Ⅰ型神经纤维瘤病1例

Ⅰ型神经纤维瘤病(NF1)又称Von Recklinghausen病,是一种常见的常染色体显性遗传病.临床特点为多系统、多器官受损,主要特征为皮肤牛奶咖啡斑和多发性皮肤软组织纤维瘤.儿童NF1罕见,且临床表现不典型,易误诊.现报告本院2007年7月收治的NF1患儿1例.     

1 型神经纤维瘤病合并阴蒂肥大 1 例报告

目的探讨1型神经纤维瘤病(NF1)的临床表现、诊断和治疗。方法回顾分析1例利用高通量测序技术确诊的合并阴蒂肥大的1型神经纤维瘤病患儿的临床资料,并复习相关文献。结果女性患儿,生后即发现牛奶咖啡斑伴阴蒂肥大。NF1基因检测结果c,655-7-655-2delTTTATA,为新发突变,有致病性。结论 NF1同时合并外生殖器异常者临床罕见。NF早期临床诊断困难,对疑似病例应尽早行基因检测确诊。     

神经纤维瘤病1家系报告

患儿,男,5岁,因“昏迷、发热、呕吐3 d”入院。1岁内反复无热惊厥3次,可自行缓解,当地按“低钙惊厥”治疗“好转”;近1年来反复在玩耍中突然摔倒,立即或数小时后开始昏迷,期间伴中度发热、频繁呕吐,当地诊所治疗(具体不详),2~3 d后可恢复正常。3 d前再次出现类似病症而来我院就     

NF1基因突变致1型神经纤维瘤病8例临床分析

目的了解1型神经纤维瘤病(NF)的临床表型特征及异质性。方法回顾分析8例NF患儿的临床及基因检测资料。结果 8例患儿中男5例、女3例,均因生后多发牛奶咖啡斑就诊,2例伴丛状神经纤维瘤,1例伴多处皮肤神经纤维瘤。8例患儿有7种突变形式,NF1基因全部缺失2例;4种缺失突变,分别为c.4974_4977delCTAT,p.Y1659TfsX17、c.3987_3988delAG,p.S1329fsX4、c.1511delC,p.P504QfsX22和c.6388delC,p.L2130fsX3;1种c.3975-2delA剪切突变;1种c.3721 CT,p.R1241X无义突变。除全基因大片段缺失和无义突变之外,其余均为未报道的新突变。患儿父母外周血均未检测出相应的突变。结论 NF1基因突变可致1型NF,此研究发现5种新的突变,且均为de novo突变。多发牛奶咖啡斑是1型NF最早的临床表现,对疑似患者应尽早行基因分析确诊。     

Ⅰ型神经纤维瘤病罕见NF1基因突变一例

患儿,女,4岁,因左侧颌面部肿胀、反复头痛1年左朽在我院神经专科就诊。患儿近1年左侧颌面部肿胀,且肿胀不断加重,伴有反复头痛,可忍,无明显呕吐。患儿为独女,G1P1,足月顺产,出生史无异常,精神运动发育无明显迟缓,无惊厥。母孕期体健。家族中无特殊病史。     

神经纤维瘤病Ⅰ型伴急性髓系白血病1例

1病例资料 患儿,男,6岁,主因"面色发黄、乏力1个月"于2021年1月就诊于我院.患儿为第2胎第2产,生长发育无异常,平素体健.患儿父亲全身可见8块咖啡牛奶斑,最大者4.5 cm×2.5cm,左侧眼睑下垂,躯干部可扪及数个皮下结节.患儿姐姐全身皮肤同样可见咖啡牛奶斑.人院查体:重度贫血貌,全身皮肤可见20块咖啡牛奶斑...     

神经纤维瘤病Ⅰ型合并儿童恶性实体肿瘤的临床分析

目的 总结神经纤维瘤病Ⅰ型(NF1)合并恶性实体肿瘤患儿的临床特征及预后。方法 回顾性分析2018年—2022年在我院肿瘤内科诊断并治疗随访的NF1合并恶性实体肿瘤患儿的临床资料,并分析预后。结果 共8名患儿纳入分析,男女各4例。诊断NF1的中位年龄为6.8(0.9-12.9)岁,诊断恶性实体肿瘤的中位年龄为5.3(0.9-13.3)岁。6例在实体肿瘤诊断时或之后确诊为NF1,仅2例在肿瘤诊断前确诊。肿瘤包括3例恶性周围神经鞘瘤、2例横纹肌肉瘤、2例视神路胶质瘤和1例神经母细胞瘤。所有患儿接受化疗;7例进行手术治疗,其中6例完全切除;4例接受放疗。随访中位时间为12.5(1-68)个月,7例存活,复发3例。结论 NF1可合并多种恶性实体肿瘤,早期识别NF1合并恶性肿瘤。     

