斯德奇-韦伯综合征伴局灶皮质发育不良Ⅱ A型一例临床及病理分析

目的 总结1例经病理确诊的斯德奇-韦伯综合征患者的临床、影像学特征及病理表现.方法 回顾性分析1例斯德奇-韦伯综合征患者的临床、影像学及病理资料,对切除标本行HE及免疫组织化学染色观察.结果 CT显示左侧额叶条索状钙化;MRI示左侧额叶萎缩,可见低信号沿脑回分布.病理学特点为软脑膜的血管瘤病,病变皮质下沿脑回呈带状分布的钙化灶,同时周围皮质排列构筑紊乱,局部见形态异常神经元散在分布,免疫组织化学显示形态异常神经元(神经元特异核抗原、微管相关蛋白2、神经纤维细丝蛋白、SMI32R阳性,符合局灶皮质发育不良ⅡA型的组织学改变.诊断为斯德奇-韦伯综合征伴有局灶皮质发育不良ⅡA型.结论 斯德奇-韦伯综合征可以伴有局灶皮质发育不良,局灶皮质发育不良是部分斯德奇-韦伯综合征的癫痫起源灶.术前诊断为斯德奇-韦伯综合征的患者需仔细评价其临床资料及影像学、脑电图资料,以确定癫痫的起源,从而完整切除癫痫灶,并在术后进行规范的病理分析,明确是否伴有局灶皮质发育不良.     

神经皮肤黑变病:一例报告并文献复习

目的 探讨神经皮肤黑变病的临床病理学特征,并复习相关文献.方法 与结果1例19岁男性患者,头面部、躯干、四肢皮肤弥漫或散在多发性黑色素痣.头部MRI检查显示左侧额叶内侧占位性病变伴出血.手术中可见局部蛛网膜散在黑色微小斑点,左侧额叶内侧皮质有3cm×4cm浅黑色病灶.光学显微镜观察肿瘤细胞呈"铺路石样"镶嵌排列,细胞质饱满、含大量色素,细胞核异型性明显,细胞形态呈多样,可见大而怪异的肿瘤细胞及多核瘤巨细胞向脑实质或血管周围间隙呈浸润性生长,伴出血.肿瘤细胞波形蛋白、S-100蛋白和人黑色素细胞瘤抗原45均表达阳性,Kj-67抗原标记指数<25%,胶质纤维酸性蛋白、神经丝蛋白、神经元特异性烯醇化酶和细胞角蛋白表达阴性.结论 神经皮肤黑变病为临床少见、发生于皮肤和脑膜的弥漫性或局灶性黑色素细胞增生性斑痣性错构瘤病.皮肤黑色素痣通常呈良性.而脑膜黑色素细胞则具有恶变潜能,患者预后不良,约50%患者于出现神经系统症状后3年内死亡.     

Dandy-Walker综合征1例报告并文献复习

Dandy-Walker综合征(DWS)又称Dandy-Walker畸形、Dandy-Walker囊肿、先天性第四脑室中、侧孔闭锁、后颅凹脑积水综合征,为罕见的先天性脑发育异常,从上个世纪初第一例报道至今,世界范围内仅有几百例相关报道,至2003年底国内文献报道总数约100例[1]。本文报告该病1例,并结合文献     

囊性脑膜血管瘤病临床病理观察及文献复习

目的总结囊性脑膜血管瘤病的临床病理学特征。方法分析1例经病理确诊的囊性脑膜血管瘤病患者的临床表现、影像学及病理学特征,并复习相关文献。结果患者男性,16岁,因"发作性肢体抽搐3个月余"入首都医科大学宣武医院;头颅MRI显示左侧额叶囊性占位,长T1长T2信号。于神经外科行额上回局部的扩大切除,病变切开后呈囊状,含无色半透明液体。术后病理检查显示脑组织局部皮质内血管数量增多,呈分支状,血管周围围绕增生的梭形细胞,呈同心圆排列,血管间散在胶质细胞及砂砾体样钙化,相邻白质多发囊腔形成。免疫组织化学染色显示:血管周围梭形细胞及囊壁波形蛋白阳性,网织纤维丰富。术后随访10个月,患者一般情况良好,无癫痫发作,影像复查肿瘤未见复发。结论囊性脑膜血管瘤病MRI呈囊性占位,病理检查可见典型脑膜血管瘤病结构及囊腔形成,手术切除,预后良好。     

