[Atypical Guillain-Barre syndrome clustering: is it necessary to reconsider the diagnostic criteria and microbiological protocol?] / Agrupacion de casos de sindrome de Guillain-Barre atipico: es necesario redefinir los criterios diagnosticos y los protocolos microbiologicos?

INTRODUCTION: Guillain-Barre syndrome is classically defined as a symmetrical ascending acute polyradiculoneuropathy, although there are atypical variants that make diagnosis difficult. CASE REPORTS: The medical data of six patients in our hospital area are collected during the first quarter of 2013. Lumbar punctures, imaging, neurophysiological studies, ganglioside antibodies and serologies have been proposed in all cases. We focus on the atypical features as late hyporeflexia, increased frequency of asymmetry and distal paresis and initial fever. From a neurophysiological point of view, all patients presented sensorimotor axonal forms. The most consistent datas in early studies is the F wave's alteration. A Miller Fisher variant associated with faciocervicobraquial paresis and cerebral reversible vasoconstriction syndrome has been detected. A bilateral brachial paresis and lumbar polyradiculopathy in the context of influenza A infection is other interesting case. The saltatory variant with cranial nerve involvement and lower limbs paresis has been demonstrated in one patient. Bands in cerebrospinal fluid are positive in three cases and anti-ganglioside antibodies in one patient. The syndrome of inappropriate secretion of antidiuretic hormone may explain some of the hyponatremias registered. The first line of treatment are inmunoglobulins in all patients. Plasmapheresis exchanges has been used as an additional therapy in four cases. CONCLUSIONS: These clusters of six axonal cases with atypical clinical features justifies the need for knowledge of these variants in order to achieve an early treatment. Late hyporeflexia and brachialfaciocervico, saltatory and lumbar forms should be considered in the spectrum of Guillain-Barre syndrome. The etiological study should rule out a lots of pathogens as influenza A.

TITLE: Agrupacion de casos de sindrome de Guillain-Barre atipico: es necesario redefinir los criterios diagnosticos y los protocolos microbiologicos?Introduccion. El sindrome de Guillain-Barre se define clasicamente como una polirradiculopatia aguda simetrica ascendente, si bien existen variantes atipicas que dificultan el diagnostico. Casos clinicos. Se recogen las historias clinicas de seis pacientes de nuestra area hospitalaria durante el primer trimestre de 2013. Se han realizado punciones lumbares, electroneurograma-electromiograma y analiticas con autoinmunidad en todos los casos. El conjunto de la muestra destaca por la presencia de caracteristicas atipicas, como hiporreflexia tardia, mayor frecuencia de asimetria y afectacion distal, asi como fiebre inicial. Desde el punto de vista neurofisiologico, todos los pacientes presentan formas axonales de tipo sensitivomotoras y las alteraciones de la onda F son el dato mas precoz. Se identifica una variante de sindrome de Miller Fisher asociada a paresia faciocervicobraquial y sindrome de vasoconstriccion cerebral reversible. Otro caso auna las variantes de paresia braquial bilateral y polirradiculopatia lumbar en el contexto de infeccion aguda por influenza A. La variante saltatoria ha sido demostrada en otro paciente. Todos los pacientes han recibido tratamiento con inmunoglobulinas, y en dos de ellos se sumo la plasmaferesis como terapia adicional. Conclusiones. La agrupacion de seis casos axonales con caracteristicas clinicas atipicas justifica la necesidad del conocimiento de estas variantes para lograr un diagnostico y un tratamiento precoz. La hiporreflexia tardia y las formas faciocervicobraquiales, saltatorias y lumbares deben considerarse dentro del espectro del sindrome de Guillain-Barre. El estudio etiologico debe incluir el cribado de numerosos patogenos, entre los que debe incluirse el virus influenza A.

