Bickerstaff brainstem encephalitis. A case report

A 33-year-old woman three weeks after a febrile illness presented with a syndrome of ophthalmoplegia, ataxia and areflexia (SOAA) that characterizes clinically both Bickerstaff and Miller Fisher syndromes. The normality of the electrophysiological tests performed, the CSF findings and the magnetic resonance images proved that the syndrome stemmed from brainstem pathology.

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Sommario Viene descritto il caso di una paziente che, tre settimane dopo aver sofferto una sindrome influenzale, presentò un quadro clinico caratterizzato da oftalmoplegia, atassia ed are flessia osteotendinea il quale, come è noto, caratterizza sia la sindrome di Bickerstaff che quella di Miller Fisher. La normalità degli esami neurofisiologici (SEPs, VEPs, BAEPs, studio della VCM, VCS), il reperto liquorale e, soprattutto, l'esame di risonanza magnetica encefalica hanno permesso di ricondurre il quadro sindromico osservato and una compromissione del mesencefalo.

     

伴有精神症状的自身免疫性脑炎的临床特点分析

目的 分析不同抗体类型自身免疫性脑炎患者精神症状的特点.方法 回顾性研究了自身免疫性脑炎患者的临床特点.对自免脑患者的精神症状进行分析.对象:2019年9月到2020年12月就诊于中国医科大学附属第一医院神经内科确诊为自身免疫性脑炎的患者.结果 抗体阳性为20例,临床表现中最常见的依次是抽搐发作、精神症状、意识障碍、记...     

Trigeminal neuropathy with nasal ulceration: report of two cases and one necropsy.

Two cases are reported of progressive trigeminal neutopathy with nasal ulceration. One patient developed signs of spinal cord involvement 15 years after the onset of trigeminal symptoms and died after a total course of 21 years. Necropsy revealed an unusual trigeminospinal system degeneration with deposition of amyloid-like substances in the affected structures. The other patient is alive eight years after the onset of symptoms, the only indication of a lesion outside the trigeminal nerve being a patch of numbness in one leg.     

Diagnostic difficulties in herpes simplex encephalitis patients: report of three cases

Herpes simplex encephalitis (HSE) is a rare infection of the central nervous system. The prognosis is poor, even in those receiving anti-herpetic therapy (about 20% of patients die, and in 40% of cases neurological sequelae are severe). The diagnosis is based on clinical signs of encephalitis, typical pathological changes in MRI, and on the presence of anti-HSV antibody and/or HSV-DNA in the cerebrospinal fluid. Three cases of encephalitis are presented. The clinical course and pathological changes in the temporal lobes seen in MRI were characteristic of the HSV etiology. Early intrathecal synthesis of anty-HSV antibodies were not detected despite an increase in their serum level in the course of the disease. HSV-DNA detection with PCR was not performed. Nevertheless in all cases aciclovir therapy was introduced on the first day of hospitalization. Possibilities of diagnosing HSE on the basis of clinical signs and MRI scans during the first week of the disease are discussed, as well as the tissue whether the course of treatment would be changed accordingly to the PCR test results.     

Limbic encephalitis with antibodies to glutamic acid decarboxylase presenting with brainstem symptoms

Limbic encephalitis (LE) is a neurological syndrome that may present in association with cancer, infection, or as an isolate clinical condition often accompanying autoimmune disorders. LE associated with glutamic acid decarboxylase antibodies (anti-GAD) is rare in children. Here, we characterized the clinical and laboratory features of a patient presenting with brainstem involvement with non-paraneoplastic LE associated with anti-GAD antibodies. In our patient, after plasma exchange, we determined a dramatic improvement of the neurological deficits.     

Congenital ataxia and mental retardation in three brothers

Nonprogressive congenital ataxia is a complex group of disorders caused by a variety of etiologic factors, both environmental and genetic. Hereditary forms represent a substantial part of congenital ataxias, which are difficult to classify because of their phenotypic and genetic polymorphism. Despite the advances in molecular genetics, for most nonprogressive congenital ataxia the etiology is still unknown. This report describes three sons of nonconsanguineous healthy parents, who manifested a syndrome characterized by nonprogressive ataxia, mental retardation, pyramidal signs, ocular and ocular motor anomalies, associated with severe hypoplasia of the cerebellar vermis and hemispheres on neuroimaging. All the patients have presented psychomotor developmental delay. As differential diagnosis, a comparison is made between the clinical features of these patients and the previously reported cases of nonprogressive congenital ataxia. This report represents a further example of the phenotypic and genetic heterogeneity of the syndromes with congenital ataxia.     

脑干脑炎20例临床分析

目的分析脑干脑炎的临床特点.方法对20例脑干脑炎患者的发病年龄、性别、临床表现、辅助检查进行分析,探讨其临床特点.结果男性发病率高,青壮年居多,多侵犯桥脑至延髓锥体交叉以上,可合并其他部位受累,脑脊液改变不明显,MRI可发现病灶.结论脑干脑炎病因不明,病原学常难以明确,推测是病毒感染后自身免疫损伤所致,呈单相良性病程,激素治疗有效,预后良好.     

Safety and efficacy of ECT in mental disorders associated with epilepsy: report of three cases

SUMMARY: The authors report on the use of electroconvulsive therapy (ECT) in the treatment of three patients with mental disorders associated with epilepsy. They discuss several aspects related to safety, efficacy, and indications of ECT in these patients. The observed results, as well as published data, provide evidence that ECT is a safe and effective therapeutic option for some patients with mental disorders associated with epilepsy. The indications are the same as in patients without epilepsy. There might be another possible indication for patients with alternative mental disorders (forced normalization), although improvement after spontaneous seizures may not always predict response to ECT.     

