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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.

Johann Sebastian Bach suffered during the last year of his life of a progressive visual defect despite two operations done by a famous but quite controversial English ocular surgeon of that time. The exact diagnosis of his ocular problems is unclear but cataracts and complicated glaucoma seem the most plausible. A septic complication following the ocular surgery could have weakened Bach's health leading to his death only three months after the last intervention. In this paper diverse less known aspects of Bach's disease and life are reported.

The main adverse effects of dopaminergic drugs used in Parkinson's disease are hypotension, somnolence, hallucinations and impulse control disorder. Less common is leg edema. We report on a 68-year-old male receiving levodopa and pramipexole consulting for severe leg edema lasting two years, whose etiology was not ascertained with multiple lab tests. This edema subsided substantially when pramipexole was discontinued and the dose of levodopa was increased to treat motor symptoms.

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: Restless legs syndrome (RLS) affects 10% of the general population. Aim: To analyze a series of patients with a minimum follow-up period of four years, treated during an interval of 14 years. Material and Methods: Retrospective analysis of medical records of 200 patients assessed and followed by the authors at a private outpatient clinic. Results: Fifty patients aged 25 to 90 years (34 females), who had a mean follow-up of 6,3 years (range 4-14 years), were selected. Sixty percent responded to therapy that initially consisted in dopamine agonists in 78% of cases. Thirty four percent remained symptomatic and 4% worsened. RLS severity scale improved from an initial score of 19,2 to 12,5 at the last follow-up visit (p < 0.05). Thirty-three patients (66%) experienced an overall worsening of symptoms beyond pretreatment levels during follow-up. The strategies to overcome this augmentation were the change to another agonist, use of ligands such as pregabalin and gabapentin, opioids and iron. Low ferritin was common in most of the patients in whom it was measured (24 of 45 results), mainly in those with augmentation (p < 0,05). Six percent of patients treated with dopamine agonist developed an impulse control disorder. Conclusions: RLS is a treatable condition during a long period of follow-up in most patients. We found a high rate of potentiation at presentation which can be explained by the inadequate use of high doses of dopaminergic agents.

Among autoimmune encephalitides, a prevalent group are those associated with antibodies against the N-Methyl-D-aspartate receptor, which present with behavior abnormalities, psychosis, seizures and abnormal movements. A new variant, mediated by antibodies against the GABA-A receptor, was recen­tly described. We report a 66-years-old female with this form of encephalitis whose main manifestation was the presence of severe seizures leading to status epilepticus. The patient had a good response to immunomodulatory therapy with intravenous methylprednisolone, azathioprine and anticonvulsants. The laboratory tests initially detected anti-thyroid peroxidase antibodies which lead to the misdiagnosis of Hashimoto Encephalitis, which was ruled out after the detection of antibodies against GABA-A receptor. No malignancy was detected.

Among autoimmune encephalitides, a prevalent group are those associated with antibodies against the N-Methyl-D-aspartate receptor, which present with behavior abnormalities, psychosis, seizures and abnormal movements. A new variant, mediated by antibodies against the GABA-A receptor, was recently described. We report a 66-years-old female with this form of encephalitis whose main manifestation was the presence of severe seizures leading to status epilepticus. The patient had a good response to immunomodulatory therapy with intravenous methylprednisolone, azathioprine and anticonvulsants. The laboratory tests initially detected anti-thyroid peroxidase antibodies which lead to the misdiagnosis of Hashimoto Encephalitis, which was ruled out after the detection of antibodies against GABA-A receptor. No malignancy was detected.

Sr. Editor: La enfermedad de Parkinson (EP) constituye una de las enfermedades mas prevalentes en neurologia y es la segunda enfermedad neurodegenerativa en frecuencia despues de la enfermedad de Alzheimer (1). En el ano 2006 presentamos la ecografia transcraneal como examen de apoyo diagnostico de esta entidad (1). Es un metodo de imagenes con buena sensibilidad, pero no tan alta como otros estudios que miden la transmision dopaminergica con ligando al transportador de dopamina, los cuales son de alto costo y de poca disponibilidad (2) . Similar problema se observa con la ecografia transcraneal, que no esta ampliamente disponible y sus resultados son altamente dependientes de la experiencia del operador, lo cual limita la comparabilidad de la tecnica (2). La resonancia magnetica (RM) se encuentra ampliamente disponible en nuestro pais y su rol reside en la deteccion de causas secundarias de parkinsonismo: lesiones vasculares, infecciosas, tumorales, etc. Hasta ahora los equipos disponibles eran de campo magnetico bajo y medio (0,5 hasta 1 Tesla) y no permitian evaluar la integridad de la sustancia nigra del mesencefalo, foco esencial del dano en la EP. Los nuevos equipos de alto campo magnetico (3 Tesla) y de muy alto campo (7 Tesla), permiten una excelente visualizacion de la sustancia nigra (3-5). Leer mas....

