normal sedated children, and six young adult awake volunteers, using the same paradigms. All adult volunteers manifested bilateral activation in primary visual cortex (Brodmann's 17 and 18 areas). Two of them also had activation in secondary visual cortex (Brodmann's 19 area). In the eight sedated normal children, seven manifested activation in primary visual areas. The last exhibited no activation. The patients with Sturge-Weber syndrome demonstrated in the affected occipital lobe increased activation in one patient (11 months old), no activation in the second (12 years of age), and abnormal distribution of the activation in the third (11 months old). This report demonstrates that the vascular malformation of Sturge-Weber syndrome does not necessarily prevent cortical activation in the expected occipital cortex and may be associated with different patterns of abnormal activation. Assessing cortical function with functional magnetic resonance imaging in patients with Sturge-Weber syndrome may be helpful in decisions of surgical management and counseling.     

Cortical vascular abnormalities in the syndrome of celiac disease,epilepsy, bilateral occipital calcifications,and folate deficiency

The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge-Weber syndrome.     

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.     

多脑叶皮层切除治疗Sturge-Weber综合征继发癫痫一例及文献复习

目的 探讨Sturge-Weber综合征继发癫痫和发育迟滞的手术治疗的方法和疗效.方法 回顾性分析2007年11月手术治疗的Sturge-Webet综合征继发癫痫和智力、体格等多方面发育迟滞的1例患儿的临床资料.进行术前评估后,在全麻下行"右侧半球开颅,右侧额、顶叶和部分颞、枕叶脑组织皮层切除术".结果 术后当天患儿左侧肢体肌力为Ⅰ级,但3 d后左侧肢体肌力开始逐渐恢复,至术后21 d,左侧肢体肌力恢复至术前水平.随访18个月,患儿癫痫发作完全消失,并于术后12个月时自行停用抗癫痫药物.左侧肢体肌力达到Ⅴ-级,功能好于术前,左手手指活动好转,能握住钢笔等物体.语言功能显著好转.攻击行为消失,性格较温顺,认知和行为能力均有明显好转.发育状况评估DQ值从术前的48改善为75.结论 Sturge-Weber综合征继发癫痫和发育迟滞可行病变多脑叶切除性手术治疗,不仅可以控制癫痫,还可能改善发育.     

Sturge-Weber综合征伴皮层发育不良1例并文献复习

目的探讨Sturge-Weber综合征的临床特点、影像学特征、病理诊断及鉴别诊断。方法分析1例8岁女性Sturge-Weber综合征病人的临床资料、影像学特征,光镜下观察病理学形态并行免疫组化染色检查。结果CT显示左侧顶枕叶条索状钙化;MRI示左侧顶枕叶软脑膜病变,增强后强化明显,强化沿脑回分布。病理学特点表现为软脑膜的静脉性血管瘤,病变皮层下沿脑回呈带状分布的钙化灶,同时伴有皮层发育不良。免疫组化结果：发育不良神经元核抗原阳性,皮层内增生胶质细胞的胶质纤维酸性蛋白和S-100蛋白阳性。结论结合临床病史、影像学资料及病理学形态进行综合性分析才能正确诊断Sturge-Weber综合征。     

Reversible cortical blindness (Anton's syndrome) associated with bilateral occipital EEG abnormalities

A 50-year-old woman with systemic lupus erythematosus was admitted in an obtunded state. An EEG recorded while she was unconscious demonstrated one episode of rhythmic sharp wave activity in the left occipital area that lasted for 5 minutes and was followed later in the same recording by an episode of high amplitude sharp wave discharges in the right posterior temporal and occipital areas. When the patient regained consciousness, she had an Anton's syndrome of cortical blindness with denial. When she recovered light perception only, the EEG demonstrated synchronous and independent right and left occipital-posterior temporal periodic lateralized epileptiform discharges (PLEDs). Cortical blindness (Anton's syndrome) associated with abnormal electrical activity in the occipital areas has only rarely been reported. Our case is significant for the following reasons: 1) PLEDs maximal right and left occipital areas associated with bilateral visual loss has not previously been observed; 2) abnormal electrical activity in the occipital lobes may be a reversible cause of Anton's syndrome.     

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.     

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.     

Epileptic monocular nystagmus

The authors describe a case of epileptic monocular nystagmus in a cognitively intact adult with normal vision. Focal seizures originated in the occipital lobe contralateral to the involved eye, and an associated structural lesion was thought to represent a forme fruste of Sturge-Weber syndrome. It is hypothesized that the seizure discharge either activated a cortical saccade region and caused simultaneous supranuclear inhibition of ipsilateral eye movement or triggered monocular eye movement commands.     

Sturge-Weber syndrome without port-wine facial nevus. Report of 2 cases studied by CT

2 cases of Sturge-Weber syndrome without facial nevus are reported. The patients presented different forms of epilepsy. The diagnosis was made by computed tomography (CT) which showed typical intracranial calcifications in both occipital regions. The problems concerning the atypical and incomplete forms of the syndrome are briefly discussed. The importance of CT as a diagnostic procedure for this disease is emphasized.     

Ictal visual hallucination intermittent photic stimulation: using evaluation of the clinical findings, ictal EEG, ictal SPECT, and rCBF]

A 43-year-old, right-handed woman experienced right hand paresthesias and a visual field abnormality. We attributed her symptoms to psychiatric abnormalities, due to the presence of delusions and auditory hallucinations. Upon photostimulation, she experienced left visual field hallucinations and demonstrated slow waves on the right parieto-occipital regions. The clinical and electro-encephalographic findings suggested that these episodes were epileptic seizures originating from the right occipital region. Ictal fear appeared at the end of the seizure, reflecting the spread of seizure activity to the mesial temporal region. Ictal SPECT images showed hyper-perfusion in the right occipital region and left cerebellar cortex. rCBF in the occipital lobe was significantly asymmetrical. When we encounter an epileptic patient with psychosis who has a visual hallucination, we should consider the possibility of epileptic seizure originating from the occipital lobe.     