神经皮肤黑变病合并部分性癫

目的讨论神经皮肤黑变病(NCM)合并部分性癫的手术治疗及效果。方法回顾性分析1例NCM合并癫病人的临床资料。皮质电极监测后,行颞极及颞叶新皮质部分切除术。结果术后脑组织病理提示:颞极见大量黑色素细胞,原发性脑膜黑色素细胞增生症。皮肤病理提示复合性色素痣。术后10个月无癫发作。Engel分级Ⅰ级。结论 NCM是癫的罕见原因,但手术治疗效果满意。致灶切除术是一种安全有效的治疗方法。     

脑膜恶性黑色素瘤病三例临床病理及神经影像学特点

目的 探讨脑膜恶性黑色素瘤病的临床、病理及神经影像学特点.方法 对我院收治的经病理确诊的3例脑膜恶性黑色素瘤病患者进行观察,总结其临床、脑脊液细胞学、神经影像学、脑膜组织病理等方面特点.结果 3例患者均以头痛起病,随后出现脑膜刺激征.其中1例皮肤有巨大黑色素痣,1例额部黑痣破溃经久不愈,另一例无皮肤及内脏黑色素瘤,为原发性.3例患者颅脑MRI强化后显示软脑膜及蛛网膜弥漫性较均匀强化并增厚.脑脊液可见大最的异形细胞.脑膜呈黑褐色或深棕色,光镜下肿瘤细胞呈多形性,核大而圆或呈不规则形,胞质丰富,核分裂象可见,胞质内黑色素颗粒聚集,细胞排列紊乱.免疫组织化学分析S-100蛋白、波形蛋白、黑色素瘤抗体HMB-45等胞质反应阳性.结论 脑膜恶性黑色素瘤病临床主要表现为头痛及脑膜刺激征,脑脊液可见大量的异形肿瘤细胞.脑膜病理见肿瘤细胞胞质内黑色素颗粒聚集、瘤细胞排列紊乱.颅脑强化MRI对该病的诊断具有一定价值.     

神经皮肤黑变病合并部分性癫疒间

目的：讨论神经皮肤黑变病（NCM）合并部分性癫疒间的手术治疗及效果。方法回顾性分析1例NCM合并癫疒间病人的临床资料。皮质电极监测后,行颞极及颞叶新皮质部分切除术。结果术后脑组织病理提示：颞极见大量黑色素细胞,原发性脑膜黑色素细胞增生症。皮肤病理提示复合性色素痣。术后10个月无癫疒间发作。Engel分级Ⅰ级。结论 NCM是癫疒间的罕见原因,但手术治疗效果满意。致疒间灶切除术是一种安全有效的治疗方法。     

弥漫性软脑膜胶质神经元肿瘤

目的探讨弥漫性软脑膜胶质神经元肿瘤的临床病理学和分子遗传学特征。方法与结果男性患儿,5岁9个月,临床表现为严重脑积水伴抽搐发作2次;头部MRI显示,双侧侧脑室明显增宽,提示脑积水,并出现双侧小脑上沟散在斑片样异常略高信号影;脊椎MRI显示,T5~7水平脊髓增粗,可见髓内异常略高信号影;增强扫描可见脑干表面、双侧小脑半球表面脑膜、全脊膜和部分硬脊膜、马尾神经增厚并强化征象。遂行胸髓病变探查切除术+椎管重建术,术中可见蛛网膜与软脊膜之间半透明胶冻样异常组织增生,堵塞蛛网膜下隙。组织学形态,低或中等密度的形态单一的少突胶质细胞样肿瘤细胞,在软脑膜内呈弥漫性或巢团样生长,未见坏死和核分裂象。免疫组织化学染色,肿瘤细胞胞核表达少突胶质细胞转录因子2,胞质表达突触素、微管相关蛋白-2和S-100蛋白,Ki-67抗原标记指数为4%~10%。荧光原位杂交显示单独1p杂合性缺失。最终诊断为弥漫性软脑膜胶质神经元肿瘤。患者共住院22 d,出院后3个月死亡。结论 2016年世界卫生组织中枢神经系统肿瘤分类第4版修订版新增弥漫性软脑膜胶质神经元肿瘤的诊断,但未予明确分级,目前国内尚无报道。由于该病较为少见且极易与其他中枢神经系统肿瘤和炎症性病变相混淆,因此组织学形态、免疫组织化学染色和分子遗传学特征显得尤为重要。     

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。     

成人Dandy-Walker畸形1例

1 临床资料 女,26岁,因阵发性头痛10 d入院.体格检查仅发现双侧霍夫曼征阳性,四肢腱反射稍弱.MRI示小脑下蚓部发育不良,小脑半球下半部缺失,颅后窝见一囊性信号灶,略呈膨胀性,局部枕骨受压而呈弧形外突,第三、四脑室及双侧侧脑室对称性扩大,无明显渗出征象（图1）.临床诊断：Dandy-Walker 畸形并脑积水.全麻下行囊肿切除术,加第四脑室正中孔、侧孔黏连松解术及中脑导水管成形术.术后行腰椎穿刺脑脊液置换2次,病人自觉症状消失.     

