Transient, Recurrent Central Nervous System Clinical Manifestations of X-Linked Charcot-Marie-Tooth Disease Presenting with Very Long Latency Periods between Episodes: Is Prolonged Sun Exposure a Provoking Factor?Read the full article
Case Reports in Neurological Medicine publishes case reports and case series focusing on diseases of the nervous system, as well as abnormal neurological function.
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Neurosarcoidosis Presentation as Adipsic Diabetes Insipidus Secondary to a Pituitary Stalk Lesion and Association with Anti-NMDA Receptor Antibodies
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: A Report of a Tunisian Pediatric Case and Literature Review
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.
Rituximab for Autoimmune Encephalitis with Epilepsy
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.
The Successful Use of Infliximab in a Relapsing Case of Susac’s Syndrome
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.
Anti-NMDAR-Positive Small-Cell Lung Cancer Paraneoplastic Limbic Encephalitis: A Case Report and Literature Review
Introduction. Paraneoplastic limbic encephalitis (PLE) is a rare disease that presents as rapid onset dementia characterized by short-term memory loss (STM), anxiety, and behavioral changes. Anti-NMDAR antibodies are unfrequently reported in PLE associated with small-cell lung cancer (SCLC). Given that PLE can precede the diagnosis of cancer, it is very important that once infectious, metabolic, nutritional, or structural disorders associated with short-term memory loss are ruled out that vigorous effort must be made to rule out underlying malignancy. Case. We report a rare case of PLE as the presenting symptom of SCLC. A 72-year-old male with history of COPD was brought to the ED by his wife after he was found to have short-term memory loss, including forgetfulness of his wedding anniversary the day before, and anxiety. Neurological exam showed impaired short-term recall on MOCA. CT head showed no evidence of infarct. Lumbar puncture was performed which showed lymphocytic pleocytosis, a nonspecific inflammatory change. CSF panel was negative for HSV, Neisseria, Hemophilus, E. coli, and HIV. Initial EEG was unremarkable, though a repeat EEG showed mild slowing of the posterior dominant rhythm consistent with mild encephalopathy. MRI showed equivocal increased FLAIR on T2-weighted images in the bilateral temporal lobes, left greater than right. CTA thorax showed bulky mediastinal and right hilar LAD. FNA of the R4 lymph node revealed SCLC. The NM bone scan showed no osteoblastic lesions. While the serum autoantibody panel was positive for anti-NMDAR, the CSF autoantibody panel returned entirely negative. Chemotherapy with etoposide and cisplatin was started on Day 4 of admission. The patient’s neurological symptoms showed improvement following chemotherapy. Conclusion. This case highlights the importance of recognizing short-term memory loss as a feature of PLE.
Acute Brainstem Dysfunction Caused by Cavernous Sinus Dural Arteriovenous Fistula
Symptoms of cavernous sinus dural arteriovenous fistula depend on the drainage patterns and are very diverse. Among these, brainstem dysfunction is a rare but serious complication. Here, we describe a case with isolated and rapidly progressive brainstem dysfunction due to cavernous sinus dural arteriovenous fistula. An 80-year-old woman presented with a 2-day history of progressive gait disturbance. Neurological examination revealed mild confusion, dysarthria, and left hemiparesis. Magnetic resonance imaging (MRI) revealed pontine swelling without evidence of infarction. Magnetic resonance angiography suggested a faint abnormality near the cavernous sinus. Dural arteriovenous fistula was suspected, and digital subtraction angiography was planned for the next day. Her condition had progressed to coma by the next morning. Pontine swelling worsened, and hyperintensity appeared on diffusion-weighted imaging. Digital subtraction angiography revealed a right-sided cavernous sinus dural arteriovenous fistula with venous reflux into the posterior fossa. Orbital or ocular symptoms had preceded brainstem symptoms in all nine previously reported cases, but brainstem symptoms were the only presentation in our case, making the diagnosis difficult. Some dural arteriovenous fistulas mimic inflammatory diseases when the clinical course is acute. Prompt diagnosis using enhanced computed tomography or MRI and emergent treatment are needed to avoid permanent sequelae.