Ictus isquémico talámico: una etiología infrecuente del síndrome de sobresalto / Thalamic ischaemic stroke: an uncommon aetiology of “startle syndrome”

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Déficit neurológico transitorio y hematoma subdural crónico / Transient neurological deficit and chronic subdural haematoma

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[Frontal cortical infarction and contralateral postural and international tremor]. / Infarto cortical frontal y temblor postural e intencional contralateral.

INTRODUCTION: Movement disorders, when caused by ischemic stroke, may appear as initial manifestation or after a variable interval of time. Among postictal movement disorders tremor is an uncommon manifestation. Holmes' tremor, which is a mixed tremor, is the most frequent type of tremor after stroke. It is associated to infarcts of various localizations like mesencephalon, pons, cerebellum, and thalamus. Cortical infarct is exceptional as a cause of tremor. CASE REPORT: A sixty-three-year-old woman, with hypertension, who, 2 weeks after a cortical infarct located in the precentral circunvolution of the left frontal lobe, presented with a postural and intention tremor of low frequency (4 Hz) and high amplitude at the right arm. Tremor is still present 2 years after stroke and it has improved partially after treatment with clonazepam. DISCUSSION: Frontal cortical infarcts may cause a contralateral postural and intentional tremor. It usually appears after a time interval. Tremor physiopathology may be related, in these cases, to interruption of the inhibitory fronto-subcortical motor circuit.

Infarto cortical frontal y temblor postural e intencional contralateral / Frontal cortical infarction and contralateral postural and international tremor

Introducción. El ictus isquémico es una causa infrecuente de trastornos del movimiento que pueden formar parte de la clínica inicial o presentarse de forma diferida. Entre los movimientos involuntarios postictales el temblor es excepcional. El temblor más frecuente tras un ictus es un temblor mixto, de reposo, postural e intencional, denominado temblor de Holmes, que puede presentarse con infartos de topografía muy diversa (mesencéfalo, protuberancia, cerebelo y tálamo). La aparición de temblor tras infartos corticales es excepcional. Caso clínico. Mujer de 63 años, hipertensa, que 2 semanas después de un infarto cortical en la circunvolución precentral del lóbulo frontal izquierdo comenzó con un temblor postural e intencional, de gran amplitud y baja frecuencia (4 Hz) en el miembro superior derecho. El temblor persistía 2 años después del ictus y mejoró discretamente con clonazepam. Discusión. Los infartos corticales frontales son una causa infrecuente de temblor postural e intencional contralateral que suele presentarse de forma diferida. En estos casos la fisiopatología del temblor podría estar relacionada con la interrupción del circuito motor inhibidor frontosubcortical

Introduction. Movement disorders, when caused by ischemic stroke, may appear as initial manifestation or after a variable interval of time. Among postictal movement disorders tremor is an uncommon manifestation. Holmes’ tremor, which is a mixed tremor, is the most frequent type of tremor after stroke. It is associated to infarcts of various localizations like mesencephalon, pons, cerebellum, and thalamus. Cortical infarct is exceptional as a cause of tremor. Case report. A sixty-three-year-old woman, with hypertension, who, 2 weeks after a cortical infarct located in the precentral circunvolution of the left frontal lobe, presented with a postural and intention tremor of low frequency (4 Hz) and high amplitude at the right arm. Tremor is still present 2 years after stroke and it has improved partially after treatment with clonazepam. Discussion. Frontal cortical infarcts may cause a contralateral postural and intentional tremor. It usually appears after a time interval. Tremor physiopathology may be related, in these cases, to interruption of the inhibitory fronto-subcortical motor circuit

[A descriptive analysis of the demand for ambulatory neurological care in the health district of Huelva]. / Análisis descriptivo de la demanda de asistencia neurológica ambulatoria en un área sanitaria de Huelva.

