Search

Restless legs syndrome (RLS) may severely affect the quality of life of patients. A deficient iron incorporation into the central nervous system has an important role in the pathophysiology of RLS. Severely affected patients may not respond to current therapeutic options. We report a preliminary experience with five patients with severe RLS and low serum ferritin levels who did not improve with oral iron. All were treated with 1 g of intravenous iron carboxymaltose. They experienced a marked improvement in symptoms, evident even during the first week of therapy that had persistent after up to two years of follow-up. A significant change in the RLS severity scale was observed after intravenous iron. Serum ferritin levels increased in all of them. Intravenous iron could be a therapeutic option for patients with severe RLS.

Restless legs syndrome (RLS) may severely affect the quality of life of patients. A deficient iron incorporation into the central nervous system has an important role in the pathophysiology of RLS. Severely affected patients may not respond to current therapeutic options. We report a preliminary experience with five patients with severe RLS and low serum ferritin levels who did not improve with oral iron. All were treated with 1 g of intravenous iron carboxymaltose. They experienced a marked improvement in symptoms, evident even during the first week of therapy that had persistent after up to two years of follow-up. A significant change in the RLS severity scale was observed after intravenous iron. Serum ferritin levels increased in all of them. Intravenous iron could be a therapeutic option for patients with severe RLS.

Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.

Background: The French writer Guy de Maupassant is considered one of the most important story-tellers of all times. In his short life, he produced relevant works which are full of interesting medical descriptions, as sleep palsy and unconscious memory, depicted on his famous tale The Horla. Furthermore, many of his novels and tales contain precise and very insightful descriptions of physicians, many of whom he contacted because of suffering severe migraine. Maupassant became psychotic on his last years as a result of neurosyphilis and died in an asylum. In this review, we analyze some medical aspects of his intense life and provide references of unknown medical descriptions in his works.

Gerard de Nerval was a French writer, poet and essayist, precursor of surrealism that used for the first time this word in literature and influenced many modern writers. Since the age of 32, Nerval had recurrent psychotic episodes mixed with a severe depression, leading to many hospitalizations, and finally to his death. This mental disease clearly influenced his works and provided originality to his prose and poetry. However no clear explanation has ever been given to his mental disorder. We analyzed the clinical data available from his own works and the opinion of his close friends and postulate the hypothesis that Nerval had a mood disorder.

Gerard de Nerval was a French writer, poet and essayist, precursor of surrealism that used for the first time this word in literature and influenced many modern writers. Since the age of 32, Nerval had recurrent psychotic episodes mixed with a severe depression, leading to many hospitalizations, and finally to his death. This mental disease clearly influenced his works and provided originality to his prose and poetry. However no clear explanation has ever been given to his mental disorder. We analyzed the clinical data available from his own works and the opinion of his close friends and postulate the hypothesis that Nerval had a mood disorder.