New-onset Myasthenia Gravis after SARS-CoV-2 infection: case report and literature review

Journal of Neurology - We report the case of a 19-year-old female patient who developed Myasthenia Gravis 13 days after SARS-CoV-2 infection with positive RT-PCR testing. Her symptoms...     

雷帕霉素治疗结节性硬化症合并婴儿痉挛症一例报告并文献复习

目的 探讨雷帕霉素治疗结节性硬化症合并婴儿痉挛症的临床疗效. 方法 对解放军总医院儿童医学中心2011年6月收治的1例结节性硬化症合并婴儿痉挛症患儿应用雷帕霉素治疗前后的临床表现、辅助检查方法、治疗结果等进行回顾性分析. 结果 患儿有明显的皮肤损害,主要表现为色素脱失斑,同时合并婴儿痉挛症,头颅MRI及CT均有异常改变.患儿应用雷帕霉素治疗3个月后可见色素脱失减轻,痉挛发作较前明显减少,头颅MRI显示室管膜下结节较前减小,脑电图较前改善,智能发育进步,且治疗过程中未见明显不良反应. 结论 应用雷帕霉素治疗结节性硬化症合并婴儿痉挛症有显著疗效,安全性好.     

Psychiatric symptoms in a patient with isolated adrenocorticotropin deficiency: case report and literature review

We report a 59-year-old man with isolated adrenocorticotropin (ACTH) deficiency. The patient presented with sudden onset of delusions and hallucinations at the age of 54, which resolved gradually without treatment. Subsequently, the patient manifested stereotypy, wandering, hypobulia, and autistic symptoms, and was treated with antipsychotics for 1 year without any improvement. He suffered from neuroleptic malignant syndrome-like symptoms at the age of 59. A thorough endocrine assessment revealed isolated ACTH deficiency. After hydrocortisone supplementation, the physical and psychiatric symptoms improved dramatically. Clinicians should consider this rare disease when diagnosing patients with refractory psychiatric symptoms and unique physical symptoms of isolated ACTH deficiency.     

McArdle''s disease with late-onset symptoms: case report and review of the literature.

McArdle's disease with late-onset symptoms is an unusual cause for muscle disease in older patients. The case of a patient with McArdle's disease whose symptoms began at 60 years of age is presented, and seven previous cases of late-onset McArdle's disease reported since 1963 are discussed. In five of the eight patients, the clinical presentation was similar to the early onset disorder with exercise intolerance, cramps, and myoglobinuria. In contrast, the remaining three patients presented with fixed proximal limb and bulbar weakness. Electromyography confirmed a myopathic process in four of four patients. Results of the forearm ischaemic exercise test were positive in seven of seven patients with complete myophosphorylase deficiency; results of muscle biopsies were diagnostic in all patients. McArdle's disease with late-onset symptoms is rare and clinically more variable than the early onset disorder.     

Spinal cord tumor in a patient with multiple sclerosis: case report

The association between multiple (MS) sclerosis and cerebral gliomas has been sporadically reported in the literature, causing a long lasting discussion if these lesions occur coincidentally or if MS plaques may actually lead to the genesis of gliomas. We report a 36 year old man who developed a rapid onset of right side weakness and loss of vision, having established a diagnosis of MS which was confirmed by CSF analysis and MRI. Nine years later he developed progressive tetraparesis, leading initially to suspicion of illness relapse and a demyelinating plaque in the spinal cord. However, after MRI investigation, a spinal cord tumor was diagnosed. The patient underwent cervical spine laminotomy for microsurgical removal of the spinal cord tumor diagnosed as ependymoma. The neurological deficits improved significantly.     

Acute transverse myelitis following SARS-CoV-2 vaccination: a case report and review of literature

Journal of Neurology - To report a unique case and literature review of post COVID-19 vaccination associated transverse myelitis and with abnormal MRI findings. Coronavirus disease have been...     