INTRODUCTION: In recent years the demand for ambulatory neurological care has risen. Studying this situation can help to improve health care planning and the quality of the referrals from primary care. AIM: To analyse a number of variables involved in the first visits referred from primary care to neurology services. PATIENTS AND METHODS: We conducted a prospective, descriptive study in which data was consecutively collected about 500 new patients from primary care who had appointments for a visit to general neurology services in the health district of the province of Huelva. Demographic features, the reason for referral, initial diagnoses and the case resolution index were analysed. RESULTS: Mean age was 51 years old, and patients were predominantly female (63.4%). The most frequent diagnoses were headaches (42.8%) and cognitive impairment (12%). In 8.2% of cases the referred patients had no neurological pathology. Data showed that 40.2% were discharged after the first visit. CONCLUSIONS: The demographic characteristics and reasons for the visit were similar to those previously published on other regions in Spain. The high percentage of direct discharges translates into a poor selection of the patients referred from primary care. Improving the quality of referrals would make it possible to enhance the efficiency of ambulatory neurological care.

Análisis descriptivo de la demanda de asistencia neurológica ambulatoria en un área sanitaria de Huelva / A descriptive analysis of the demand for ambulatory neurological care in the health district of Huelva

Introducción. En los últimos años se ha incrementado la demanda de asistencia neurológica ambulatoria. Su estudio puede contribuir a mejorar la planificación sanitaria y la calidad de las derivaciones desde atención primaria. Objetivo. Analizar diversas variables de las primeras visitas remitidas desde atención primaria a las consultas de neurología. Pacientes y métodos. Estudio prospectivo descriptivo en el que se recogieron de forma consecutiva los datos de 500 pacientes nuevos procedentes de atención primaria citados en una consulta de neurología general en el área sanitaria de la provincia de Huelva. Se analizaron las características demográficas, el motivo de derivación, los diagnósticos iniciales y el índice de resolución de los casos. Resultados. La media de edad fue de 51 años, con un predominio femenino (63,4%). Los diagnósticos más frecuentes fueron las cefaleas (42,8%) y el deterioro cognitivo (12%). El 8,2% de los pacientes remitidos no tenía ninguna patología neurológica. El 40,2% fue dado de alta tras la primera visita. Conclusiones. Las características demográficas y los motivos de consulta son similares a los publicados previamente en otras comunidades españolas. El elevado porcentaje de altas directas traduce una escasa selección de los pacientes remitidos desde atención primaria. La mejora en la calidad de las derivaciones permitiría mejorar la eficiencia de la asistencia neurológica ambulatoria

Introduction. In recent years the demand for ambulatory neurological care has risen. Studying this situation can help to improve health care planning and the quality of the referrals from primary care. Aim.To analyse a number of variables involved in the first visits referred from primary care to neurology services. Patients and methods. We conducted a prospective, descriptive study in which data was consecutively collected about 500 new patients from primary care who had appointments for a visit to general neurology services in the health district of the province of Huelva. Demographic features, the reason for referral, initial diagnoses and the case resolution index were analysed. Results. Mean age was 51 years old, and patients were predominantly female (63.4%). The most frequent diagnoses were headaches (42.8%) and cognitive impairment (12%). In 8.2% of cases the referred patients had no neurological pathology. Data showed that 40.2% were discharged after the first visit. Conclusions. The demographic characteristics and reasons for the visit were similar to those previously published on other regions in Spain. The high percentage of direct discharges translates into a poor selection of the patients referred from primary care. Improving the quality of referrals would make it possible to enhance the efficiency of ambulatory neurological care

[Room tilt illusion: a rare symptom of migraine aura]. / Ilusión de inversión de la imagen visual: una manifestación excepcional de aura migrañosa.

INTRODUCTION: Room tilt illusion is a distorted perception of the spatial distribution of objects due to complex rotations in different planes. This distortion usually occurs in the vertical plane and is usually associated to vertebrobasilar ischemia. The etiology of the phenomenon varies greatly and only rarely corresponds to migraine aura. CASE REPORT: Since youth, a sixty-year-old woman had frequent episodes of room tilt illusion in the horizontal plane. These lasted from 30 minutes to 2 hours and were always followed by frontal headache fulfilling criteria for migraine (computerized tomography and magnetic resonance imaging) were normal. Visual symptoms and headache disappeared following treatment with flunarizine. DISCUSSION: Room tilt illusion might be a rare symptom of migraine aura. In this setting a functional depression of neurons from the posterior parietal cortex may occur, possibly mediated by chemical factors.

