Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing [0.03%]
无神经纤维瘤的神经纤维瘤病：证实基因型与表型的相关性及其对基因检测的意义
B Quintáns,J Pardo,B Campos et al.
B Quintáns et al.
Neurofibromatosis type 1 (NF1) is a multisystem disease with autosomal dominant inheritance and complete penetrance diagnosed by clinical findings. Cutaneous neurofibromas are present in almost all adult patients in the dermis, epidermis or...
Case Reports
Case reports in neurology. 2011 Apr 11;3(1):86-90. DOI:10.1159/000327557 2011
Unilateral Abducens Nerve Palsy as an Early Feature of Multiple Mononeuropathy Associated with Anti-GQ1b Antibody [0.03%]
抗GQ1b抗体相关性多发单神经病的早期体征——展神经麻痹
Ryuta Kinno,Hiroo Ichikawa,Hiroto Tanigawa et al.
Ryuta Kinno et al.
Patients with anti-GQ1b antibody syndrome show various combinations of ophthalmoplegia, ataxia, areflexia, or altered sensorium as clinical features. We describe herein a unique case with unilateral abducens nerve palsy as an early feature ...
Case Reports
Case reports in neurology. 2011 Mar 4;3(1):82-5. DOI:10.1159/000326340 2011
Flávio A Carvalho,Tenille Bernardino,Ricardo O H Maciel et al.
Flávio A Carvalho et al.
Background: Central nervous system lesions are rare causes of respiratory failure. Simple observation of the breathing pattern can help localize the lesion, but the examiner needs to be aware of potential pitfalls such as...
Case Reports
Case reports in neurology. 2011 Feb 23;3(1):75-81. DOI:10.1159/000324823 2011
An unusual case of neuralgic amyotrophy presenting with bilateral phrenic nerve and vocal cord paresis [0.03%]
以双侧膈神经和声带麻痹为表现的罕见神经痛性肌萎缩症病例报告
F Holtbernd,A Am Zehnhoff-Dinnesen,T Duning et al.
F Holtbernd et al.
Background: Neuralgic amyotrophy (brachial plexus neuropathy, brachial plexus neuritis, or Parsonage-Turner syndrome) is an uncommon inflammatory condition typically characterized by acute and severe shoulder pain followe...
Case Reports
Case reports in neurology. 2011 Feb 23;3(1):69-74. DOI:10.1159/000325061 2011
Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation [0.03%]
以进行性运动神经病为首发表现的TTR Tyr78Phe基因突变淀粉样神经病变1例报告
Giulietta Riboldi,Roberto Del Bo,Michela Ranieri et al.
Giulietta Riboldi et al.
Transthyretin (TTR) amyloidosis, the most frequent form of hereditary amyloidosis, is caused by dominant mutations in the TTR gene. More than 100 mutations have been identified. Clinical manifestations of TTR amyloidosis are usually induced...
Case Reports
Case reports in neurology. 2011 Feb 23;3(1):62-8. DOI:10.1159/000324925 2011
Cerebellar degeneration as presenting symptom of recurrent endometrial stromal sarcoma with sex-cord elements [0.03%]
性索成分复发子宫内膜间质肉瘤的小脑变性首发症状
Michael Gliem,Dimitris Panayotopoulos,Peter Feindt et al.
Michael Gliem et al.
We report a 66-year-old woman with slowly progressive ataxia due to cerebellar atrophy. Imaging studies revealed multiple lesions in both the lungs and dorsal subpleural space. A biopsy identified the lesions as metastases of a low-grade en...
Case Reports
Case reports in neurology. 2011 Feb 21;3(1):54-61. DOI:10.1159/000324927 2011
The challenge of managing fusiform basilar artery aneurysms: from acute ischemic stroke to a massive subarachnoid hemorrhage [0.03%]
梭形基底动脉瘤的诊治挑战：从急性缺血性卒中到脑室铸型的蛛网膜下腔出血
Sofia Bezerra,Eduardo Casaroto,Monique Bueno Alves et al.
Sofia Bezerra et al.
We present the case of a patient with acute brain stem ischemic stroke who was found to have a fusiform basilar aneurysm with a thrombus within the dilated vessel. Three days after the ischemic stroke, the patient had a massive subarachnoid...
Case Reports
Case reports in neurology. 2011 Feb 21;3(1):50-3. DOI:10.1159/000324825 2011
Harald Prüss,Randolf Klingebiel,Matthias Endres
Harald Prüss
Tension pneumocephalus results from intracranial air under pressure as a rare complication after head injury or craniofacial surgery. A 58-year-old man underwent ethmoid sinus surgery and subsequently developed rapidly progressive global he...
Case Reports
Case reports in neurology. 2011 Feb 14;3(1):48-9. DOI:10.1159/000324824 2011
Gradenigo's Syndrome: Beyond the Classical Triad of Diplopia, Facial Pain and Otorrhea [0.03%]
Gradenigo综合征：超越经典的复视、面部疼痛和耳漏三联征
José Luiz Pedroso,Camila Catherine Henriques de Aquino,Agessandro Abrahão et al.
José Luiz Pedroso et al.
We report a case of a non-Hodgkin's lymphoma in a young woman presenting with an abdominal mass and an unusual instance of cranial nerve palsies mimicking Gradenigo's syndrome. This condition is characterized by a triad of otorrhea, facial ...
Case Reports
Case reports in neurology. 2011 Feb 15;3(1):45-7. DOI:10.1159/000324179 2011
A patient with splenic marginal zone lymphoma presenting with spastic paraplegia as the initial symptom [0.03%]
以痉挛性截瘫为首发症状的脾边缘区淋巴瘤1例报告
Yuko Wada,Yo Nishimura,Kimio Hashimoto
Yuko Wada
In this report, we describe the case of a patient with splenic marginal zone lymphoma (SMZL) who presented with spastic paraplegia as the initial symptom. A 42-year-old male developed progressive spastic paraplegia over 4 months. His neurol...
Case Reports
Case reports in neurology. 2011 Jan 29;3(1):39-44. DOI:10.1159/000324446 2011