儿童Sturge-Weber综合征27例临床及影像学特征分析

【摘要】 目的 分析儿童Sturge-Weber 综合征的临床及影像学特征。方法 回顾性分析徐州医科大学附属徐州儿童医院2013年7月至2019年12月诊治的27例儿童Sturge-Weber 综合征患者的临床资料。结果 27例患儿中，男17例，女10例，就诊年龄2 d至10岁7个月，平均2.54岁。27例均有面部鲜红斑痣，皮损分布跨越面部中线位置，淡红色至紫红色不等，其中偏侧优势分布者21例，双侧对称分布者6例。17例患儿合并眼脉络膜血管畸形，其中先天性青光眼14例，眼压高5例，视神经萎缩伴短暂性失明1例。神经系统损害主要临床表现为癫痫，12例。27例均行影像学检查，其中20例发现异常：计算机断层扫描检查结果异常的10例中8例有局部钙化灶，8例皮损侧颅骨局部增厚；核磁共振平扫检查结果异常的14例中13例有脑萎缩征象；9例核磁共振增强检查提示脑回样强化血管影；5例核磁共振血管造影提示患侧大脑前中动脉分支减少等异常征象。结论 Sturge-Weber 综合征患儿以面部鲜红斑痣偏侧优势分布为主要临床特征，部分伴有癫痫、青光眼或智力低下，影像学检查提示局部钙化灶、脑萎缩、局部颅骨板障增厚、脑回样强化血管影等异常，需早期明确诊断后系统综合治疗，降低致残率及致死率，并长期随访。     

儿童色素血管性斑痣性错构瘤病18例临床分析

目的:探讨儿童色素血管性斑痣性错构瘤病(phakomatosis pigmentovascularis,PPV)的临床特征。方法:对临床确诊的18例儿童PPV的资料进行回顾性总结,分析其临床特点、分型及治疗随访情况。结果:男女均可发病,以女性患儿多见,平均年龄2.8岁。鲜红斑痣是最常见的血管性改变,太田痣并发蒙古斑为最常见的色素性改变,血管和色素的嵌合为棋盘样模式。根据最新的Happle分型方法分类,Cesioflanmea型17例,Melanorosea型1例。8例患儿有系统受累。3例患儿的面部皮损行激光治疗,疗效显著。结论:儿童PPV应全面体检和长期随访,血管和色素性皮损可尽早行激光治疗。     

儿童狼疮性脑病19例临床分析

目的:观察儿童狼疮性脑病(NPSLE)的临床特点。方法:收集总结我院19例NPSLE患儿的临床资料(病史、查体、辅助检查、治疗等)进行分析。结果:7例患儿首诊时以神经精神症状为主要表现,12例患儿出现NPSLE前有不同病程的SLE病史。NPSLE患儿中癫痫症状发生频率最高(7例)。均出现狼疮活动的指标(如血沉加快,补体C3、C4下降)。6例患儿行头颅MRI检查,均有阳性发现。大剂量糖皮质激素、丙种球蛋白冲击联合免疫抑制剂以及血液净化等综合治疗为NPSLE有效治疗方法。结论:NPSLE可发生于儿童。癫痫在NPSLE患儿中发生率高,是SLE致死主要原因之一。脑脊液(CSF)、电子计算机断层扫描(CT)、磁共振(MRI)、脑电图(EEG)等联合检查有助于NPSLE的早期诊断。对NPSLE应采取个体化综合治疗。     

儿童斯特奇-韦伯综合征计算机断层扫描与磁共振成像对照研究

目的:回顾性分析36例3 d～11岁斯特奇-韦伯综合征(SWS)患儿计算机断层扫描(CT)和磁共振成像(MRI)影像学表现。方法:收集该院36例SWS患儿,其中34例予CT扫描,29例予MRI检查,27例同时予CT及MRI检查。其中CT增强扫描1例,MRI增强扫描3例。结果:36例患儿中19例并发面部血管瘤。4例病变累及双侧大脑半球,其余32例均为单侧发病。(1)CT表现为灰、白质分界不清的稍高密度灶者8例;病变脑叶内磨砂样及斑点状钙化者3例;病灶斑片状及线样钙化者8例,典型脑回样钙化者13例;上述32例病变区域均伴有不同程度脑萎缩。CT扫描未见明显异常者1例;CT增强扫描1例示病变区域脑表面软脑膜弥漫样强化。(2)MRI表现为病变区域不同程度脑萎缩,其中26例T2加权像(T2WI)表现为灰、白质分界不清的低或稍低信号(其中漏诊1例),3例T2WI表现为斑点状稍高信号。脉络丛扩大12例,14例可观察到颅板下、中线旁、患侧脑室旁的血管流空信号。3例增强扫描表现为沿皮层走行软脑膜弥漫样强化。(3)27例患儿同时予CT与MRI检查结果:CT结果阴性患儿MRI示T2WI表现为典型灰、白质分界不清的低或稍低信号;MRI漏诊患儿1例,CT上病变区表现为斑片状钙化。结论:CT和MRI检查对SWS诊断提供了重要的影像学诊断依据,都具有较为典型的影像学表现,CT与MRI联合应用可以相互补充,提供更多及更加准确的影像学信息,协助临床对SWS诊断;增强检查可明确诊断并确定病变范围。     