Ilusión de inversión de la imagen visual: una manifestación excepcional de aura migrañosa / Room tilt illusion: a rare symptom of migraine aura

Introducción. La ilusión de inversión de la imagen visual consiste en una percepción alterada de la situación de los objetos que se produce por rotaciones completas en los distintos planos del espacio. Esta alteración es más frecuente en el plano vertical y se asocia sobre todo a isquemia vertebrobasilar. La etiología del fenómeno es muy diversa y sólo excepcionalmente corresponde a un aura migrañosa. Caso clínico. Mujer de 60 años que desde su juventud presenta episodios de inversión visual en el plano horizontal, de 30 min a 2 h de duración, que siempre se siguen de una cefalea bifrontal con criterios de migraña. Los estudios de neuroimagen (tomografía computarizada y resonancia magnética craneal) fueron normales. Tanto los síntomas visuales como la cefalea desaparecieron al instaurar tratamiento con flunarizina. Discusión. La ilusión de inversión de la imagen visual puede ser una manifestación infrecuente de aura migrañosa. El mecanismo fisiopatológico consiste en una depresión funcional neuronal transitoria de la corteza parietal posterior, posiblemente mediada por factores químicos

Introduction. Room tilt illusion is a distorted perception of the spatial distribution of objects due to complex rotations in different planes. This distortion usually occurs in the vertical plane and is usually associated to vertebrobasilar ischemia. The etiology of the phenomenon varies greatly and only rarely corresponds to migraine aura. Case report. Since youth, a sixty-year-old woman had frequent episodes of room tilt illusion in the horizontal plane. These lasted from 30 minutes to 2 hours and were always followed by frontal headache fulfilling criteria for migraine (computerized tomography and magnetic resonance imaging) were normal. Visual symptoms and headache disappeared following treatment with flunarizine. Discussion. Room tilt illusion might be a rare symptom of migraine aura. In this setting a functional depression of neurons from the posterior parietal cortex may occur, possibly mediated by chemical factors

[Cerebral calcifications: a clue for a diagnostic process in a nonspecific clinical case]. / Calcificaciones cerebrales típicas como orientación de cuadro clínico inespecífico.

Coeliac disease is a gluten sensitive enteropathy, autoimmune in origin, which has been traditionally regarded as a gastrointestinal disease. Years later it has been reported an extraintestinal affection. A huge number of neurological syndromes of unknown cause had been initially described in association with coeliac disease, with total or partial response to a gluten free-diet. A specific kind of occipital cerebral calcifications in relation to coeliac disease has been also described, and sometimes it means the existence of a syndrome called "Gobby's Syndrome". We show a patient with a mild unknown coeliac disease, a woman who had occipital cerebral calcifications in a TAC cerebral, which was made because of her intractable migraines and that it lead to the diagnosis. The migraine disappeared after a gluten free-diet, like similar cases reported by literature. The fact of existing neurological symptoms associated to coeliac diseases opens a therapeutic window of opportunity because they would respond to a gluten free-diet.

Calcificaciones cerebrales típicas como orientación de cuadro clínico inespecífico / Cerebral calcifications: a clue for a diagnostic process in a inespecific clinical case

