Manifestaciones neurológicas en la enfermedad de Erdheim-Chester: a propósito de 2 casos / Neurological manifestations in Erdheim-Chester disease: Two case reports

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Enfermedad de Hirayama: ¿operar o no operar? / Hirayama disease: Is surgery an option?

Introducción: La enfermedad de Hirayama es una rara mielopatía cervical mucho más frecuente en hombres jóvenes, que cursa con atrofia distal en los brazos como primer y principal síntoma. Es importante diferenciarla de las enfermedades de las motoneuronas porque su historia natural es distinta, con tendencia hacia la estabilización en menos de 5 años. El diagnóstico se basa en los hallazgos clínicos y en la RM dinámica (en flexión del cuello), que detecta la atrofia medular segmentaria, el despegamiento posterior de la dura madre y la congestión venosa en el espacio epidural. La tendencia es a indicar un tratamiento conservador pero no está establecido cuál puede ser el papel de la cirugía. Pacientes: Se presentan 4 casos que cumplen los criterios clínicos y de imagen en RM dinámica para diagnóstico de enfermedad de Hirayama. Dos están en fase de estabilización espontánea después de muchos años de evolución y en la RM se demuestra la desaparición de las alteraciones típicas. Otro caso también permanece estable con menos tiempo de observación. El cuarto caso corresponde a un joven que en poco más de un año presenta una mielopatía grave, por lo que ha sido operado, manteniéndose estable tras una observación todavía corta. Conclusiones: Nuestros 4 casos indican que la mayoría de los pacientes con enfermedad de Hirayama se estabilizan de manera natural y que la intervención quirúrgica debe ser una decisión individual, probablemente limitada a los casos más graves con una evolución muy breve

Introduction: Hirayama disease is a rare cervical myelopathy, predominantly affecting young males, which presents with distal atrophy of the upper limbs as its first and main symptom. It must be differentiated from motor neuron diseases because its natural history is different and because HD tends to stabilise in less than 5 years. Diagnosis is based on clinical findings and dynamic flexion MRI showing segmental spinal muscular atrophy, detachment of the posterior dura mater and venous congestion in the epidural space. The tendency is to indicate conservative treatment and no indications for surgery have been established. Patients: We present 4 cases meeting both clinical criteria and dynamic MRI imaging criteria for a diagnosis of Hirayama disease. Two have stabilised spontaneously over the course of many years, and MRI scans show that typical changes have disappeared. Another case also remains stable following a shorter observation time. The fourth case is a young man who developed severe myelopathy in just over a year, and therefore underwent surgery. While his follow-up time is still short, his condition remains stable. Conclusions: Our 4 cases suggest that the condition of most patients with Hirayama stabilises naturally; patients should be evaluated for surgery on an individual basis, and surgery should probably be limited to the most severe cases that have progressed quickly

Experiencia en el tratamiento con inmunoterapia en 3 pacientes con ataxia cerebelosa asociada a anticuerpos anticarboxilasa del ácido glutámico / Experience with immunotherapy in 3 patients with cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies

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Hirayama disease: Is surgery an option?

INTRODUCTION: Hirayama disease is a rare cervical myelopathy, predominantly affecting young males, which presents with distal atrophy of the upper limbs as its first and main symptom. It must be differentiated from motor neuron diseases because its natural history is different and because HD tends to stabilise in less than 5 years. Diagnosis is based on clinical findings and dynamic flexion MRI showing segmental spinal muscular atrophy, detachment of the posterior dura mater and venous congestion in the epidural space. The tendency is to indicate conservative treatment and no indications for surgery have been established. PATIENTS: We present 4 cases meeting both clinical criteria and dynamic MRI imaging criteria for a diagnosis of Hirayama disease. Two have stabilised spontaneously over the course of many years, and MRI scans show that typical changes have disappeared. Another case also remains stable following a shorter observation time. The fourth case is a young man who developed severe myelopathy in just over a year, and therefore underwent surgery. While his follow-up time is still short, his condition remains stable. CONCLUSIONS: Our 4 cases suggest that the condition of most patients with Hirayama stabilises naturally; patients should be evaluated for surgery on an individual basis, and surgery should probably be limited to the most severe cases that have progressed quickly.

Fluctuaciones motoras y discinesias en la enfermedad de Parkinson: variables que discriminan ambas complicaciones en una muestra de 285 pacientes / Motor fluctuations and dyskinesias in Parkinson' s disease: variables that discriminate both complications in a sample of 285 patients

