Intravascular Lymphoma with Progressive CNS Hemorrhage and Multiple DissectionsRead 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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Conversion Disorder: Early Diagnosis and Personalized Therapy Plan Is the Key
Conversion disorder is characterized by one or more symptoms of altered voluntary motor or sensory functions that cannot be explained by a neurological disease (Keynejad, 2019; Samuels et al., 2019). We present a patient with conversion disorder and discuss her process in overcoming this disorder. Additionally, we review the literature about this specific disorder. A 15-year-old white female was diagnosed with conversion disorder and has shown significant recovery with physical therapy and group therapy since. It is essential to recognize this disorder early to lessen the financial burden on families and to speed up the recovery process for these patients.
Anti-NMDAR Encephalitis: Higher Suspicious Needed for Earlier Diagnosis (Case Report, Literature Review and Diagnostic Criteria)
Background. Auto-immune mediated anti-NMDA receptor encephalitis is a very common delayed diagnosed encephalitis which predominately affecting young population. Objectives. This encephalitis is relatively unknown amongst emergency physicians and a majority of patients are admitted to psychiatric wards before their diagnosis is confirmed and appropriate treatments are commenced. We reported a case of a 22-year-old female presented to our emergency department with acute psychiatric symptoms. She was initially diagnosed with first presentation of acute psychosis and was hospitalised under mental health act. further assessment in the emergency department identified possible an organic cause for her acute psychosis and she was later admitted under medical team after her mental health assessment order was revoke. Several days later, her CSF result was positive with anti-NMDA receptor anti-bodies. Appropriate treatments were instituted leading to her full recovery. Conclusion. This case was the first confirmed anti-NMDA receptor encephalitis in our emergency department. It highlights the importance of thorough assessment of psychiatric presentations to emergency departments and consideration of auto-immune medicated encephalitis as one of the differential diagnosis in young patients presenting with first acute psychotic episode.
MELAS Missed for Years: Stroke-Like Lesions Are No Indication for Brain Biopsy
A 56-year-old female with a history of chronic alcoholism until age 38 y with a relapse between ages 45 and 46 y developed seizures, psychosis, and hemianopia to the left at age 46 y. Imaging revealed a right parieto-occipital lesion with intralesional bleeding. Five months after the first lesion she developed a second left parieto-occipital lesion, resulting in cortical blindness. Extensive workup, including brain biopsy, was noninformative. Retrospectively, the occipital abnormalities were identified as stroke-like lesions (SLLs). Further manifestations of the mitochondrial disorder (MID) were tremor, cerebral atrophy, bilateral basal ganglia, calcification, glaucoma, hypoacusis, short stature, hyperostosis frontalis, hyperthyroidism, sick-sinus syndrome and AV-block-1, and myopathy. According to the Walker criteria, a possible MID was diagnosed. In conclusion, adult-onset MID may be missed for years, SLLs may be easily misinterpreted entailing brain biopsy, and psychosis may contribute to a reduced impact for proper workup of a MID.
A Case Report of Extensive Cerebral Venous Sinus Thrombosis as a Presenting Sign of Relapsing Nephrotic Syndrome
Nephrotic syndrome is defined by three characteristic features including proteinuria of >3 g in 24 hours, hypoalbuminemia of less than 3 g/dL, and peripheral edema. Multiple nephropathies can result in nephrotic syndrome. Most commonly, minimal change disease is seen in children under the age of 10, while adults are more commonly found to have membranous nephropathy. Hypercoagulability and thrombotic sequela can be seen in nephrotic syndrome, regardless of underlying etiology, and thrombosis is most commonly seen in deep veins of the lower extremities and renal veins. Our case identifies an adult with previously diagnosed and treated for minimal change disease who presented with weight gain, peripheral edema, foamy urine, headache but no neurologic deficits. The patient was found to have near to complete occlusion of the entire superior sagittal sinus, near complete occlusion of the left transverse and sigmoid sinuses, and nonocclusive thrombus in the right sigmoid sinus. She was treated with heparin and IV steroids then transitioned to warfarin and PO steroids, respectively, with resolution of symptoms. This case report emphasizes on the importance of recognizing CVST as a potential complication of nephrotic syndrome at both initial presentation and relapse.
Duodenal Neuroendocrine Tumour Presenting as GABA B Receptor Autoimmune Encephalitis
GABA B receptor antibody positive autoimmune encephalitis is rarely seen in clinical practice. It is usually associated with small cell lung carcinoma, and occasionally with neuroendocrine tumour (NET) of lung. GABA B receptor antibody can be associated with other autoimmune antibodies like antinuclear antibody and antibody to Glutamic acid decarboxylase. We present a case with GABA B receptor autoimmune encephalitis associated with neuroendocrine tumour of the duodenum with special emphasis on correlation between immunostaining of the tumour and presence of GABA B receptor antibody.
Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cachexia, palpebral ptosis, ophthalmoparesis, sensorimotor polyneuropathy and leukoencephalopathy. The diagnosis is established by the presence of typical clinical and neuroimaging features, positive family history, and abnormal genetic test. A 19-year-old Cape Verdean patient with a history since childhood of recurrent episodes of nausea, vomiting, diarrhoea and painful abdominal distension associated with progressive motor disability with difficulty in climbing stairs and running and clumsiness with her hands. The diagnostic workup was suggestive of MNGIE. Genetic screening of the TYMP gene identified a novel mutation (c. 1283 G>A). Patients with MNGIE have significant comorbidity and mortality, and they are frequently misdiagnosed. A better acknowledgment of this disorder is essential to permit an earlier diagnosis and to improve disease management.