La enfermedad celíaca es una enteropatía por sensibilidad al gluten de origen autoinmune, considerada clásicamente como enfermedad exclusivamente gastrointestinal. Posteriormente se han puesto de manifiesto manifestaciones extraintestinales. Un número importante de síndromes neurológicos catalogados de idiopáticos al inicio, han sido descritos en el contexto de enfermedad celiaca, presentando respuesta total o parcial tras dieta sin gluten. Se ha descrito asociado a enfermedad celiaca un tipo muy característico de calcificaciones cerebrales occipitales, que a veces forma parte de un síndrome específico llamado síndrome de Gobby. Presentamos una paciente con enfermedad celiaca oligosintomática, que presentaba las peculiares calcificaciones cerebrales que fueron halladas tras realización de una prueba de imagen al presentar migraña rebelde a tratamiento, y que orientaron hacia su diagnóstico. La migraña mejoró sustancialmente tras realizar dieta sin gluten, como en otros casos descritos en la literatura. El hecho de que existan manifestaciones neurológicas asociadas a enfermedad celiaca hace posible la reversibilidad de las mismas tras dieta exenta de gluten

Coeliac disease is a gluten sensitive enteropathy, autoimmune in origin, which has been traditionally regarded as a gastrointestinal disease. Years later it has been reported an extraintestinal affection. A huge number of neurological syndromes of unknown cause had been initially described in association with coeliac disease, with total or parcial response to a gluten free-diet. A specific kind of occipital cerebral calcifications in relation to coeliac disease has been also described, and sometimes it means the existence of a syndrom called “Gobby´s Syndrom”. We show a patient with a mild unknown coeliac disease, a woman who had occipital cerebral calcifications in a TAC cerebral, which was made because of her wild migraine and that it leaded the diagnosis. The migraine disappeared after a gluten free-diet, like similar cases reported by literature. The fact of existing neurological symtoms associated to coeliac diseases opens a therapeutc window of opportunity because they would repond to a gluten free-diet

[Cystinosis: an infrequent cause of distal myopathy]. / Cistinosis: una causa infrecuente de miopatía distal.

INTRODUCTION: Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. CASE REPORT: Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. CONCLUSIONS: Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication.

Cistinosis: una causa infrecuente de miopatía distal / Cystinosis: an infrequent cause of distal myopathy

Introducción. La cistinosis es una enfermedad hereditaria cuyas manifestaciones clínicas se producen por la acumulación de cristales de cistina en diversos tejidos. Entre sus complicaciones tardías se ha descrito una miopatía distal vacuolar. Caso clínico. Se trata de un varón de 20 años, diagnosticado de cistinosis a los 2 años, con grave afectación renal que requirió trasplante. De forma insidiosa desarrolló debilidad y atrofia de los músculos de las manos. Mediante estudios neurofisiológicos e histológicos se estableció el diagnóstico de miopatía distal vacuolar, y se objetivaron depósitos de cristales de cistina en la microscopía electrónica. Conclusiones. La cistinosis debe incluirse en el diagnóstico diferencial de las miopatías distales. Un tratamiento precoz con cisteamina podría evitar el desarrollo de esta complicación

Introduction. Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. Case report. Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. Conclusions. Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication

[Reversible posterior leukoencephalopathy, severe hypertension, and cocaine abuse]. / Leucoencefalopatía posterior reversible, hipertensión severa y abuso de cocaína.

Reversible posterior leukoencephalopathy syndrome is a brain disorder characterized by headache, nausea, vomiting, visual disturbance, depressed level of consciousness, convulsions and occasionally focal neurologic deficits. It is commonly associated with malignant hypertension, toxemia of pregnancy or the use of immunosuppressive agents. Early diagnosis and specific treatment is essential. We report a case of reversible posterior leukoencephalopathy in the context of a hypertensive crisis in an habitual cocaine sniffer. Reversible posterior leukoencephalopathy must be suspected in every patient with hypertensive crisis and compatible clinic manifestation. Neuroimaging studies show characteristic features which confirm the diagnosis.

Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene.

Two Spanish sibs with familial amyloidotic polyneuropathy (FAP) homozygous for the V30M-TTR gene, were diagnosed by DNA and protein analyses. Their clinical picture was very similar to the Majorcan FAP heterozygous patients except for the sensorimotor syndrome which was more aggressive. Noteworthy were clinical differences between the sibs concerning autonomic involvement, cranial neuropathy and kidney disturbances. These differences can be due to genetic and/or environmental factors.