Edvard Munch is one the most transcendental artists of all times. His work is innovative in terms of reflecting the grief, sadness, loneliness and the impact of death in human beings as no one did it before. Behind his work it is possible to find many clues given by Munch himself of the reason of his creativity: a childhood surrounded by death and sorrow, and the development of an affective disorder that led him to alcoholism and many hospitalizations due to psychotic episodes. In this review, we analyze Munch's life and his disease that undoubtedly contributed to his great artistic legacy.

72 1024x768 Sr. Editor: Es indudable que la Internet ha significado un gran avance en muchas areas del conocimiento, incluyendo la Medicina (1,2). Si bien en la relacion medico- paciente nada reemplaza la comunicacion directa con el enfermo, usar medios que complementen la consulta, ambulatoria u hospitalizada, ayuda a darle continuidad a la atencion profesional, permitiendo mejorar la adherencia terapeutica y la satisfaccion del paciente. Sabemos tambien de los inconvenientes que puede ocasionar el que los enfermos busquen informacion sobre sus padecimientos en Internet, consiguiendo a menudo alarmarse mas con detalles o comentarios incorrectos o ajenos a su contexto personal, que finalmente solo perjudican su predisposicion al tratamiento. Tradicionalmente, la comunicacion directa en el box de la consulta medica y tambien por contacto telefonico, ha sido la forma principal de interaccion entre el paciente y los profesionales que lo atienden. Sin embargo con los avances en la tecnologia, el correo electronico ha ido adquiriendo gran relevancia como medio de comunicacion (3-5). A pesar de las ventajas de su rapidez y simplicidad, los medicos han sido reacios a emplearlo para mejorar la comunicacion con los enfermos. Tambien representa un beneficio para otros profesionales de la salud. Esta nueva forma de comunicacion, que ha ido configurandose progresivamente como otro instrumento al servicio de la Medicina, es motivo de creciente interes y analisis. Entre los beneficios del correo electronico para la relacion-medico paciente, podemos resaltar: A. Permite fortalecer la relacion medico-paciente, sin perder su privacidad. B. Puede favorecer el seguimiento y adecuado uso de la terapia. C. Puede prestigiar la actividad medica y mejorar la imagen deteriorada del profesional ya que uno de los aspectos que mas valoran los pacientes es la accesibilidad de su medico (3-5) D. Pacientes que viven a gran distancia pueden comunicarse con su medico, lo que determina, entre otras cosas, menores gastos. E. Permite dejar un registro de que se ha respondido, a diferencia del contacto por telefono. Este registro puede quedar consignado en una ficha electronica o adjuntar a la corriente. F. Tiene un bajo costo y es rapida. Entre las desventajas -que creemos no sobrepasan a las ventajas- se mencionan: - Puede inducir a equivoco o prestarse para abusos: los pacientes pueden asumir que se reemplaza una visita al medico, o utilizarlo en demasia, hacer consultas irrelevantes, lo que implica un consumo de tiempo importante. - Puede provocar molestia si el profesional no responde con la rapidez que los pacientes esperaban (6). No se debe contestar precipitada o irreflexivamente dado el valor legal del correo electronico, lo que eventualmente podria ser usado en contra del medico (1.2). - Se debe asegurar la privacidad de la informacion; el rompimiento de ella conlleva riesgos tanto para el paciente como para el medico. Las revisiones de Medicina Basada en Evidencias de la Fundacion Cochrane hasta ahora no permiten hacer una recomendacion en cuanto al real beneficio de esta forma de comunicacion. Existen muy pocos estudios y los que hay apuntan mas al contacto entre profesionales de la salud (2). No seria posible considerarlo superior a la comunicacion por telefono, pero tendria mayor cobertura y posibilidad de registrar lo comunicado. Un analisis de los estudios publicados en cuanto al uso del correo electronico entre pacientes y medicos senala que entre 5 y 70% de los medicos lo usan rutinariamente (6), y que existe satisfaccion de los medicos ya que lo consideran una real ayuda para el manejo de pacientes, especialmente con