Autoimmune disease in people with multiple sclerosis and their relatives: a systematic review and meta-analysis

Additional autoimmune diseases in people with multiple sclerosis (MS) and their relatives have been studied many times. Studies have employed different designs, and yielded conflicting results. We performed a systematic review, and calculated overall risk of additional autoimmune diseases in people with MS and their first-degree relatives. PubMed and Web of Science were searched. Thyroid disease, diabetes, inflammatory bowel disease, psoriasis, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) were studied. A generic inverse variance model was used, and subgroup analysis was used to explore heterogeneity. The OR of thyroid disease was increased in both people with MS (OR 1.66; p < 0.00001) and their relatives (OR 2.38; p < 0.00001). A similar association was seen between MS and inflammatory bowel disease (OR 1.56; p < 0.0001) and psoriasis (OR 1.31; p < 0.0001), although not in relatives. There was no increase in the rate of either SLE or RA. Studies examining diabetes showed significant heterogeneity and evidence of publication bias. There is an increase in the rate of certain autoimmune diseases in people with MS and their first-degree relatives. However, this does not extend to all conditions studied. Given the nonspecific clinical presentation of thyroid disease, it should be considered in all people with MS presenting with nonspecific symptoms.     

Pregnancy outcomes in alemtuzumab treated women with multiple sclerosis: a case series

Data on pregnancy outcome in alemtuzumab-treated women are scarce and derived from safety reports of clinical trials. We report on seven women with overall eight pregnancies during treatment with alemtuzumab in a real-world setting. All pregnancies occurred within 9 months after alemtuzumab treatment, and two of them within 4 months despite patients being informed on pregnancy prevention. We found one congenital cytomegalovirus infection, one spontaneous abortion, one elective abortion due to extrauterine pregnancy, and five live births without congenital abnormalities or birth defects.

     

Pneumocephalus after shunt in a patient with hydrocephalus. A case report and review of the literature

Pneumocephalus in hydrocephalic shunted patients is very rare. So far only 46 cases have been described in the literature. A case of pneumocephalus in a patient with shunted hydrocephalus, and the diagnostic and therapeutic problems were described. A 38-year-old woman suffered from a subacute headache, dizziness and bradyphrenia. Eight years ago, the ventriculo-atrial shunt was implanted due to idiopathic hydrocephalus, and the shunt was changed 2 months before the present admission (ventriculo-peritoneal valve). CT and MRI revealed pneumocephalus, but neither clinical nor radiological symptoms of the CSF fistula were found. After temporary ligation of a distal catheter, the anterior fossa and a sellar area were directly repaired via right fronto-temporal craniotomy, with a good outcome. In the case of pneumocephalus in hydrocephalic shunted patients, the direct closure of the skull base fistula via craniotomy combined with restoration of the proper shunt function is usually the most effective treatment. If the site of the fistula can not be established, dural cranioplasty in the most likely site of the fistula is recommended.     

一例典型的同心圆性硬化报告并文献复习

同心圆性硬化(Balo病)是一种罕见的中枢神经系统脱髓鞘疾病,我们最近收治一典型病例,现报告如下。患者,女,49岁,当地农民。因“头晕头痛半年,左侧肢体乏力1月余”于2005年11月10日入院。患者于半年前无明显诱因下开始出现头晕头痛,以劳累后为主,休息后可缓解,当     

Myelin oligodendrocyte glycoprotein antibody-associated disease in a patient with symptoms of aseptic meningitis who achieved spontaneous remission: A case report and review of the literature

BackgroundA few case reports have described patients with myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated demyelinating syndrome who presented with symptoms of aseptic meningitis. All such patients required immunotherapy. We report a patient with MOG-Ab-associated disorder (MOGAD) who presented with symptoms of aseptic meningitis and improved without treatment.CaseA 13-year-old girl presented with fever, headache, decreased appetite, and neck stiffness. Cerebrospinal fluid (CSF) analysis revealed pleocytosis and magnetic resonance imaging (MRI) showed leptomeningeal enhancement. The patient was diagnosed with aseptic meningitis at admission. However, there were no signs of recovery 4 days after admission (i.e., 8 days after disease onset). Therefore, we performed extensive investigations to identify the cause of the underlying infection and inflammation. On day 14 after admission, the serum MOG-Ab test performed at admission came back positive (1:128) and she was diagnosed with MOGAD. She was discharged on day 18 after admission, because her symptoms, CSF pleocytosis, and MRI findings had improved. About 6 weeks after discharge, MRI revealed hyperintensity without gadolinium enhancement. However, her serum MOG-Ab test was negative. We did follow-ups for 11 months but found no new neurological symptoms.Discussion and ConclusionTo the best of our knowledge, this is the first ever report of a pediatric patient with MOGAD experiencing spontaneous remission with no demyelinating symptoms during an extended follow-up period.