Widespread osteolytic lesions of the long bones in basal cell nevus syndrome

Three members of a family, father, daughter, and son, with the basal cell nevus syndrome are presented. A very unusual manifestation of widespread cyst-like osteolytic lesions in all the tubular bones was observed in the father, together with osteoblastic spotty osteopoikilotic lesions in the skull and the mandible of the same patient. Cyst-like osteolytic lesions have been described previously in this syndrome, mainly in the phalanges. We believe that such lesions can occur in any bone.     

Fahr syndrome - an incidental finding in a patient with lymphocytic meningitis

Fahr syndrome is a rare condition mainly characterized by symmetric and bilateral calcification of basal ganglia and cerebellar nuclei. Herein, we report a case of a 67-year-old woman with a history of parathyroidectomy and Parkinsonism, who was admitted to hospital with suspected neuroinfection, and imaging features that were consistent with Fahr syndrome. The objective of this study is to teach clinicians about a neurologic illness that requires comprehensive medical and neurologic investigation due to the manifestations of lymphocytic meningitis might distract you from Fahr syndrome symptoms.     

Central-variant posterior reversible encephalopathy syndrome in an infant with mid-aortic syndrome: A rare case of symmetric basal ganglia lesions

Central-variant posterior reversible encephalopathy syndrome is an atypical subtype of posterior reversible encephalopathy syndrome that occurs during rapid fluctuations in blood pressure, leading to cerebrovascular autoregulatory failure and endothelial dysfunction. Few reports have described posterior reversible encephalopathy syndrome in infants. A 4-month-old girl, who was diagnosed a month before with hypoxic ischemic encephalopathy due to sudden cardiac arrest, showed persistent renovascular hypertension with a systolic blood pressure of 200 mmHg. Computed tomography of the head revealed a new-onset low-attenuation area in the bilateral basal ganglia, and computed tomography of the trunk revealed severe long-segment narrowing of the abdominal aorta encompassing the bilateral renal arteries. She was treated with antihypertensive drugs and peritoneal dialysis. Follow-up imaging after blood pressure stabilization showed resolution of the low-attenuation area in the bilateral basal ganglia. We diagnosed her basal ganglia lesions as central-variant posterior reversible encephalopathy syndrome. She suffered from neurological sequelae attributable to hypoxic ischemic encephalopathy but showed no evidence of basal ganglia dysfunction. Here, we report a case of infantile central-variant posterior reversible encephalopathy syndrome involving bilateral basal ganglia lesions with mid-aortic syndrome. The differential diagnosis of infantile symmetric bilateral basal ganglia lesions is broad and includes genetic, acquired metabolic or toxic, infectious, inflammatory, vascular, and neoplastic pathologies. Among them, central-variant posterior reversible encephalopathy syndrome is rare but important because neurological prognosis may be favorable, and specific treatment, such as administration of antihypertensive drugs or discontinuation of drugs that induce posterior reversible encephalopathy syndrome, is possible.     

MRI上抽动秽语综合征患者基底节核团体积的变化

目的 探讨MR测量基底节核团体积对抽动秽语综合征(Tourette's syndrome,TS)病因诊断的价值.方法 选取10例TS患者(TS组)和10名健康志愿者(对照组)进行MR扫描,分别测量双侧尾状核、壳核、苍白球的体积,对两侧的基底节体积采用配对t检验进行比较分析;将大脑ROI体积数值进行标准化处理,对TS组和对照组之间基底节体积采用独立样本t检验进行比较分析.结果 正常对照组左侧尾状核、壳核、苍白球体积及3者之和均大于右侧(P值均＜0.05),TS组上述结构两侧比较差异尤统计学意义(P值均＞0.05).根据大脑体积进行标准化处理后,TS患者左侧尾状核、壳核、苍白球体积分别为(7.06±0.48)、(8.81±1.01)、(2.64±0.38)cm3,正常对照组分别为(11.05±1.86)、(9.97±1.11)、(3.04 ± 0.37)cm3,TS组较对照组减小(t值分别为-6.577、-2.457、-2.376,P值均＜0.05);TS组右侧尾状核体积[(7.32 ± 0.26)cm3]较对照组[(9.81 ±1.83)cm3]减小(t=-4.258,P＜0.01),右侧壳核、苍白球体积与对照组比较差异尤统计学意义(P值均＞0.05).结论 MRI显示TS患者基底节核团体积减小,这对研究其病理生理机制及神经病理变化有一定的价值.     