patologias cronicas. Las aprensiones surgen en cuanto a la seguridad para mantener la privacidad de la informacion y las implicancias legales que podrian surgir. Se han hecho algunas recomendaciones para el empleo del correo electronico que recogimos de la American Medical Association (1) y de nuestra experiencia institucional. A) No se recomienda emplear el correo para confirmar o establecer un diagnostico. En este sentido, la visita al medico es insustituible. B) La interaccion cara a cara con el paciente es basica y el correo solo debe usarse como herramienta complementaria. C) Se debe llegar a un acuerdo tacito con el paciente en cuanto al consentimiento del uso de esta herramienta y el compromiso del medico de apoyar al paciente con esta medida, la que sera utilizada solo con este fin, obligandose ambos a resguardar la privacidad de la informacion. El medico puede dejar en la ficha una nota sobre este acuerdo. D) Los pacientes no tienen por que entender necesariamente que sintomas son de menos importancia de comunicar y cuales si deben comunicarse en forma inmediata, esta confianza excesiva del medico puede llevar a serias consecuencias. E) Hacer enfasis en la seguridad de la informacion compartida, lo que implica el uso de correos con claves y acceso controlado. Si el medico pertenece a un centro especifico, este debera habilitar la debida seguridad en este tipo de comunicacion. F) El medico debe disponer de un aviso de recibo de correo, ya sea con un sistema automatico de respuesta comunicando su ausencia y datos alternativos de contacto. El cambio de correo electronico debe comunicarse a los pacientes. Es recomendable que el medico explicite al final del texto de su correo su afiliacion y datos de contacto principales. G) Se sugiere que el paciente y el medico no escriban mas de 140 caracteres para ser mas fluida la comunicacion. En vez de utilizar mas de esa cantidad, conviene acudir a la consulta o llamar por telefono. H) El paciente deberia entender que el medico leera el mensaje quizas solo una vez al dia y podra responder probablemente en una sola oportunidad o en la medida de su tiempo, de lo contrario se transforma en un ir y venir de correos. Nos parece que no solo debemos procurar que esta herramienta de comunicacion sea segura y eficiente, sino tambien evaluar algunos aspectos que aun estan pendientes de dilucidar: ?Puede ayudarnos a entregarle a nuestros pacientes una mejor atencion profesional?, ?Puede proporcionarles una mejor calidad de vida?, ?Que repercusiones tiene en la vida del medico y su quehacer profesional?, ?Que nuevas implicancias legales impone a la relacion medico paciente?, ?Como medir esto objetivamente? En suma, el uso del correo electronico en la practica clinica actual es un buen ejemplo de como la naturaleza rapidamente cambiante de la tecnologia repercute en el que es aun el principal instrumento de la medicina: la relacion medico-paciente. Junto con representar una oportunidad para complementar y mejorar dicha relacion, el empleo del correo electronico en la atencion de salud abre interrogantes que resulta indispensable abordar. 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Sr. Editor: La ataxia cerebelosa es un trastorno de la marcha caracterizado por inestabilidad: la marcha se vuelve insegura, hay aumento de la base de sustentacion y generalmente se acompana de otros signos de disfuncion cerebelosa, como disartria. La mayoria de los casos son esporadicos; sin embargo, cada vez se reconocen mas formas heredadas, especialmente de tipo autosomico dominante, con una prevalencia de 1 a 3 por 100.000 habitantes (1) . Estas son un grupo heterogeneo clinica y geneticamente de enfermedades neurodegenerativas progresivas que se expresan basicamente por ataxia de la marcha, torpeza motora y disartria. De las ataxias heredadas en forma dominante ( mas de 30 tipos ya descritos) la mas frecuente a nivel mundial es la enfermedad de Machado-Joseph ( el gen fundador es de origen portugues) llamada tambien ataxia espinocerebelosa tipo 3 (1-4). Fue descrita en 1972 en Estados Unidos en 3 familias de apellidos Machado, Joseph y Thomas, emigrantes de origen en las islas Azores, Portugal (5,6). Leer mas...

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.