皮肌炎磁共振成像诊断及其临床意义

皮肌炎 (DM)是一种皮肤和肌肉的弥漫性炎性疾病,临床表现多样,症状轻重不一,早期诊断时有困难。鉴于磁共振成像 (MRI)对软组织及其炎症有很好的分辨率,且可任意平面成像。为此我们对 18例早期 DM(包括 1例重叠综合征 SLE＋ DM)患者髋部和大腿肌肉进行了 MRI检查,以探讨 MRI在 DM中的应用价值。 一、病例和方法 (一 )检查对象： 18例中男 5例、女 13例,年龄 10～ 69岁,平均 38.9岁;病期 1个月至 1年,中位数 5个月;其中 13例于检查前未经治疗。临床表现：眶周或上眼睑红斑 15例,蝶形或鼻根部红斑 4例,头、面、颈弥漫性…     

色素血管性斑痣性错构瘤病1例

色素血管性斑痣性错构瘤病(phakomatosis pigmentovascularsis)是一种少见的先天性色素性血管异常皮肤病,我科诊断1例,现报告如下. 患儿男,6个月.因面部、躯干及上下肢大片色素性斑疹6个月,于2011年6月来我科就诊.患儿出生时即见双耳后、双肩臂、左上肢外侧及腰骶部青灰色斑片,双上肢、胸背部、左腹及左下肢大片红斑,4个月时额部及双侧巩膜开始出现蓝斑,发病以来无不适症状,无癫(癎)发作史.患儿足月顺产,其母孕期第1周曾行脑CT检查1次,否认父母及家族成员有类似病史,父母非近亲结婚.     

CDU技术检测阳痿患者阴茎血流动力学179例

目的:分析彩色多普勒超声诊断技术(CDU)检测、评估阳痿(ED)患者阴茎血流动力学(Penilehemodynam ics:PHD)的超声表现,探讨影响此评估方法准确性的几个值得注意的客观因素.方法:选择179例 ED患者经药物诱导勃起后行 CDU检查海绵体动脉血流指标,包括收缩期最大流速(PSV)、动脉舒张末期血流速度(EDV)、阻力指数(RI).结果:非血管性 ED123例(68.7%),动脉性 ED21例(11.7%),静脉性 ED35例(19.6%).结论:CDU检测 ED患者PHD状态,可为临床提供较为可靠的阴茎血管性病变依据.     

反射式共聚焦显微镜在儿童毛发上皮瘤的诊断价值

目的 总结儿童毛发上皮瘤在反射式共聚焦显微镜(RCM)下图像特征,探讨RCM的诊断价值.方法 选择临床拟诊为毛发上皮瘤患儿15例,行RCM及组织病理学检查.结果 经RCM及组织病理学检查证实,15例患儿中毛发上皮瘤13例,传染性软疣1例,汗管瘤1例.13例确诊为毛发上皮瘤患儿RCM表现:表皮大致正常,真皮浅层见瘤体团块...     

新生儿Kasabach-Merritt综合征1例并文献复习

患儿男,生后1天,出生即发现右侧大腿有一巨大暗红色包块,实验室检查提示血小板减少、低纤维蛋白原血症,彩超提示血管性病变,诊断为Kasabach-Merritt综合征。急性期静脉应用糖皮质激素、长春新碱,后期辅以静滴、局部注射干扰素的序贯内科治疗,治疗2周后血小板及凝血功能恢复正常,总疗程1年4个月,瘤体全部消失,目前遗留皮肤松弛、色素沉着。     

双波长激光治疗皮肤血管瘤和脉管畸形的临床疗效观察

目的观察双波长激光在临床皮肤血管性病变治疗中的安全性、有效性。方法选用临床应用双波长激光进行治疗的皮肤血管性患儿436例,依据不同病变类型分类统计其有效率,记录其不良反应。结果采用双波长激光治疗血管性病变按类型划分有效率为蜘蛛痣92.94%,单纯性血管瘤84.97%,鲜红斑痣77.78%,毛细血管扩张83.33%,术后不良反应不明显。结论双波长激光能够有效解决婴幼儿单纯性血管瘤、鲜红斑痣、蜘蛛痣及毛细血管扩张等血管性病变,且不良反应率低,具有较高的临床使用价值。     