Gorlin's syndrome: diffuse appendicular skeletal involvement with scintigraphic correlation

Gorlin's syndrome (also known as basal cell nevus syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome) is a rare, inherited disorder characterized by multiple basal-cell epitheliomas, intracranial calcification, keratocysts of the mandible, and unusual and striking skeletal abnormalities. We present the interesting case of a 45-year-old woman who was informed that she had fibrous dysplasia of the extremity at another institution before extensive radiological work-up showed a diffuse skeletal process. The skeletal abnormalities, in conjunction with the patient's history of multiple basal cell carcinomas, is consistent with the diagnosis of Gorlin's syndrome. We describe this unusual case of striking radiological and scintigraphic findings in a patient with Gorlin's syndrome.     

The metacarpal index — obsolete in Marfan syndrome!

28 patients with definite, probable or phenotypic Marfan syndrome underwent manual and computerised measurement of their metacarpal indices. Two methods were used from among the several variations quoted in the literature, one involving the average length/width of metacarpals 2–5 (method I), and the other dividing the sum of the lengths by the sum of the widths of these metacarpals (method II). The two methods are not mathematically identical, and a statistically significant difference was noted between them. Only 50% of the children in each group had elevated metacarpal indices, making it a time-consuming method that is indicative only of the phenotype and can be found in normal individuals. It should therefore be considered an obsolete measurement in Marfan syndrome.     

基底细胞痣综合征影像表现

目的:探讨基底细胞痣综合征(BCNS)的临床及影像学表现.方法:搜集6例经病理和临床综合诊断证实的BCNS患者的临床和影像资料进行回顾性分析,总结分析其影像学表现.结果:6例(6/6)均有颌骨囊肿和颅内异常钙化灶,分别伴有皮肤多发基底细胞痣或手掌、足底点状凹陷4例(4/6),脊椎侧突或椎体融合4例(4/6)、肋骨分叉3例(3/6),透明隔囊肿1例(1/6),特殊面征4例(4/6),口腔症状6例(6/6),生殖系统发育异常或肿瘤2例(2/6),双眼分离性斜视1例(1/6).结论:BCNS以颌骨囊肿为主要表现,常伴有其他器官的变异或病症,影像诊断为该病的确诊提供重要依据,对临床制定治疗方案具有重大临床意义.     

甘草酸二铵联合槐耳颗粒治疗肝癌TACE术后栓塞综合征临床观察

目的：探讨甘草酸二铵联合中药槐耳颗粒治疗肝癌肝动脉化疗栓塞(TACE)术后栓塞综合征的临床疗效。 方法：选择90例肝癌行常规TACE治疗后的患者,按随机数字表法分为观察组和对照组各45例。对照组单纯给予甘草酸二铵注射治疗;观察组在对照组治疗基础上给予中药槐耳颗粒口服治疗。比较2组治疗后1个月内转氨酶和栓塞综合征缓解情况,并评价临床疗效。 结果：观察组栓塞综合征（发热、腹痛）缓解程度、生活质量评分显著高于对照组（P<0.05）,观察组转氨酶复常有效率、临床总效率、术后恶心呕吐患者比例与对照组无明显差异（P>0.05）。 结论：甘草酸二铵注射联合中药槐耳颗粒治疗TACE术后栓塞综合征疗效显著,提高了患者生活质量,安全可靠,值得临床推广应用。     

Acute soft head syndrome in a sickle cell disease patient

Acute soft head syndrome is an extremely rare complication in children with sickle cell anemia. We present a 16-year old male patient known to have sickle cell anemia who presented to our emergency department with low grade fever, headache, skull pain and swelling. Magnetic Resonance of the brain was done demonstrating subgaleal collections overlying calvarial signal abnormalities. The combination of clinical and radiological findings were indicative of acute soft head syndrome. Acute soft head syndrome is a rare complication in children with sickle cell anemia and the pathophysiology is related to osteonecrosis and bone infarcts of the calvarium as well as secondary reactive sub-galeal collections. Treatment includes conservative management with intravenous fluids and analgesics, in addition, our patient was treated with antibiotics since differentiation clinically and by imaging can be challenging. Acute soft head syndrome should be considered in the differential diagnosis of headache and skull swelling in children with sickle cell anemia.     

Posterior reversible encephalopathy syndrome on COVID-19

For the time being, COVID-19 has been endemic and presents a varied neurological picture. Moreover, one of the remarkable neurological pictures is posterior reversible encephalopathy. It is a neurotoxic state which is considered a rare manifestation; however, it is essential to recognize. It originates from the disturbance of the blood-brain barrier which causes vasogenic edema and most commonly occurred in the parieto-occipital regions. Thus, we presented a case of a patient diagnosed with COVID-19 infection with posterior reversible encephalopathy syndrome (PRES) as shown at the brain MRI examination. It was categorized as a form of brain disorder in COVID-19.     