An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia.

We herein report the findings of an autopsy case of spinocerebellar ataxia type 6 (SCA6) which revealed a mild CAG-repeat expansion in the alpha1A voltage-dependent calcium channel (CACNL1A4) gene on chromosome 19p13. A 39-year-old man who showed slowly progressive mental disorders and gait ataxia was clinically diagnosed to have cortical cerebellar atrophy (CCA) and schizophrenia. None of his relatives revealed any symptoms such as spinocerebellar disease, however, his younger brother had shown some mental disorders. The patient eventually died at 52 years of age, and an autopsy was thus performed. The main histopathological findings included a severe neuronal cell loss of Purkinje cells and inferior olivary nuclei. The number of Purkinje cells in our case had decreased severely in comparison to that in either OPCA or age-matched control cases, and the Purkinje cells in the cerebellar hemisphere were more affected than those in the cerebellar vermis. The neurons of the dentate nucleus and pontine nuclei were well-preserved, and no pathological changes were seen in cerebral cortices or basal ganglia. The clinicopathological findings were similar to those of late cortical cerebellar atrophy (LCCA), Holmes' cortical cerebellar atrophy (Holmes type) or SCA6 cases reported previously. Using genomic DNA extracted from archival paraffin-embedded sections in the frontal lobe, cerebral basal ganglia and cerebellum, the identical mild CAG-repeat expansions in the CACNL1A4/SCA6 gene were revealed in all samples examined. These findings suggest that in cases with LCCA or Holmes type atrophy, we should thus examine the CAG-repeat expansions in the SCA6 gene, and the genomic DNA extracted from paraffin-embedded sections was thus found to be useful in diagnosing SCA6 retrospectively.     

Combined HIV-CMV encephalitis presenting with brainstem signs.

Two cases of combined HIV-CMV encephalitis are described. One presented with a sixth nerve palsy and a tetraparesis, the other with an internuclear ophthalmoplegia. Pathologically brain stem involvement was predominantly due to CMV.     

Pre-eruptive varicella encephalitis and cerebellar ataxia.

Varicella-related neurologic symptoms usually appear during or following the exanthem. Pre-eruptive neurologic manifestations are extremely rare. We report a 6-year-old boy who developed encephalitis, characterized by drowsiness and left-sided hyperactive deep tendon reflexes and cerebellar ataxia, both of which antedated the exanthem by 16 days. The diagnostic and public health implications are discussed.     

Os odontoideum: report of three cases.

Os odontoideum is a condition in which a smoothly corticated ossicle exists dorsal to the anterior arch of C1, taking the place of the rostral dens, but with no bony connection to the body of the axis. Three patients presented with this condition: the first with Lhermitte's phenomenon 10 years after significant trauma, the second as an incidental finding during routine cervical spine imaging following a road traffic accident, and the third with recurrent transient quadriparesis precipitated by falls from a surfboard. Patients had at least 10 mm of sagittal instability on dynamic imaging and the second patient had a minimum sagittal canal diameter of only 11.5 mm. Posterior atlanto-axial fixation was successfully achieved in all cases using polyaxial screws and rods with the assistance of computed tomography-based image guidance. Image guidance provided an invaluable aid to preoperative planning and intraoperative placement of the posterior spinal instrumentation.     

抗GABA_B受体脑炎5例报道及文献复习

目的探讨抗γ-氨基丁酸受体(GABA_BR)脑炎的临床特点及诊治。方法对5例抗GABA_BR脑炎患者临床表现、辅助检查等进行回顾性分析及文献回顾。结果 5例抗GABA_B抗体阳性患者均亚急性起病,表现为难治性癫痫,其中1例以性格改变、2例以抽搐、2例以记忆减退为首发症状。3例患者头部MRI显示边缘系统异常高信号,3例脑电图显示异常,2例脑脊液检查合并其它自身免疫抗体,2例肺部CT或PET-CT扫描提示肺部占位。经给予丙球或激素治疗明显好转。结论 (1)抗GABA_B受体脑炎首发症状多样,主要表现为难治性癫痫。(2)对于怀疑边缘性脑炎(LE)患者应筛查抗GABA_B受体抗体。(3)对抗GABA_B受体抗体阳性的患者应该积极进行肿瘤的筛查。     

抗GABA_B R脑炎5例病例报告及文献复习

目的探讨5例抗GABABR脑炎的临床特点及诊治。方法对患者的临床表现、头部影像学、脑电图特点、脑脊液检查等进行回顾性分析及相关文献回顾。结果 5例抗GABABR脑炎患者亚急性起病、病前无感染史,均以抽搐起病,有2例伴有精神症状。1例患者头部MRI右侧海马异常高信号。脑电提示部分性发作。腰椎穿刺:CSF 2例压力升高,蛋白轻度增高或正常,白细胞(20~116×106/L,单核为主),糖正常。CSF+血抗GABABR抗体阳性。肺部CT或PET-CT扫描提示肺部占位。经糖皮质激素或丙种球蛋白治疗好转。结论 (1)头部MRI、脑电图、CSF+血抗GABABR抗体检测利于抗GABABR脑炎早期诊断;(2)抗GABABR脑炎患者应积极查找可能肿瘤,尤其肺部占位,PET-CT检查对于肺CT检查阴性者有益。