外用西罗莫司治疗儿童浅表脉管畸形19例的临床疗效及安全性分析

目的:研究外用西罗莫司乳膏治疗儿童浅表脉管畸形的有效性与安全性。方法:采用单中心前瞻性设计,纳入2019年9月至2020年9月就诊于首都医科大学附属北京儿童医院皮肤科脉管性疾病专业门诊的浅表脉管畸形患儿,予0.1%西罗莫司乳膏外用,通过影像学、皮肤镜、主观评定等指标,根据国际通用四级分类法评估疗效,同时监测用药期间的不...     

A Significant Proportion of Children with Morphea En Coup De Sabre and Parry‐Romberg Syndrome Have Neuroimaging Findings

En coup de sabre (ECDS) and Parry‐Romberg syndrome (PRS) are variants of linear morphea on the head and neck that can be associated with neurologic manifestations. Intracranial abnormalities on computed tomography (CT) and magnetic resonance imaging (MRI) are present in a significant proportion of individuals with these conditions. We describe 32 children from our institution with ECDS or PRS; neuroimaging was performed in 21 cases. We also review 51 additional cases from the literature. Nineteen percent of the children at our institution with ECDS or PRS had intracranial abnormalities on MRI, half of whom were asymptomatic. Hyperintensities on T2‐weighted sequences were the most common finding, present in all children with intracranial abnormalities on MRI. Seizures (13%) and headaches (9%) were the most common neurologic symptom. Neurologic symptoms were not correlated with neuroimaging abnormalities, with two asymptomatic children having marked MRI findings and only two of nine symptomatic children having an abnormal MRI. Similarly the severity of the superficial disease did not predict neurologic involvement; a child with subtle skin involvement had striking MRI findings and seizures, whereas another with a bony defect had no brain parenchymal involvement. Neurologic symptoms and neuroimaging abnormalities are found in a surprisingly substantial percentage of children with ECDS and PRS. Early recognition of neurologic involvement is necessary because it affects treatment choices. Because clinical predictors of intracranial abnormalities are poor, strong consideration should be given to obtaining an MRI before treatment initiation to assist in management decisions and establish a baseline examination.     

Lymphatic malformations: clinical course and management in 64 cases

Background: Lymphatic malformations (LM) are rare vascular malformations. Objectives: To define the clinical characteristics of children with LM and their management. Methods: We performed a retrospective chart review of children with LM and telephone interviews with parents. Demographic and clinical features, diagnostic imaging, treatments and complications were recorded. Results: Thirty male and 34 female patients with LM were identified. The anatomic location of the LM was most frequently the head and neck (48%). LM involved the left side of the body more frequently (62%). Children presented most commonly with swelling as skin coloured tumours or cysts, and less frequently with hemihypertrophy, bruising, and superficial pseudo‐vesicles. Most LM were macrocystic (60%), followed by microcystic (24%) and mixed (16%). The mean age at diagnosis was 37 months, with 51% of LM obvious at birth. LM caused morbidity in 70% of cases and death in one child. Treatments were sclerotherapy with sodium tetradecyl sulfate 3% (30.5%), OK‐432 (17%) and doxycycline (10%); 27% received surgery; 34 % had no treatment. Conclusions: LM are heterogenous vascular malformations that may result in significant morbidity. Diagnosis is often delayed. A multidisciplinary approach to management including dermatology, diagnostic and interventional radiology and paediatric surgery is important.     

常规磁共振成像与三维磁共振波谱对前列腺特异性抗原灰区患者鉴别诊断价值研究

目的:探讨常规磁共振成像(magnetic resonance imaging,MRI)联合三维磁共振波谱(magnetic resonance spectroscopy,MRS)成像对PSA灰区患者在前列腺癌与BPH的鉴别价值。方法:回顾性分析25例经病理证实的前列腺癌、20例前列腺增生PSA灰区患者进行MRI及MRS检查。MRS成像计算(cho+cre)/Cit的比值,比值大于0.99为前列腺癌的可疑波谱,将病灶的多体素取平均值,并与病理及其他磁共振方法进行对照。结果:MRI确诊率77.8%,MRS确诊率86.7%,MRI联合MRS确诊率95.6%。结论:MRI联合MRS用于临床诊断PSA范围在4~10ng/mL的患者,可以提高前列腺疾病的诊断率,但还需要前列腺活检以确定诊断。     

Angiomatosis with angiokeratoma-like features in children: a light microscopic and immunophenotypic examination of four cases.