A morphometric CT study of Down's syndrome showing small posterior fossa and calcification of basal ganglia

Summary We report characteristic and morphometric changes of cranial computed tomography (CT) with increasing age in 56 patients with Down's syndrome aged from 0 month to 37 years. Patients were compared with 142 normal controls aged 0 to 59 years. Width of ventricles, Sylvian fissures, posterior fossa, pons and cisterna magna were measured on CT. The incidences of the cavum septi pellucidi, cavum vergae and cavum veli interpositi and high density in the basal ganglia were examined. There was high incidence (10.7%) of bilateral calcification of basal ganglia in Down's syndrome, although that of pineal body and choroid plexus calcification was similar in Down's syndrome and controls. Basal ganglia calcification is more frequently seen in young Down's syndrome and may be related to the premature aging characteristic of Down's syndrome. The CT in Down's syndrome showed relatively small posterior fossa, small cerebellum, small brain stem and relatively large Sylvian fissures in those under one year of age. There was a high frequency of midline cava and large cisterna magna. There were no significant atrophic changes on CT except after the fifth decade comparing with controls.     

急性呼吸窘迫综合征预后的影响因素探讨

目的探讨影响急性呼吸窘迫综合征(ARDS)预后的因素。方法对我院呼吸内科重症监护室(R ICU)30例ARDS患者性别、年龄、基础疾病、诱发因素(肺源性、肺外源性)、合并下呼吸道感染、行机械通气、并发多器官功能障碍综合征(MODS)、发病至确诊时间、APACHEⅡ评分、氧合指数(PaO2/F iO2)、C-反应蛋白(CRP)、血清白蛋白(ALB)、血尿素氮(BUN)等因素与其预后的关系行单因素分析。将单因素分析有显著性意义的变量分级并赋值,采用多因素Logistic回归筛选预后因素。结果 30例ARDS患者死亡20例,存活10例。患者的病死率与性别、年龄、诱发因素、合并下呼吸道感染、行机械通气无关。死亡组与存活组患者的APACHEⅡ评分、PaO2/F iO2、CRP、ALB基础值(治疗前)比较差异均无显著性(P>0.05)。既往患基础病、并发MODS、发病至确诊时间长、CRP升高及确诊时BUN指标异常是ARDS患者死亡的独立危险因素。结论既往患基础疾病、并发MODS、发病至确诊时间长、CRP升高与ARDS患者死亡密切相关。     

角蛋白19在皮肤癌组织中表达特征的实验研究

目的：了解角蛋白19在皮肤鳞癌和皮肤基底细胞癌组织中的表达特征。方法：选择皮肤鳞癌标本6个和皮肤基底细胞癌标本4个，分别切取癌组织各一块，同时切取正常皮肤组织2块作对照，应用过氧化酶标记的链霉卯白素(SP)免疫组化法，以小鼠抗人角蛋白19型的单克隆抗体来检测角蛋白19表达阳性细胞。结果：正常皮肤组织只有表皮基底细胞层和附属器的部分细胞表达角蛋白19：1级鳞癌组织中无角蛋白19表达阳性细胞，但有部分细胞核大小不等，形态各异，而且细胞分布较紊乱，并有许多角化珠；Ⅱ级皮肤鳞癌有局灶性的角蛋白19表达阳性细胞，这些细胞分布紊乱，细胞核大小不等，形态各异；Ⅲ级皮肤鳞癌和基底细胞癌组织内有大量的角蛋白19表达阳性细胞，且分布紊乱，其核大小不等，形态各异。结论：角蛋白19在皮肤鳞癌组织中的表达特征与皮肤鳞癌的分化程度有关，分化程度越低，角蛋白19表达越强，分化程度越高，角蛋白19表达越弱，甚至不表达。     

Mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presents with the features of herpes simplex encephalitis (HSE), which is rare and has been described in only a few case reports. Our case describes a 17-year-old female with no significant previous medical history presenting with an acute onset of fever, headache, and epilepsy, similar to HSE. Computed tomography of the brain showed bilateral basal ganglia calcification. Magnetic resonance imaging demonstrated gyriform restricted diffusion with T2-weighted images prolongation. Further investigation showed elevated blood lactate concentration at rest. Hence, MELAS was suspected and the diagnosis was confirmed by the presence of a nucleotide 3243 A→G mutation in the mitochondrial DNA. The clinical presentation and imaging studies of MELAS are variable and may mimic those of HSE. Infection may have also precipitated MELAS manifestation in this patient. Laboratory features, such as elevated lactate, basal ganglia calcification, and gyriform restricted diffusion may be helpful in identifying patients with MELAS.     

