Exaggerated acute and late toxicities following radiotherapy have been reported in patients with pre-existing connective tissue diseases, such as systemic lupus scleroderma. Behcet’s disease (BD) is a relapsing multisystem characterized by vasculitis the mucocutaneous, ocular, gastrointestinal, respiratory, neurologic, urogenital, articular, cardiovascular systems. Data concerning relationship ...

Paraneoplastic neurologic syndromes (PNSs) occur with increased frequency in patients with cancer and almost always antedate its diagnosis. These syndromes comprise a heterogeneous group of cancer‐related neurologic diseases, and they may affect any part of the nervous system. The simultaneous involvement of different areas of the nervous system by the paraneoplastic process is not unusual. Unt...

Motor neuron disease encompasses a group of progressive neurologic disorders that destroy cells responsible for the control of essential muscles. The disorders are characterized by progressive weakness, muscle atrophy and fasciculation, spasticity, dysarthria, dysphagia, and respiratory compromise. A 66-year-old male presented to the emergency department with progressive dyspnea and, ultimately...

Genes encoding proteins critical for intracellular vesicular transport are an emerging area of importance for neurologists. In particular, proteins that create and maintain the correct compartmental pH, such as the endosomal Na(+)/H(+) exchangers (NHEs), have been implicated in a wide range of human diseases, including cardiovascular, inflammatory bowel, renal, and neurologic disorders, which d...

OBJECTIVE To present an eight-case serie of patients with Charles Bonnet syndrome (CBS). METHOD All patients were initially evaluated by an ophthalmologist and then submitted to a neurologic evaluation with exclusion of alternative psychiatric and neurologic diagnoses. RESULTS Five patients were male (62.5%) and the mean age was 52.3+16.0 years. Two patients suffered from severe myopia and ...

Despite a long history, Wilson’s disease, an autosomal recessive disease caused by mutations in the ATP7B gene, remains a commonly misdiagnosed import disease. Mutations in ATP7B result in abnormal copper metabolism and subsequent toxic accumulation of copper. Clinical manifestations of neurologic Wilson’s disease include variable combinations of dysarthria, dystonia, tremor, and choreoathetosi...

Disorders of sodium and water balance are common in critically ill adult neurologic patients. Normal aspects of sodium and water regulation are reviewed. The etiology of possible causes of sodium disturbance is discussed in both the general inpatient and the neurologic populations. Areas of importance are highlighted with regard to the differential diagnosis of sodium disturbance in neurologic ...

Diffusion-weighted magnetic resonance (MR) imaging provides image contrast that is different from that provided by conventional MR techniques. It is particularly sensitive for detection of acute ischemic stroke and differentiation of acute stroke from other processes that manifest with sudden neurologic deficits. Diffusion-weighted MR imaging also provides adjunctive information for other cereb...

Cobalamin deficiency is associated with a wide spectrum of hematologic, neurologic, gastroenterologic and psychiatric disorders or symptoms. We report a case of a 50-year-old man with complex partial seizures with secondary generalization, mood oscillations and psychotic symptoms alternating with confusion and reversible dementia secondary to cobalamin deficiency in the absence of typical neuro...

OBJECTIVES To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three. RESULTS Three patients manifested isola...