We have identified three patients with an initial clinical or biopsy diagnosis of angiokeratoma, all of whom were found to have a more extensive vascular lesion within the surgical excision. A fourth patient with identical histologic findings had no specified clinical diagnosis and his first procedure was excisional. The patients ranged in age from 7 to 16 years, and the lesions were located on the buttock, thigh, calf, and foot. Macroscopic appearances included mildly keratotic pink-red or blue-grey macules (three cases) and pink macules with focal ulceration (one case). In three of the four cases, a shave biopsy diagnosis of angiokeratoma had been made, and the extensive and deeply infiltrative nature of the vascular proliferation was recognized only at subsequent resection, at which point angiomatosis was diagnosed. In the fourth case. excisional biopsy was attempted at presentation, and the superficial morphology was angiokeratoma-like, but the vascular proliferation was present in the deep subcutaneous fat. CD31 and CD34 reactivity was present in the superficial and deep vessels in all cases, and lesional vessels were rimmed by a bland population of smooth muscle actin positive pericytes, findings that differentiate these cases from angiokeratoma, which has previously been reported to be CD34 negative. We conclude that the dilated vascular spaces that typify angiokeratoma may also be seen overlying a deep vasoformative process that is not amenable to resection, and suggest that caution should be exercised in evaluating small biopsies with angiokeratoma-like appearance.     

儿童常见丘疹性疾病反射式共聚焦显微镜图像特征分析

目的 探讨反射式共聚焦显微镜（RCM）在儿童常见丘疹性疾病（光泽苔藓、扁平疣、线状苔藓、粟丘疹、传染性软疣、毛发苔藓）中的临床应用价值。方法 收集579例以丘疹为临床表现的门诊儿童病例,利用RCM分别观察皮损处及皮损周边正常皮肤的镜下结构,分析总结6种丘疹性疾病RCM图像的基本特征及鉴别要点。结果 经RCM检测后确诊光泽苔藓236例,扁平疣70例,线状苔藓123例,粟丘疹40例,传染性软疣53例,毛发苔藓57例。6种疾病均具有典型RCM特征,光泽苔藓可见扩大的真皮乳头,内有致密炎细胞及噬色素细胞浸润;扁平疣的颗粒层及棘层细胞呈同心圆状排列,似玫瑰花团样;线状苔藓棘层灶性水肿,基底细胞无或局灶性液化变性,真皮浅层中等量炎细胞呈簇状分布;粟丘疹在真皮可见境界清晰的圆形或椭圆形结构,内含高折光物质,且内容物折光不均匀;传染性软疣在RCM下可见完整的囊腔样结构,内有较高折光的软疣小体;毛发苔藓的毛囊漏斗部扩张,可见中低折光的近似角质样物质。6种疾病RCM下鉴别要点在于连续纵扫下皮损部位的结构特征（模式、折光度）。结论 RCM在儿童丘疹性疾病的诊断中具有较高临床应用价值。     

Symplastic hemangioma developing over an infantile hemangioma during propranolol treatment

We describe a case of a 6‐month‐old female patient with a segmental, superficial, infantile hemangioma (IH) on the forehead being treated with propranolol 2 mg/kg/d for 5 months, who developed a symplastic hemangioma (SH) over the preexisting lesion, highlighting the need to consider SH in the differential diagnosis of vascular lesions arising over preexisting vascular anomalies in children.     

A fraction of deep vascular birthmarks are true deep hemangiomas of infancy

Background  Deeply-located vascular birthmarks have been traditionally regarded as being identical to a deep type of hemangioma of infancy (HOI). However, there is increasing evidence that some venous malformations also mimic these deep type of HOIs clinically. This study investigates how many, if not all, deep vascular birthmarks are deep type HOIs.
Methods  Nineteen cases were selected on the basis of the clinical features of deeply-located vascular birthmarks. Hematoxylin-eosin slides were reviewed and immunohistochemistries were performed using CD31, D2-40 and GLUT1 to confirm diagnoses before they were compared with the clinicoradiologic review by specialists other than dermatopathologists.
Results  Only 4 patients out of a total of 19 cases were strongly positive for GLUT1 staining and turned out to be true deep HOIs. The remaining were comprised of 6 venous malformations (31.6%), 3 lymphatic malformations (15.8%), 1 glomangioma (5.3%) and 5 tufted angiomas (26.3%).
Conclusion  It was demonstrated that all deeply-located vascular birthmarks are not true deep HOIs. It is recommended that diagnosis for HOI be carried out cautiously earlier in life using GLUT1 in addition to clinical features. This would help prevent patients from being misled by anticipating the spontaneous involution in all deeply-located vascular birthmarks.