Ultrastructure of the wall of the Dandy-Walker cyst

Summary The ultrastructure of the wall of the Dandy-Walker cyst has been described rarely. A boy aged 2 years was confirmed clinically, neuroradiologically, and operatively as having a Dandy-Walker cyst in the posterior fossa. The cyst wall obtained during surgery consisted of an outer arachnoid cell layer, intermediate interwoven neuroglial strands, and an inner layer of cells which lacked the characteristic appearance of ependyma. An unusual finding was a small, buried island of ependymal cells in the intermediate layer of the neuroglial tissue. Ultrastructural study of the cyst wall provides a better understanding of the pathogenesis of the Dandy-Walker syndrome.     

Dandy-Walker cyst associated with occipital meningocele

Dandy-Walker cyst associated with occipital meningocele is very rare. Only 12 patients have been reported. We report a female infant with Dandy-Walker cyst and occipital meningocele whose diagnosis was suspected antenatally by in utero ultrasonography. At birth, head circumference was normal for 37 weeks gestation. She underwent surgical repair of the occipital meningocele immediately after birth. The post-operative course was uneventful until the sixth day of life when progressive enlargement of the head with progressive ventricular dilatation was recognized. Communication between the posterior fossa cyst and the occipital meningocele was confirmed neuroradiologically; the occipital meningocele may have compensated for the increased intracranial pressure in fetal life.     

Endoscopic management of posterior fossa arachnoid cyst in an adult: case report and technical note

The authors report a case of large arachnoid cysts of the posterior fossa treated by endoscopic surgery. A 40-year-old man was admitted with a 3-month history of headache and progressive gait imbalance, with no significant medical history. At the time of admission, neurological examination revealed no abnormalities except for tandem imbalance. Brain computerized tomography (CT) scan and magnetic resonance imaging (MRI) revealed a posterior fossa arachnoid cyst (PFAC) causing brain stem compression accompanied by hydrocephalus. The patient was treated by endoscopic fenestration of the cyst with a paramedian suboccipital transcortical approach. Postoperatively the patient's complaints showed improvement and he was discharged with no complications. Follow up MRI showed a decrease in the cyst's size and the hydrocephalus with decompression of the brain stem.     

Shah-Waardenburg syndrome and Dandy-Walker malformation: an autopsy report

Autopsy reports of individuals with Shah-Waardenburg syndrome are rare, and to the best of our knowledge, have never been reported in association with Dandy-Walker malformation. This report documents the autopsy findings of a 2.5-year-old boy with Shah-Waardenburg syndrome (Type IV Waardenburg syndrome) and a Dandy-Walker malformation. The patient had a past medical history of congenital deafness, skin and hair pigmentary disturbances, Hirschsprun disease and hydrocephalus. At autopsy, multiple patches of dermal and hair hypopigmentation were observed over the face, trunk, eyelashes and eyebrows. The brain had a small, underdeveloped anterior cerebellar vermis, bilateral atrophic cerebelli, a markedly dilated ventricular system and a large incomplete midline cerebellar cyst. The entire colon and much of the small bowel had been previously excised secondary to the Hirschsprung disease. This case expands the spectrum of pathologic findings in Shah-Waardenburg syndrome to include the Dandy-Walker malformation.     

Posterior fossa cysts: clinical,neuroradiological and surgical features

Various types of neuroimaging investigations were performed in 26 patients with posterior fossa cysts. The results were retrospectively analyzed to facilitate differential diagnosis and clarify indications for surgery. Four major findings were obtained in this study. First, posterior fossa intra-arachnoid cysts were encountered more frequently than expected and were found to be surgically treatable. Second, although IV ventricular cysts were categorized as Dandy-Walker malformation, Dandy-Walker variant, and persistent Blake's pouch in this study, the distinctions of neuroimaging findings between these three types are uncertain. Third, the diagnostic criteria for mega cisterna magna were established, and it was found be be a surgically untreatable condition. Finally, in cases with the following neuroimaging findings, surgery appears to be indicated: (1) occipital bossing or petrosal scalloping with distortion or obliteration of cerebrospinal fluid (CSF) cisterns of the posterior fossa; (2) compression and deformity of the brain surrounding the cyst; (3) radioisotope and/or computed tomography cisternographic findings suggestive of disturbance of intracystic CSF circulation; (4) a non-communicating cyst.     

Neurocutaneous Melanosis in Association with Dandy-Walker Complex with Extensive Intracerebral and Spinal Cord Involvement

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.     