枕骨髁的磨除与颅颈部稳定性关系的临床研究

目的探讨在枕大孔区腹侧病变切除术中枕骨髁的磨除范围与术后颅颈部稳定性之间的关系。方法远外侧经髁入路治疗枕大孔区腹侧病变32例。术中磨除枕骨髁后1/3者（A组）13例,磨除枕骨髁后1/2者（B组）11例,磨除后2/3者（C组）7例,枕骨髁完整磨除者1例。所有病人术后均行颅颈部X线片检查,依据Abe不稳定指标（Ⅱ）对病人颅颈部稳定性进行分级。结果A组13例颅颈部均稳定（100%）;B组10例稳定（90.9%）,1例稳定性差;C组7例均稳定性差,并有脊髓受压症状。A、B组颅颈部稳定率明显高于C组（P〈0.01）。结论枕骨髁的磨除范围应限于其后内侧1/3至1/2,这样既可以充分显露手术视野,又不影响术后颅颈部的自然稳定性。当磨除范围达到枕骨髁后内侧2/3时,可明显影响术后颅颈部自然稳定性,应尽可能行颈枕融合术。     

A study on Sturge-Weber syndrome. Report of a case associated with infantile spasms and electroencephalographic evolution in five cases.

A case of classical Sturge-Weber syndrome associated with infantile spasms (female infant, aged 4 months) was presented. The association of both conditions would be very rare since no similar case was found among 214 cases of Sturge-Weber syndrome and 1,180 cases of infantile spasms gathered from the literature, except for one who was reported by Millichap et al. Evolutional changes of electroencephalographic findings were followed up for about 3 years on average in 5 personal cases of Sturge-Weber syndrome. Unilateral depression of electrical activity in the cerebral hemisphere ipsilateral to the facial nevi was the constant finding. Focal spike discharges were noticed only in the contralateral hemisphere in 3 cases, only in the ipsilateral in 1, and in the bilateral in 1.     

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.     

White matter volume as a major predictor of cognitive function in Sturge-Weber syndrome

OBJECTIVE: To assess the role of gray and white matter volume loss vs seizures in cognitive impairment of children with Sturge-Weber syndrome with unilateral involvement. DESIGN: Patients were enrolled in this prospective cohort during a period of 3 years. SETTING: Pediatric neurology clinic with national referral through the Sturge-Weber Foundation. PARTICIPANTS: Twenty-one children (age range, 1 year 6 months to 10 years 4 months) with unilateral Sturge-Weber syndrome. MAIN OUTCOME MEASURES: Cortical gray matter and hemispheric white matter volumes were measured on segmented volumetric magnetic resonance imaging and correlated with the age of the participants. Global intellectual function (IQ) was correlated with magnetic resonance imaging and seizure variables in both univariate and multivariate analyses. RESULTS: Both gray and white matter volumes showed an age-related linear increase. Tissue volumes on the side of the angioma showed a positive correlation with IQ after controlling for age in univariate regression analyses (white matter, r = 0.71, P < .001; gray matter, r = 0.48, P = .03), while seizure variables did not correlate with IQ (P > .1). A multivariate regression showed that hemispheric white matter volume ipsilateral to the angioma was an independent predictor of IQ (R = 61, P = .006), which also showed a negative correlation with age (R = - 0.52, P = .022) but no correlation with gray matter volumes. CONCLUSIONS: Early hemispheric white matter loss may play a major role in cognitive impairment in children with Sturge-Weber syndrome. Future therapeutic approaches should aim at preserving white matter integrity in addition to seizure control to improve cognitive outcome.     

Widespread Functional Deficits in Perception-Related Networks Demonstrated by PET in a Case with Simple Visual Seizures

Summary: Purpose : To study benzodiazepine receptor (BZR) density and functional deficits in occipital lobe epilepsy.
Methods : A 39-year-old man who had simple partial visual seizures after neurosurgical transtentorial extirpation of a pine-aloma was studied by EEG, magnetic resonance imaging (MRI), and positron emission tomography (PET) of [¹⁸F]2-fluoro-2-deoxy-D-glucose (FDG) at rest and during visual activation task and [¹¹C]flumazenil (FMZ).
Results : Electroencephalographic recordings were nonspecific, and MRI did not reveal any morphologic anomaly in the occipital lobe. Flumazenil-PET demonstrated a small epileptogenic region in the right visual association cortex and FDG-PET showed hypometabolism in a corresponding location and thalamic diaschisis. Stimulation of occipital metabolism by a continuous visual recognition task improved significantly the contrast between the dysfunctional zone and its surround.
Conclusions : As BZR deficits are restricted to a small region, widespread hypometabolism in networks involved in visual information processing indicates an extensive functional deactivation by the epileptogenic focus.     

Epilepsy with bilateral occipital calcifications: a benign onset with progressive severity

We studied four patients with a focal epilepsy and bilateral occipital corticosubcortical calcifications without any sign of phakomatosis. The clinical course of the disease was similar in all the patients and evolved from a benign onset to a severe encephalopathy with progressive mental impairment. The question of whether these patients have an incomplete and atypical form of Sturge-Weber syndrome or a previously undescribed disorder is addressed.