神经纤维瘤病1型基因的骨表达及自我平衡的研究进展

<正>神经纤维瘤病1型(Neurofibromatosis type1,NF1)是一种常见显性遗传性疾病,是由位于染色体17q11.2的NF1基因突变引起。NF1基因编码神经纤维素,是一个具有GTp酶激活蛋白(Ras-GAP)结构域的、含有2 818个氨基酸的蛋白,它加快活性Ras-GTP转换为非活性RAS-GDP[1]。该基因编码的神经纤维瘤蛋白(Ras GTPase激活蛋白)在细     

神经纤维瘤病伴幼年性黄色瘤1例

患儿男 ,5岁。因皮肤色斑和皮疹于 1998年 5月 6日入院。患儿出生后发现背部皮肤有散在的咖啡色斑 ,周身有散在的肿物 ,皮色正常。于生后 8个月时又发现周身皮肤出现散在的黄红色结节 ,颜色逐渐变淡呈豆黄色。均无自觉症状。体检 :发育正常 ,智力无低下 ,系统检查未见异常。皮肤表现 :背部、腰间可见散在分布的多个卵圆型、黄豆至蚕豆大的淡棕色斑 ,边界清楚 ,皮疹数多于 6个。腋下未见雀斑样色素斑。躯干及四肢散在大小不一的、黄豆至拇指甲大的半球型肿物 ,质软、无蒂。其间散在米粒至黄豆大的淡黄色卵圆形丘疹及结　　作者单位 :辽宁中医…     

Unidentified bright objects on brain MRI in children as a diagnostic criterion for neurofibromatosis type 1

Background Lesions of the brain denominated as unidentified bright objects (UBOs), which are not included in the diagnostic criteria for neurofibromatosis type 1 (NF1) established by the National Institutes of Health (NIH), have been detected by MRI. Objective The purpose of this study was to investigate the possibility of including the presence of UBOs as a diagnostic criterion for NF1 in children. Materials and methods The study included 88 children between the ages of 2 and 18 years. The case group consisted of 40 children diagnosed with sporadic or familial NF1 according to the criteria established by the NIH. A control group consisted of 48 individuals referred for routine MRI of the brain for other complaints not related to NF1. Results UBOs were identified in 70% of the NF1 patients and in none of the control group. The sensitivity of the presence of UBOs for the diagnosis of NF1 was 70% (CI 53–83%), with a false-negative rate of 30% (CI 27–47%), a specificity of 100% (CI 86–100%) and a false-positive rate of 0% (CI 0–14%). Conclusion Faced with the difficulties in diagnosing NF1 in children and the high frequency and specificity of the presence UBOs identified by MRI in our series, we recommend the inclusion of the presence UBOs as a diagnostic criterion for NF1 in children.     

Magnetic resonance imaging in children with kernicterus

The magnetic resonance (MR) findings of three children with severe neonatal jaundice who were suspected to be suffering from kernicterus were examined. In all children high intensity areas in the globus pallidus were demonstrated bilaterally on T2-weighted imaging. The posteromedial border of the globus pallidus was shown to be the most sensitive area to kernicterus by MR findings. D Athetosis, cerebral palsy, globus pallidus, kernicterus, magnetic resonance imaging
K Yokochi, Ohzora-no-iye Hospital, 7448 Nakagawa, Hosoe, Inasa, Shizuoka 431-13, Japan     

Magnetic resonance imaging of the neonatal brain

Neonatal magnetic resonance (MR) imaging is rapidly becoming the preferred modality for the evaluation of central nervous system disorders in the newborn. Recent literature supports the value of this imaging technique in diagnosing ischemic, hemorrhagic and infectious disease processes in the premature and full-term neonatal brain. Recent data in premature newborns with neurological injury also suggest a role for MR imaging in determining long-term neurodevelopmental outcomes. This review article provides a framework and overview on neonatal MR imaging techniques and examines the literature or radiological disease patterns and prognostic implications in common neurological disorders.     

Unidentified bright objects in neurofibromatosis type 1: Conventional MRI in the follow-up and correlation of microstructural lesions on diffusion tensor images

Purpose

To evaluate the evolution of unidentified bright objects (UBOs) in individuals with neurofibromatosis type 1 (NF1) by serial magnetic resonance imaging (MRI), and to relate this to regional fractional anisotropy (FA).

Materials and Methods

The signal pattern of the T2-weighted sequences in the basal ganglia, thalamus, brain stem, and cerebellum for 27 NF1 individuals and a control group were analyzed by diffusion tensor imaging (DTI). The presence or absence of UBOs in 2 consecutive MRI examinations was related to FA.

