Single photon emission computed tomography of the brain in Sturge-Weber syndrome using N-isopropyl-p-[123I] iodoamphetamine--a comparative study with X-ray computed tomography

Single photon emission computed tomography (SPECT) of the brain using N-isopropyl-p-[123I] iodoamphetamine (123I-IMP) was performed in 11 children with port wine stain on the face or head, aged 1.0-14.2 years at investigation. Four cases without neurologic symptoms had no specific abnormality on SPECT and X-ray computed tomography (CT). In 4 cases of so-called Sturge-Weber syndrome with developmental quotients (DQ) or intelligence quotients (IQ) more than 80 and the neurologic symptoms consisting of seizures and hemiplegia, SPECT showed localized reduction of IMP accumulation, and CT exhibited calcification, atrophy and enhancement in 2 cases of 3 with contrast medium infusion in the same areas. In 3 cases with DQ of 50-60 and severer neurologic symptoms, SPECT showed diffuse reduction or defect of IMP accumulation in the ipsilateral hemisphere, and CT exhibited remarkable atrophy, calcifications and enhancement in 2 cases with contrast medium infusion in the same hemisphere. In one case with severe neurologic symptoms, SPECT performed at an early stage showed high IMP accumulation in the ipsilateral hemisphere.     

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.     

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.     

Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.

Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified.     

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.     

Clinical implication of cerebral artery calcification on brain CT

BACKGROUND AND PURPOSE: Arterial calcification is a process of atherosclerosis, usually taking place within advanced atheromatous plaque. In the coronary arteries, calcification seen on computed tomography (CT) often indicates severe stenosis, and is noted in almost all patients with coronary symptoms. Calcification of the cerebral arteries is also frequently observed on brain CT, but its clinical significance has yet to be clarified. To evaluate the clinical significance of cerebral arterial calcification on brain CT, we investigated the angiographic and transcranial Doppler ultrasonography (TCD) findings of calcified cerebral arteries. METHODS: The subjects were 57 patients with ischemic stroke, all of whom underwent brain CT, digital subtraction cerebral angiography and TCD. Stroke subtypes were defined according to TOAST classification. Two clinicians who were blinded in respect to the patients' clinical history and to each other's interpretation, determined the presence of cerebral arterial calcification and the degree of angiographic stenosis. RESULTS: Cerebral artery calcification was noted in 23 patients (40%) out of a total of 46 arteries, consisting of 23 internal carotid, 15 vertebral, 5 basilar, 2 middle cerebral and 1 anterior cerebral artery. The patients with calcification were significantly older and more hypertensive than those without calcification. All the patients with calcification showed either large artery atherosclerosis or lacunar stroke. Hemodynamic alterations measured by TCD were rarely observed in calcified arteries. The severity and extent of the atherosclerotic changes were significantly greater in the patients with calcification than those without calcification. CONCLUSION: These results suggest that cerebral arterial calcification does not directly indicate hemodynamically significant atherosclerotic stenosis involving calcified segments, but indicates the underlying etiology of either large artery atherosclerosis or lacunar stroke, and raises the possibility of a diffuse atherosclerotic process being present in the cerebral circulation.     

MRI in Sturge-Weber syndrome.

Five children (3 girls, 2 boys, aged from 1 to 18 years) presenting with Sturge-Weber syndrome were explored by MRI with contrast injection in 2 cases. The respective positions of CT and MRI are discussed: CT is the method of choice to display leptomeningeal calcifications. MRI seems to be more accurate than CT to determine the location of the lesions and to demonstrate the enhancement of the angioma after contrast injection.     

Epilepsy and bilateral occipital calcifications: 3 cases

We report 3 cases of epilepsy with bilateral occipital calcifications followed up for several years. These cases were compared with 21 published cases and were found to differ from the classical Sturge-Weber syndrome on several points: 1) the disease appeared around the age of 5 years and consisted of focal epilepsy without neurological or mental disorders; 2) the epilepsy was easy to control during 2 to 5 years. This was followed by a diffuse encephalopathy with severe, treatment-resistant epilepsy, Gerstmann's syndrome, optic ataxia, cerebellar syndrome and slow activity at EEG. It appears from these 3 cases that: 1) occipital calcifications may be unilateral at the onset of the disease; 2) visual evoked potentials are affected at a late stage, and 3) CT scans are of considerable value in the prognosis of benign epilepsy in childhood.     

A case of leukoencephalopathy, cerebral calcifications and cysts

Triad of leukoencephalopathy, cerebral calcifications and cysts (LCC) is a recently reported rare disease named ‘Labrune syndrome’ after the first case was reported in 1996 by Labrune et al. Herein, we report a case of a 36-year-old man with mild right-sided weakness and seizures for 5 years. CT of brain revealed extensive calcification involving bilateral basal ganglia, right thalamus and bilateral deep cerebellar nuclei. A supratentorial cystic lesion with blood fluid level was seen in left occipitotemporal region. MRI examination revealed diffuse symmetric white matter hyperintensity suggesting leukoencephalopathy. On follow-up, patient reported improvement in the weakness and no further seizure episodes. However, follow-up of MRI revealed persistence of lesions. Differential diagnosis considered were parasitic infections (hydatid, cysticercosis), Coat''s plus disease and causes of diffuse cerebral calcification like Fahr''s disease and post-radiotherapy/chemotherapy. Serology for parasitic infections was negative. No history of radiotherapy or chemotherapy in the past could be elicited in the history. Another close differential is Coat''s plus disease which can mimic LCC pathologically.     

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.     

Regional cerebral blood flow by SPECT imaging in Sturge-Weber disease: an aid for diagnosis.