Sr Editor: No es tan inusual encontrar en la Historia medicos que han compartido su vida profesional con el desarrollo de diversas expresiones artisticas. Algunos de ellos, terminan dedicandose mas a una determinada pasion artistica que a la Medicina, especialmente cuando el exito es tal que les permite vivir de su talento. Pero quizas, la mayoria decide asumir las inclinaciones artisticas como un hobby y no una opcion de vida. La palabra Medicina tiene su origen en una palabra que significa curar, preocuparse por el otro, el “Arte” de preocuparse por el otro 1. El Arte de alguna manera tambien se preocupa por el otro, al entregar creaciones que ennoblecen al individuo y lo ayudan a mejorar en el sentido mas profundo 1. El Arte tiene un rol terapeutico que es cada vez mas reconocido, especialmente la musica 2. Que un medico se interese en el Arte podria explicarse por diversos motivos, entre otros: estudiar y practicar la Medicina implica un conocimiento mas global del ser humano en todo nivel, y este conocimiento puede plasmarse en una obra artistica, ya sea literaria, pictorica o musical mas acabada. Tambien hay medicos con inquietudes artisticas desde la infancia o adolescencia y que optan por diversas presiones a una carrera con aparente mayor solvencia economica, quedando latente el potencial artistico del medico que puede develarse en periodos posteriores de mayor estabilidad. Por otro lado, Sheather plantea que tener una afinidad artistica favoreceria el ejercicio mas humano de la profesion por parte del medico y nos haria eventualmente mejores medicos 1 , posicion que comparto plenamente. Navarro propone, entre otras hipotesis, que los medicos desarrollan su lado artistico como sublimacion de las limitaciones que encuentran en la Medicina, o como una forma de evasion 3. David Hilfiker, medico de familia norteamericano, lo expresa claramente en esta frase: “La Medicina es mi raiz, la literatura son mis alas” 4.

Human herpesvirus 7 (HHV-7) may cause encephalomyelitis in immune competent adults. We report two patients infected by the virus. A 34-year-old male presenting with paraparesis and a sensitive deficiency located in D6 dermatome. Cerebrospinal fluid had 35 white blood cells per mm³ and 75 mg protein per dl. A PCR-microarray examination was positive for HHV-7. The patient was treated with prednisolone and ganciclovir with full recovery. A 27-year-old male presenting with headache, fever and diarrhea. Cerebrospinal fluid analysis showed 160 cells per mm³ and 75 mg protein per dl. Viral RNA detection was positive for HHV-7. The patient was managed with analgesia and rest and was discharged with the diagnosis of viral meningitis. Our communication supports the notion that HHV-7 may be considered as pathogen factor in humans, even in immune competent ones.

William Wilkie Collins (WWC) is a well-known prolifi c and innovator English writer of the Victorian age. After 150 years he is still being extensively read and all his main works are translated into Spanish. Furthermore, WWC has been acclaimed by famous writers such as JL Borges and TS Eliot as one of the best story-tellers of all times, and a master of the complexities of the plot of stories. WWC mentioned on his works many innovator aspects of medicine, demonstrating an uncanny power of observation and real interest in science. Notoriously, WWC described posttraumatic epilepsy, the clinical effects of opium, the introduction of people with sensorial defi cits, such as blindness and deafness, as main fi gures in his novels. WWC also showed an interest in the management of mental disorders and the use of music as a potential therapy. In this review, we comment these interesting aspects of the creative work of this genius of the fi ction literature. (Rev Med Chile 2011; 139: 1365-1369).

William Wilkie Collins (WWC) is a well-known prolific and innovator English writer of the Victorian age. After 150 years he is still being extensively read and all his main works are translated into Spanish. Furthermore, WWC has been acclaimed by famous writers such as JL Borges and TS Eliot as one of the best story-tellers of all times, and a master of the complexities of the plot of stories. WWC mentioned on his works many innovator aspects of medicine, demonstrating an uncanny power of observation and real interest in science. Notoriously, WWC described posttraumatic epilepsy, the clinical effects of opium, the introduction of people with sensorial deficits, such as blindness and deafness, as main figures in his novels. WWC also showed an interest in the management of mental disorders and the use of music as a potential therapy. In this review, we comment these interesting aspects of the creative work of this genius of the fiction literature.

Jonathan Swift is one of the most celebrated satirist writers in literature. His well-known "Gulliver's Travels", apartfrom being a serious human being criticism, contains many interesting ana unrecognized comments about medical and other scientific facts. Swift made what seems to be thefirst account of a dementing illness in the elderly; his description fits well with what we now know as Alzheimer's disease. He also described a condition now called synaesthesia, a very interestingphenomenon that may contribute to creativity. In thispaper, we review aspects ofhis Ufe and reveal these amazing descriptions as samples of Swift's extraordinary power of observation.