Intracranial calcifications in childhood medulloblastoma: relation to nevoid basal cell carcinoma syndrome

BACKGROUND AND PURPOSE: Medulloblastoma is one of the most common posterior fossa tumors to occur in children. Our purpose was to document the frequency, location, and time of occurrence of intracranial calcifications in cranial CT studies of children with medulloblastoma. METHODS: We retrospectively reviewed cranial CT studies of 56 patients diagnosed with medulloblastoma from 1983 through 1997 for the presence of intracranial calcifications. The findings were compared with 159 cranial CT studies of patients who were evaluated in the emergency department (control group). Thirty-two patients with medulloblastoma without shunts were compared with 118 patients from the control group without shunts. Similarly, 24 patients with medulloblastoma with shunts were compared with 41 patients from the control group with shunts. RESULTS: Overall, three (9%) patients with medulloblastoma without shunts, four (16%) patients with medulloblastoma with shunts, and four (10%) patients from the control group with shunts had falx calcification. Only the two children carrying the diagnoses of medulloblastoma and nevoid basal cell carcinoma syndrome, however, had calcification of the falx cerebri shown on the cranial CT scans obtained during the peridiagnostic period. Both were diagnosed with medulloblastoma before the age of 3 years and later developed jaw cysts and multiple basal cell carcinomas in the radiation field. CONCLUSION: Previous studies have shown that falx calcification is a major component of nevoid basal cell carcinoma syndrome. Our two cases illustrate the importance of considering the diagnosis of nevoid basal cell carcinoma syndrome when falx calcification is present in young patients with medulloblastoma. If the concomitant diagnosis of nevoid basal cell carcinoma syndrome is made, alternative types of therapy should be sought to minimize radiation therapy sequelae.     

Gorlin's syndrome with a thin corpus callosum and a third ventricular cyst

Gorlin's syndrome (naevoid basal cell carcinoma) is an autosomal dominant tumor-predisposition syndrome, classically consists of multiple basal cell carcinomas of the skin, odontogenic keratocyst of the jaw, various skeletal abnormalities, and lamellar falx calcifications. Many associated lesions have been reported. We report a case of Gorlin's syndrome in a 22-year-old man in whom CT and MR images showed unusual findings of the thin corpus callosum and third ventricular cyst. We present a case of this syndrome with special emphasis on its unusual neuroradiological findings and radiological management.     

Moyamoya syndrome presenting in an adult with Down syndrome: A case report with a literature review

Moyamoya disease is an unusual occlusive cerebrovascular condition commonly seen in children, marked by stenosis of the internal carotid artery and circle of Willis, causing, cerebral ischemia. Moyamoya syndrome is a Moyamoya-like arteriopathy with risk factors including autoimmune disorders, thyroid disease, sickle cell disease, or Down syndrome. Trisomy 21 is a genetic disorder consistent with specific physical and behavioral characteristics, with intellectual impairment. We describe a rare case of Moyamoya syndrome manifesting as ischemic stroke in an adult with Down syndrome     

Dyke-Davidoff-Masson syndrome: A case report with a literature review

Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon neurological disease defined as cerebral hemiatrophy with a contralateral motor deficit, facial asymmetry, and seizures. Classic imaging findings are cerebral hypoplasia, ventriculomegaly, paranasal sinus hyper-pneumatization, and compensatory osseous enlargement. The diagnosis of DDMS is based on the correlation between clinical and neuroimaging features. The management of DDMS is based on anticonvulsant medication with physiotherapy. We describe an unusual case of DDMS presented with frequent and persistent seizures.     

A rare case of arterial tortuosity syndrome in an adult

Arterial tortuosity syndrome (ATS) is rare autosomal recessive connective tissue disorder. It affects large and medium-sized arteries inducing tortuosity and elongation. Typical skeletal manifestations are dysmorphic features, hyperextensible skin, hypermobile joints, and congenital contractures.We present a case of a 33-year-old female, with history of multiple abdominal wall hernias, who was diagnosed with ATS by preoperative investigations based on typical vascular manifestations. We will present the radiological findings of this rare condition.     

Metastatic choriocarcinoma with hemorrhagic complications and spontaneous ovarian hyperstimulation syndrome: A case report

Gestational choriocarcinoma is a malignant trophoblastic tumor arising from any gestational event, even with a long latency period, generally in the reproductive female. It is associated with a high level of beta-human chorionic gonadotropin. Its primary site is usually the uterus but not all patients have a detectable lesion in this site. Regression of the primary tumor after it has metastasized is not uncommon, and one-third of cases manifest as complications of metastatic disease. In this report we present an uncommon case of gestational choriocarcinoma with lung, liver and jejunal metastases at the time of diagnosis without evidence of pelvic disease, in 34-year-old woman. The main points of interest of our case were the development of the ovarian hyperstimulation syndrome with massive multicystic ovarian enlargement induced by high level of beta-human chorionic gonadotropin and the bleeding of jejunal and liver metastases, due to the high vascularity of the tumor tissue, a condition known as “Choriocarcinoma Syndrome”. We will focus on the radiological findings of metastases, bleeding complications and ovarian hyperstimulation syndrome.