Ultrasound-guided puncture of a Dandy-Walker cyst via the lateral and III ventricles

Since the Dandy-Walker syndrome was first described by Dandy and Blackfan, Taggart and Walker, the many variants of posterior fossa anomalies, the appropriate management of these malformations and the clinical outcome have been the subjects of controversy. Surgery of the posterior fossa with membrane excision was initially the preferred method of treatment. Unfortunately, there was a high rate of complications, and many of the patients treated in this way still needed a shunting system. Ventricular-peritoneal and/or cysto-peritoneal shunting is commonly used to treat symptomatic posterior fossa cysts of Dandy-Walker malformations and hydrocephalus. Cysto-peritoneal shunt implantation only was associated with a high rate of complications, and most patients so treated needed a ventriculo-peritoneal shunt in addition. According to the literature, combined ventriculo-peritoneal and cysto-peritoneal shunting is needed for satisfactory decompression of Dandy-Walker cyst and hydrocephalus in between 16% and 92% of cases. We report on a young patient with a Dandy-Walker malformation who needed drainage of the posterior fossa and a ventricular shunt. We decided to drain the cyst and the supratentorial ventricles via a single, especially prepared, catheter with many perforations. The catheter was inserted under ultrasound guidance. The tube was inserted from the left lateral ventricle through the foramen of Monro into the III ventricle and downwards into the cyst. Intraoperatively, an immediate decrease in the size of the cyst and the supratentorial ventricles was observed. Postoperative MRI confirmed the exact position of the catheter and sufficient drainage of the posterior fossa cyst and the ventricles. Six months later the girl was seen in our outpatient department. Clinical examination showed no neurological deficit, and MRI demonstrated sufficient drainage of the ventricles and the Dandy-Walker malformation, and in addition hypoplasia of the corpus callosum. Received: 31 March 1999     

Trigeminal neuralgia in a patient with Dandy-Walker malformation.

BACKGROUND: Trigeminal neuralgia may be idiopathic or secondary to a number of cranial pathologies. We report a novel case of trigeminal neuralgia associated with Dandy-Walker malformation, which may be an etiologic factor. CASE DESCRIPTION: A 32-year-old male presented with shock-like pain in the somatosensory distribution of the right trigeminal nerve, which was refractory to all medication. MRI revealed a cystic lesion in the posterior fossa and a hypoplastic vermis. The pain was diagnosed as trigeminal neuralgia and was thought to be secondary to the Dandy-Walker malformation. The trigeminal neuralgia was treated successfully with radiofrequency thermocoagulation rhizotomy (RF-TR). CONCLUSION: Trigeminal neuralgia may be associated with Dandy-Walker malformation, however an etiological relationship is not proven. We suggest that traction on the trigeminal nerve may be significant. The posterior fossa cyst of Dandy-Walker malformation may be a complicating factor when considering microvascular decompression to treat the trigeminal neuralgia. Collapse of the cyst at surgery may destabilize the posterior fossa and further deform the trigeminal nerve. We suggest that RF-TR, which is minimally invasive and reliable, may be preferable.     

Holoprosencephaly with Dandy-Walker cyst

A case of holoprosencephaly associated with Dandy-Walker cyst is reported. The patient was a male baby whose mother had normal serum titers for toxoplasma, syphilis, rubella and hepatitis B. She had no history of dibbetes mellitus, administration of drugs or irradiation during the pregnancy. At the 8th month of gestation, fetal hydrocephalus was diagnosed by ultrasonic imaging. He was delivered by caesarean section at 34 weeks and 4 days, weighing 2,644 g. His head circumference was 42 cm; the anterior fontanel was not distended and its tension was normal. The chromosomal karyotype was a normal 46 XY. X-ray CT showed a large dorsal sac cyst in the supratentorial space and a hypoplastic cerebellum with a large cyst in the posterior fossa. He received a cyst-peritoneal shunt 24 days after birth. After this procedure, his head enlargement was arrested. We discuss the etiology of this rare coexistence of two major malformations.     

Primary intracranial squamous cell carcinoma arising in an epidermoid cyst--a case report and review of literature

Primary intracranial squamous cell carcinoma is extremely rare, with most of the cases arising from malignant transformation of an epidermoid or a dermoid cyst. We report here a case of a 45-year-old male patient who presented with 1-month history of intermittent headache and recent onset of altered sensorium. Imaging revealed a midline posterior fossa mass lesion compressing the fourth ventricle and causing hydrocephalus. A provisional diagnosis of dermoid cyst was considered. Histopathological examination revealed a squamous cell carcinoma possibly arising from an underlying epidermoid cyst. This entity is being reported for its rarity.