儿童下丘脑错构瘤的MRI诊断

目的：探讨MRI对儿童下丘脑错构瘤的诊断价值，从而提高对该疾病的MRI表现与临床症状的认识。材料和方法：回顾性分析6例儿童下丘脑错构瘤的临床资料和MRI表现，其中男性为4人，女性为2人。最小年龄为4个月，最大年龄为3岁4个月。结果：下丘脑错构瘤特征临床症状为性早熟，MRI表现为鞍下丘脑区异常信号，其中直径＜10mm者为3个，10－15mm者为1人，大于15mm者为2人。T1WI及T2WI信号均与脑灰质一致，且信号非常均匀，增强后结节均无强化。结论：下丘脑错构瘤是导致儿童性早熟的重要原因之一，结合患儿特征性临床表现为MRI表现，MRI能作出该病的明确诊断，无需病理诊断。     

Neuromuscular hamartoma of the internal auditory canal

We describe the clinical presentation and surgical findings of a 42-year-old man who was found to have unilateral sensorineural deafness due to a hamartoma of the internal auditory canal.     

儿童下丘脑错构瘤导致癫痫的手术治疗

目的 探讨儿童下丘脑错构瘤导致癫痫的手术治疗。方法 报告儿童下丘脑错构瘤11例，男6例，女5例，年龄为2-15岁，发病年龄为2个月至14岁。首发症状为痴笑样癫痫者10例。为癫痫大发作者1例，伴发性早熟6例，伴发跌倒发作3例，伴发癫痫大发作6例。手术；翼点入路10例，终板入路1例，术中错构瘤深部电极检测4例。结果 全切错构瘤2例，大部切除8例，部分切除1例。术中错构瘤深部电极显示棘波1例。随诊19至90个月，痊愈2例，有效9例，术后一过性动眼神经麻痹3例。结论 手术切除错构瘤可有效治疗儿童下丘脑错构瘤导致的癫痫。     

Mammary hamartoma

For many years, mammary hamartoma was considered to be an under-diagnosed disease. However, with the increasing use of diagnostic procedures in breast tumors (mammography, ultrasound, fine needle aspiration cytology and core needle biopsy), diagnosis of this entity has increased. Mammary hamartomas normally manifest as painless, mobile, palpable lumps without adherence to skin or muscle. Mammography shows well-circumscribed tumors, separated from adjacent normal breast tissue. Macroscopically they are well-defined tumors, consisting of benign mammary glandular tissue, fibrous stroma and fat in variable proportions, sometimes with a pseudoencapulation. Because of the lack of cytological and architectural specificity of hamartomas, correlation between clinical manifestations, imaging techniques and histology is essential. This report describes a case of an 11-cm mammary hamartoma in a 46-year-old woman.     

Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review

Cowden syndrome is a rare, autosomal-dominant, multisystem disorder characterized by hamartomatous tissue overgrowth and an increased risk of breast, thyroid, and endometrial cancers. Most of the cases arise from germline mutations of the phosphatase and tensin homologue tumor suppressor gene. An association with colon cancer remains unproven but has been suggested in previous reports. We present the case of a 42-year-old man with colonic ganglioneuromatous polyps and an adjacent colonic adenoma giving rise to a signet-ring adenocarcinoma with lymph node metastases in the setting of Cowden syndrome. Although gastrointestinal polyps are a common feature of Cowden syndrome, reports of ganglioneuromatous polyps and malignant degeneration are rare. Cutaneous features of Cowden syndrome in our patient include "cobblestone" lesions of the tongue and oral mucosa, facial trichilemmomas, multiple acral keratoses, and a storiform collagenoma.     

Juvenile polyposis syndrome

Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer.The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34.Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes.Clinically,juven...     

Mucosal Schwann cell ＂Hamartoma＂： A new entity？

Schwannoma is a well-described, benign nerve sheath tumor of the soft tissue, but is rare in the gastrointestinal tract. Gastrointestinal schwannomas are often incidentally discovered as small polypoid intraluminal lesions. In this report, we describe the clinicopathologic and immunohistochemical features of a distinctive neural mucosal polyp composed of a diffuse cellular proliferation of uniform bland spindled cells in the lamina propria that entraps the colonic crypts. Immunohistochemical analysis revealed strong and diffuse positivity for the S-100 protein. To avoid confusion of these solitary colorectal polyps containing pure spindled Schwann cell proliferation in the lamina propria with neural lesions that have significant association with inherited syndromes, it is better to use the designation ＂mucosal Schwann hamartoma＂     

乳腺巨大错构瘤1例

正患者女,38岁,主因"发现右乳腺包块8年余,逐渐增大、并有隐疼感1年余"就诊。查体:右乳增大,于近外上象限触及约5.0cm×7.0cm椭圆形肿物,质地较软,边界清楚,无压痛,压之有囊性感,移动度大,与皮肤无粘连。X线片:右乳外上象限见巨大类椭圆形混合密度肿块影,以低密度为主,约     

下丘脑错构瘤的MR诊断与临床表现

目的：分析下丘脑错构瘤的MRI表现,探讨其临床表现、病理及MRI表现的关系,以提高对本病的认识。方法：回顾性分析了14例下丘脑错构瘤的MR及临床资料,其中男6例,女8例,年龄1～37岁。均进行了MR常规扫描和增强扫描,均经病理证实。结果：14例病灶中以宽基底附于第三脑室底部、灰结节和乳头体者6例,有＂蒂＂错构瘤6例,1例位于鞍背后方,1例异位于视交叉上方,所有病例均呈等T1WI信号,等或稍长T2WI信号,信号较均匀,边界较清晰。结节状或类圆形者9例,不规则形5例。直径〈15mm者10例,〉15mm者4例,最大直径2.9cm。2例有明显占位效应,向上压迫三脑室,向前压迫垂体柄或视交叉。结论：当患者出现性早熟和（或）痴笑样癫痫为主的临床表现,MRI显示灰结节和乳头体肿块并典型信号改变且无明显强化时,应首先考虑本病。     

肺错构瘤的多层螺旋CT诊断

目的分析肺错构瘤的CT表现,并提高其诊断准确性。方法 31例由病理证实的肺错构瘤患者均经16层螺旋CT胸部平扫与增强扫描。对所有患者肿瘤病灶的部位、形态、大小、数目及强化特征,进行了回顾性总结分析。结果 CT扫描证实,25例(81%)的错构瘤是肺内型,其中包括24例孤立型和1例多发型,4例合并周围型肺癌。另外6例(19%)的错构瘤是支气管腔内型。绝大多数(30/31)患者的肿瘤CT表现是以边缘光滑锐利的圆形或卵圆形、直径小于3 cm的肿块影为特征。此外,还可看到其他或多或少的伴发征象,诸如,规则的圆形或卵圆形结节(58%),不规则形结节(48%),软组织密度结节影(55%),钙化影(35%),以及脂肪密度影(13%)。在对比增强CT像上,所有错构瘤病灶均表现为轻度强化(强化值小于30 HU)。结论除钙化及脂肪密度外,边界清晰及增强后轻度强化是诊断肺内型错构瘤的重要依据。而支气管腔内结节出现钙化或脂肪密度则高度提示支气管腔内型错构瘤。