Case Reports in Neurological Medicine最新文献

We report a very rare case in which a patient believed to have auriculotemporal neuralgia due to the repeated recurrence of paroxysmal stabbing pain in the preauricular temporal region for four years developed occipital neuralgia, which finally improved with decompression of the greater occipital nerve (GON). The pain of occipital neuralgia has been suggested to be referred to the frontoorbital (V1) region through trigeminocervical interneuronal connections in the trigeminal spinal nucleus. However, the reports of such cases are very rare. In occipital neuralgia, the pain referred to the ipsilateral facial trigeminal region reportedly also occurs in the V2 and V3 distributions in addition to that in the V1 region. In the existing cases of referred trigeminal pain from occipital neuralgia, continuous aching pain is usually induced, but in the present case, typical neuralgic pain was induced and diagnosed as idiopathic auriculotemporal neuralgia. In addition, recurrent trigeminal pain occurred for four years before the onset of occipital neuralgia. If the typical occipital neuralgia did not develop in four years, it would be impossible to infer an association with the GON. This case shows that the clinical manifestations of referred trigeminal pain caused by the sensitization of the trigeminocervical complex by chronic entrapment of the GON can be very diverse.

Pulmonary arteriovenous malformation is an uncommon though important potential source for embolic right-to-left extracardiac shunt as a cause for both silent and clinically evident stroke. We present this case to highlight this pathology as a cause for stroke, the importance of treating this malformation, even if incidentally identified, and finally the role of echocardiography in screening for extracardiac shunt and indicating those patients that may benefit from further investigations looking for extracardiac shunt.

Research in the last few years has indicated that most voltage-gated potassium channel- (VGKC-) complex antibodies without leucine-rich glioma-inactivated protein 1 or contactin-associated protein-like 2 antibody specificity lack pathogenic potential and are not clear markers for autoimmune inflammation. Here we report on a patient with double-negative VGKC who developed severe peripheral nerve hyperexcitability, central nervous system symptoms with agitation and insomnia, dysautonomia, and systemic symptoms with weight loss, itch, and skin lesions. The disease started acutely one month after an episode of enteroviral pericarditis and responded well to immunotherapy. The patient is presumed to have developed a postinfectious immunotherapy-responsive autoimmune disease. In the setting of anti-VGKC positivity, it seems likely that anti-VGKC contributed to the pathogenesis of the patient's symptoms of nerve hyperexcitability and that the disease was caused by an acquired autoimmune effect on the neuronal kinetics of VGKC. It is still unknown whether or not there are unidentified extracellular molecular targets within the VGKC-complex, i.e., a novel surface antigen and a pathogenic antibody that can cause affected individuals to develop a peripheral nerve hyperexcitability syndrome. This case highlights the fact that less well-characterized autoimmune central and peripheral nervous system syndromes may have infectious triggers.

Moyamoya disease (MMD) is a chronic cerebrovascular occlusive disease that is characterized by progressive bilateral stenosis of the terminal portion of the internal carotid artery and its main branches. Cerebrovascular events are the primary presenting symptoms and are related both to stenosis and occlusion of the ICAs and their main branches. Detection of bilateral stenosis by cerebral angiography is considered the gold standard, but computed tomography angiography (CTA) is also an acceptable method of diagnosis. In the current literature, there are no precise data on the incidence of moyamoya disease in Europe and the United States. Also, the pathogenesis of MMD remains obscure, and genetic factors and inflammation are the two most representative mechanisms. Here, we report the case of MMD in a 29-year-old African American female who presented with an ischemic stroke for the second time that manifested after pregnancy. This case is important to increase awareness of the probability of this rare disease in Western countries as well as to call attention to pregnancy's accelerating effects of MMD. Careful, long-term neurologic and radiologic follow-up is essential in adult patients with MMD to prevent additional stroke events and improve outcomes.

Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders affecting the peripheral nervous system. The common clinical manifestations of the disease are distal muscle weakness and atrophy, often associated with a characteristic steppage gait and foot deformities. Transient acute and recurrent or chronic central nervous system manifestations, predominantly, dysarthria, dysphagia, motor weakness, and ataxia, have been recognized as a feature of the X-linked type 1 of CMT (CMTX1). The CNS symptoms occur typically in young age and often precede the clinical manifestation of the polyneuropathy. Several predisposing factors such as exercise, fever, and returning from areas of high altitude have been described as triggers of the CNS symptoms; however, in many cases, a substantial cause remains undetermined. In this report, we describe a patient with three attacks of transient CNS deficits at the ages of 11, 21, and 38 years, respectively, which were also accompanied by transient white matter abnormalities on MRI. Two of the attacks occurred after prolonged exposure to sunlight. In our knowledge, this is the first documented case with such long latency periods between CNS attacks as well as the only report describing intense sun exposure as a possible provoking factor.

Sarcoidosis is a multisystemic inflammatory disease of unknown cause. It is characterized by the presence of noncaseating granuloma on a biopsy specimen. Clinical presentation varies across case report series with myriad of symptoms ranging from fever, respiratory symptoms, and skin lesions, or atypical symptoms like heart block or neurological symptoms. Hence, we report the case of a 22-year-old woman with encephalitis, a pituitary mass, and adipsic diabetes insipidus. The diagnostic approach did not end on the biopsy of the lesion, which reported noncaseating granulomas; on the contrary, it was the beginning of a path to exclude other causes of the central nervous system granulomas that ended with the diagnosis of the isolated central nervous system sarcoidosis. Also, we report the first proven association between anti-NMDA receptor antibodies and sarcoidosis.

Rasmussen's encephalitis (RE) is a rare progressive inflammatory disease of the central nervous system. It is characterized by unilateral hemispheric atrophy, pharmacoresistant focal seizures, and progressive neurological deficit. The exact etiopathogenesis still remains unknown. Brain imaging plays an important role in diagnosis and follow-up. Fluctuation of lesions in brain imaging was reported in few cases. Herein, we report an additional pediatric case of Rasmussen encephalitis with fluctuating changes in brain MRI.

Intractable epilepsy remains a significant medical challenge, resulting in recurrent and prolonged intensive care unit (ICU) admissions. Autoimmune encephalitis is emerging as a treatable cause of intractable epilepsy. It is characterized by antibodies against cerebral antigens, such as potassium channels such as leucine-rich, glioma inactivated 1 (LGI1) and contactin-associated protein 2 (CASPR2), calcium channels such as the voltage-gated calcium channel (VGCC), or neurotransmitter receptors such as the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR), gamma aminobutyric acid receptor (GABAR), and N-methyl-D-aspartate receptor (NMDAR). Diagnosis requires a syndrome consistent with an antibody identified in serum or cerebrospinal fluid (CSF) using methods that minimize risk of false-positives. Although there is no officially approved therapy for these disorders, typical approaches involve chronic high-dose steroids, intravenous immunoglobulin (IVIG), or plasma exchange. Rituximab is effective for antibody-associated disorders such as lupus, myasthenia gravis, and neuromyelitis optica. Here, we present three patients who were admitted with recalcitrant status epilepticus and demonstrated serum antibodies against NMDAR, LGI1, or VGCC using a cell-based assay. All patients demonstrated complete, long-term epilepsy control and improvement in symptoms with rituximab.

Susac's syndrome is a rare and debilitating disease characterized by the triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. All manifestations may not be clinically apparent at presentation resulting in delayed diagnosis. Early recognition of the syndrome may prevent disease sequelae such as permanent cognitive, visual, and hearing loss. We present such a case of Susac's syndrome that was also refractory to conventionally prescribed combination of immunosuppressive treatments including high-dose potent corticosteroids, intravenous cyclophosphamide, methotrexate, plasma exchange, rituximab, and mycophenolate. His disease was stabilized with infliximab in combination with a tapering course of low-dose prednisone. After 2 years of remission with TNF treatment, consideration is being given to ceasing therapy. He has the sequelae of bilateral sensorineural hearing loss but no visual impairment or cognitive deficits on follow-up with neuropsychometric testing. This is the first case report to our knowledge of the successful use of infliximab for a patient with Susac's syndrome that was necessary following treatment with cyclophosphamide and then rituximab.