Robert Walser (1878-1956) is an important but unknown European writer of the twentieth century. He was also a mysterious and solitary man who lived at the margins of society. After the questionable diagnosis of schizophrenia, he nearly stopped writing and spent almost three decades in two Swiss psychiatric hospitals. The originality of his work, undoubtedly conditioned by his mental disorder, renders interesting a review of his life and a discussion of the possible differential diagnosis of his disease.

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.

Johannes Vermeer and Anthon van Leeuwenhoek are among the greatest geniuses in Art and Science respectively. During the seventeenth century, they achieved innovative advances. Vermeer, in painting, created a new intímate view of people specially women, developing the treatment of light and details. Leeuwenhoek, friend of Vermeer, influenced him in the use of the obscure camera in his works. In spite of having no formal academic education, he made extremely relevant discoveries with the use of microscope. He showed for first time human spermatozoids, red blood cells, brain, nerve and muscle structures and described many living animals. These two brilliant contemporary Dutch men made a great contribution to our civilization.

Background: Restless legs syndrome (RLS) is a neurological condition that is characterized by the irresistible urge to move the legs and is very common. In the last decade, much attention has been focused on RLS, given its high occurrence, underdiagnosis, and impact on quality of Ufe. Aim: To determine the frequency of RLS in a neurologic-psychiatric outpatient clinic. Patients and Methods: We interviewed patients attending a prívate neurological outpatient clinic, using a standardized validated questionnaire, and an additional phone interview to confirm diagnosis. Results: Of approximately 800 people attending the clinic, the questionnaire was answered by 238 subjects (168 females). Fifteen percent of respondents were affected by RLS and none had been diagnosed before. Most patients had a severe form that probably required treatment. Conclusions: A low awareness of RLS exists in Chile, even among specialized physicians.

Niccolo Paganini is the most virtuos violinist of the history of music. He even received the nick name of "the violinist of the evil" for his outstanding skills on stage performance. It has been suggested that he had syphilis and tuberculosis, the commonest diseases of that time, but this hypothesis remains speculative. There are suggestions that he was the victim of iatrogenic mercurial poisoning. Furthermore, his body build suggests the presence of Ehlers-Danlos syndrome which could give him special anatomical conditions allowing him to achieve an amazing level of vírtuousness in his art. We herein review the medical aspects ofthis brilliant musician's life

Edgar Allan Poe, one of the best American storytellers and poets, suffered an episodic behaviour disorder partially triggered by alcohol and opiate use. Much confusion still exists about the last days of his turbulent life and the cause of his death at an early age. Different etiologies have been proposed to explain his main medical problem, however, complex partial seizures triggered by alcohol, poorly recognized at the time when Poe lived, seems to be one of the most acceptable hypothesis, among others discussed

Background: Tourette syndrome is a neuropsychiatric disorder characterized by motor and vocal tics, attentional deficit, poor control of impulses and obsessive compulsive disorder. Pharmacological treatment is often disappointing due to partial response and frequent poor tolerance to neuroleptic drugs which are otherwise the most effective therapy so far. Aim: To report a lasting improvement obtained with a new drug, aripiprazole that acts modulating both dopaminergic and serotoninergic neurotransmission. Material and methods: Ten patients refractory to their usual therapy, aged 10 to 35 years, were switched to aripiprazole in an open trial. Results: Nine of the 10 patients showed a significant response assessed by the Yale severity tics rating scale and the clinical global impression scale (p

Georg Friedrich Händel, a musical genius, was affected since his middle age by several attacks, during a period of 20 years, of upper right limb palsies, abnormal speech followed by amaurosis in his contralateral eye and then is both eyes. He underwent three unsuccessful operations due to a wrong diagnosis of cataracts. We discuss the possible differential diagnoses. Considering his clear vascular profile, the most plausible hypothesis is cerebrovascular disease with embolic infarcts from stenotic left internal carotid artery to the left middle cerebral and retinal arteries

Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been described as neuroacanthocytosis. This is a heterogeneous group of conditions that can be clearly subdivided on the basis of recent genetic findings. The McLeod Syndrome, one of the core neuroacanthocytosis syndromes, is a rare X-linked disorder caused by mutations of the XK gene, an X-chromosomal gene of unknown function characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. We report two Chilean brothers with the McLeod phenotype who showed important psychiatric features. The diagnosis may be elusive if the presence of acanthocytosis is not properly studied. We describe a method which allowed the diagnosis that unmasked acanthocytosis. Otherwise the condition could have remained undiagnosed as it had been for decades in this family. This syndrome must be considered when assessing a familial movement disorder, specially affecting males with relevant psychiatric features. A reliable test for acanthocytosis assessment is available