Results

We demonstrated significant differences in FA for the basal ganglia, cerebellum, and thalamus between NF1 patients and controls (P ≤ 0.05), even with a reduction or disappearance of UBOs.

Conclusions

MRI allows for adequate monitoring of the temporal and spatial distribution of UBOs in patients with NF1. DTI confirmed changes in FA despite the disappearance or reduction of UBOs, thereby confirming the hypothesis that microstructural damage occurs in specific brain regions of NF1 patients.     

Neurological comorbidity in children with neurofibromatosis type 1

Background

The aim of this study was to determine the frequency of central nervous system comorbidities in children with neurofibromatosis type 1 (NF1).

Methods

We performed a nationwide survey to investigate neurological comorbidities in 3–15‐year‐old children with NF1 in Japan by sending questionnaires to pediatricians and pediatric neurologists. A secondary questionnaire was sent to the parents of identified NF1 patients to assess neurological comorbidities including headache, attention deficit–hyperactivity disorder (ADHD) Rating Scale (RS), and the Social Responsiveness Scale 2.

Results

The primary survey identified 760 NF1 patients, and the parents of 565 patients were sent the secondary questionnaire. The parental response rate was 25.7% (145; 63 girls, 81 boys, one unspecified). Among the patients, 42.9% (55/128; 35 girls, 20 boys) were reported to exhibit intellectual problems. On the ADHD‐RS, 40.2% (47/117) of NF1 patients aged 6–15 had ADHD (RS score >93rd percentile), with a rate of 47.7% in boys and 30.8% in girls. Furthermore, 20.2% of patients had suspected autism spectrum disorder (29/143; 10 girls, 19 boys), with Social Responsiveness Scale score ≥76. Headache was reported by 49.6% (61/123) of children over 5 years old, and 25.2% (31/123; 10 girls, 21 boys) reported migraine. Other neurological comorbidities included 20 cases of epilepsy (13.8%), 11 cases of optic nerve glioma (7.6%), five cases of brain tumor (3.4%), six cases of cerebrovascular disease (4.1%), and two cases of hydrocephalus (1.4%).

Conclusion

Intellectual problems, ADHD, autism spectrum disorder, and migraine are major neurological comorbidities in NF1.     

Optic gliomas in children with neurofibromatosis type 1

To determine the frequency and natural history of tumors of the optic nerves and chiasm in patients with neurofibromatosis type 1, we obtained computed tomographic scans of 65 children who had no known visual or ocular abnormalities before their initial evaluation. Optic gliomas were detected in 10 children (15%). The median age of children with gliomas was 4.3 years (mean 5.8 years, range 9 months to 21 years). Three children (30%) had isolated, unilateral tumors, three (30%) had bilateral tumors, and four (40%) had involvement of the optic chiasm and of one or both nerves. Definite abnormalities of vision were found in only two children (20%). Five additional children were referred to the clinic after evaluation of ophthalmologic complaints led to the diagnosis of neurofibromatosis type 1: three had unilateral exophthalmos and two had plexiform neurofibromas of the eyelid with associated glaucoma. Ipsilateral optic gliomas were found in all five children; one child also had a contralateral tumor. Optic gliomas are commonly identified in young children with neurofibromatosis type 1 who have no ocular or visual abnormalities. Optic nerve gliomas may be associated with plexiform neurofibromas of the eyelid and glaucoma.     

Optic gliomas in children with neurofibromatosis type 1

Over a 24-year period, optic gliomas were found in 29 children, 16 of whom had neurofibromatosis type 1 (NF-1). These 16 children comprised 21% of all children referred for management of NF-1 and its complications. The finding of optic glioma led to the diagnosis of NF-1 in 4 children. The mean age at diagnosis of optic glioma in NF-1 children was 6.4 years, and the average estimated duration of visual symptoms prior to diagnosis was 2.1 years. Most optic gliomas in NF-1 children were ascertained because of a visual complaint (69%), and an even greater number of children (88%) had an abnormal ophthalmological examination. The optic chiasm was involved in 75% of the patients. All of the seven children with optic glioma examined by visual evoked potential had an abnormal response ipsilateral to the tumour. The majority of the children received radiation therapy. After a mean follow up period of 5.8 years no deaths had occurred due to optic glioma, but in 35% of the children vision was worse. We conclude that optic glioma is a common, serious complication in NF-1 children. Routine care of such patients should include regular noninvasive investigations aimed at detecting lesions of the optic pathway.The results were presented in part at the meeting of the Society for Pediatric Research, Washington, D. C., May 1989