Regional cerebral blood flow (rCBF) was studied using SPECT (single photon emission computed tomography) with 133-Xenon in 13 patients with confirmed Sturge-Weber disease, aged 9 months to 18 years. CT scan, performed at the same time, showed evident cerebral angioma in 10 but not in three. A marked hypoperfused area was found in all patients, ranging from -32% to -72% and of the same location as the CT signs. The hypoperfusion seems to result from post ictal phenomenon as well as from chronic ischaemia. SPECT imaging is therefore a sensitive method for visualising intracranial angioma in Sturge-Weber disease and it provides an aid for diagnosis when a CT scan is not reliable.     

Bilateral optic neuropathy associated with diffuse cerebral angiomatosis in Sturge-Weber syndrome.

Visual loss in patients with encephalotrigeminal angiomatosis or Sturge-Weber syndrome usually results from secondary glaucoma or from damage to the retrogeniculate pathways by the angiomatous lesions. Optic neuropathy has not been reported as a component of this syndrome. This report describes a patient who developed bilateral optic neuropathy with progressive visual loss associated with diffuse cerebral angiomatosis in the setting of Sturge-Weber syndrome.     

原发性颅内绒毛膜癌的影像学表现

目的总结原发性颅内绒毛膜癌(PICCC)的影像学表现,以提高该病影像诊断的正确率。方法回顾性分析经穿刺或手术病理证实的4例PICCC的CT和MRI影像学表现,包括分布和形态、密度、信号特点和强化特征。结果1例PICCC位于松果体区,1例位于鞍上,1例位于基底节区,1例沿侧脑室旁分布。CT平扫以高密度为主,CT值为45~65 HU,病灶内可见钙化和出血,增强扫描呈中等程度或明显强化。MRI平扫呈混杂信号,3例T1WI呈等低信号,1例呈高信号;T2WI呈低信号为主的混杂信号。增强扫描2例呈明显不均匀强化,2例呈花环状强化,1例伴室管膜明显强化。结论PICCC好发于青少年,易合并瘤内出血和钙化,结合血清β-HCG水平升高和临床症状,术前应考虑到PICCC的可能。     

Diffuse encephalic calcification. A case report.

The basal ganglia calcification is known since the last century but with the new neuroimage techniques (CT scan) its diagnosis became more frequent specially in asymptomatic patients. The authors report a case with non-familial primary diffuse encephalic calcification with exuberant calcifications on cerebral hemispheres, cerebellum and brain stem, seen on CT scan.     

A case of diffuse neurofibrillary tangles with calcification

We report a 79-year-old female with atypical senile dementia with Fahr-type calcification. The patient started to show memory disturbance at the age of 75 years, followed by visual hallucination, stereotypy, personality changes such as irritability, aggression and disinhibition. Brain computed tomography (CT) demonstrated bilateral and symmetric calcification of the basal ganglia and thalamus. Magnetic resonance imaging (MRI) revealed diffuse cortical atrophy pronounced in the fronto-temporal areas. On MRI T1-weighted images the calcified areas showed a mixture of low- and high-intensity signals. Based on the overlapping clinical symptoms of Alzheimer's disease and Pick's disease, together with the brain CT and MRI findings, we clinically diagnosed the patient as having 'diffuse neurofibrillary tangles with calcification' (DNTC). The characteristics of psychiatric symptoms and neuroradiological findings in DNTC are discussed.     

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。     

CT scanning and diagnosis of adrenoleukodystrophy

On computerized tomography scanning, two patients with adrenoleukodystrophy had low-density abnormalities in the parieto-occipital lobes, which enhanced anteriorly with contrast infusion. Computerized tomographic correlation with the published pathology is discussed. CT scanning may be an important diagnostic procedure in the early diagnosis of adrenoleukodystrophy.     

Clinical outcomes in bilateral Sturge-Weber syndrome

Approximately 15% of patients with Sturge-Weber syndrome demonstrate bilateral intracranial involvement, and the prognosis of these patients is considered particularly unfavorable. We reviewed the clinical and neuroimaging features of patients with Sturge-Weber syndrome and bilateral intracranial involvement. Seizure variables, the presence of hemiparesis, and the degree of developmental impairment at most recent follow-up were compared with imaging abnormalities. Of 110 Sturge-Weber syndrome patients, 14 demonstrated bilateral brain involvement, with an asymmetric pattern on glucose metabolism positron emission tomography. Although most patients manifested frequent seizures initially, associated with frontal hypometabolism on positron emission tomography, six (43%) had achieved good seizure control during follow-up. Bilateral frontal hypometabolism was associated with severe developmental impairment. Two children with bitemporal hypometabolism exhibited autistic features. Hemiparesis was associated with superior frontal (motor cortex) hypometabolism. Three patients underwent resective surgery, resulting in improved seizure control and developmental outcomes. The severity of neurologic complications and clinical course depend on the extent of cortical dysfunction in bilateral Sturge-Weber syndrome. Bilateral frontal and temporal hypometabolism is associated with poor developmental outcomes. Good seizure control and only mild/moderate developmental impairment can be achieved in about 50% of patients with bilateral Sturge-Weber syndrome, with or without resective surgery.     

Bilateral cortical calcifications with benign clinical course: an unusual case of Sturge-Weber syndrome?

A case of a 13-year-old girl with bilateral cortical calcifications of the Sturge-Weber type at CT examination, without cutaneous lesions and ocular abnormalities is described. She had seizures appearing within the first year of life which never recurred since the age of two years. At the age of ten years she began to suffer from occasional migraine attacks. Her neurological examination and psychological testing did not show any significant abnormality. This case can be regarded as an unusual atypical form of Sturge-Weber syndrome, unless the existence of a new disorder is assumed.