Introducción. Una gran proporción de los pacientescon enfermedad de Parkinson van a presentar fluctuacionesy discinesias con el desarrollo de la enfermedad. El objetivodel presente trabajo es estudiar las variables que predicen laaparición de estas complicaciones.Pacientes y métodos. El estudio es de tipo transversal.Se estudiaron 285 pacientes con enfermedad de Parkinson. Seregistró la edad, fecha del diagnóstico y del tratamiento conlevodopa y situación motora (UPDRS III). Se recogían losfármacos que tomaban y sus posologías. Finalmente se calculabala dosis equivalente de levodopa en aquellos que tomabanagonistas o formulaciones retard.Resultados. La edad media de los pacientes era de 71,1años (±9,1). La duración de la enfermedad era de 8,7 años(± 11,8). En total 118 pacientes (41,4 %) presentaban fluctuacionesmotoras y 61 pacientes (21,4 %) tenían discinesias.Se realizaron dos modelos de análisis discriminante:en el primero la variable dependiente fue la presencia defluctuaciones; tres variables discriminaban de forma signitificativaentre ambos grupos: la dosis equivalente de levodopa,el tiempo en tratamiento con levodopa y la situaciónmotora. En el segundo modelo se utilizaba la presencia dediscinesias como variable dependiente. La única variableseleccionada por el modelo fue la dosis equivalente de levodopa.Discusión. El tiempo en tratamiento con levodopa, ladosis de agonistas y levodopa y la situación motora discriminana aquellos que tienen fluctuaciones de los que no laspresentan. En el caso de las discinesias sólo se seleccionó ladosis de agonistas y levodopa (AU)

Introduction. A large proportion of patients with Parkinson’sdisease suffer fluctuations and dyskinesias in thecourse of the disease. The present study explores the variablesthat predict the appearance of these complications.Patients and methods. This is a cross-sectionalstudy that studies 285 patients with Parkinson’s disease.Patient's age, date of diagnosis and of treatment with levodopaand motor situation (UPDRS III) were recorded.Drugs and doses were documented. Finally, levodopaequivalent dose in those patients using agonists or prolongedrelease formulations was calculated.Results. Mean age of the patients was 71.1 years(±9.1). Disease duration was 8.7 years (±11.8). A total of118 patients (41.4%) presented motor fluctuations, and61 patients (21.4 %) had dyskinesias. Two discriminantanalytical models were established. In the first model,the dependent variable was the presence of fluctuations,and three variables significantly discriminated betweenthe two groups: the levodopa equivalent dose, the durationof treatment with levodopa and the motor situation.In the second model the presence of dyskinesias constitutedthe dependent variable. The only variable selectedby this model was the levodopa equivalent dose.Discussion. The duration of treatment with levodopa,the doses of agonists and levodopa and the motor situationdifferentiate patients with fluctuations from thosewithout them. In the case of dyskinesias, only theagonists and levodopa doses were selected by the analyticalmodel (AU)

[Motor fluctuations and dyskinesias in Parkinson's disease: variables that discriminate both complications in a sample of 285 patients]. / Fluctuaciones motoras y discinesias en la enfermedad de Parkinson: variables que discriminan ambas complicaciones en una muestra de 285 pacientes.

INTRODUCTION: A large proportion of patients with Parkinson's disease suffer fluctuations and dyskinesias in the course of the disease. The present study explores the variables that predict the appearance of these complications. PATIENTS AND METHODS: This is a cross-sectional study that studies 285 patients with Parkinson's disease. Patient's age, date of diagnosis and of treatment with levodopa and motor situation (UPDRS III) were recorded. Drugs and doses were documented. Finally, levodopa equivalent dose in those patients using agonists or prolonged release formulations was calculated. RESULTS: Mean age of the patients was 71.1 years (+/-9.1). Disease duration was 8.7 years (+/-11.8). A total of 118 patients (41.4%) presented motor fluctuations, and 61 patients (21.4 %) had dyskinesias. Two discriminant analytical models were established. In the first model, the dependent variable was the presence of fluctuations, and three variables significantly discriminated between the two groups: the levodopa equivalent dose, the duration of treatment with levodopa and the motor situation. In the second model the presence of dyskinesias constituted the dependent variable. The only variable selected by this model was the levodopa equivalent dose. DISCUSSION: The duration of treatment with levodopa, the doses of agonists and levodopa and the motor situation differentiate patients with fluctuations from those without them. In the case of dyskinesias, only the agonists and levodopa doses were selected by the analytical model.

Influence of motor symptoms upon the quality of life of patients with Parkinson's disease.

We studied the impact of various motor and nonmotor symptoms upon quality of life in patients with Parkinson's disease (PD). The study comprised 110 patients with PD (age: 68.6 years, course of the disease: 7.6 years). The Unified Parkinson Disease Rating Scale (UPDRS; I-IV) and Parkinson's Disease Questionnaire (PDQ-39) were recorded. We recorded the correlations between years of disease and UPDRS IV, as well as PDQ-39 and UPDRS I, II, III and IV. Introduction of all variables into a linear regression model showed that 3 variables accounted for 51% of the variance in PDQ-39. Mental condition, gait disorders and complications of dopaminergic drugs are the variables that most affect the quality of life of patients with PD.

[Utility of the study of the vegetative nervous system in the differential diagnosis between Parkinson's disease and multiple system atrophy]. / Utilidad del estudio del sistema nervioso vegetativo en el diagnóstico diferencial entre la enfermedad de Parkinson y la atrofia multisistémica.

INTRODUCTION: The aim of this study is to show if the exploration of the autonomic nervous system is useful to improve the specificity of clinical criteria of Parkinson's Disease (PD) and Multiple System Atrophy (MSA). PATIENTS AND METHODS: 20 patients with PD and 13 patients with MSA were studied. After 12 hours in off medication, NE and GH were measured in supine position and NE after 5 minutes standing. Later, GH levels were recorded at 15, 30, 45 and 60 minutes after a dose of 0.005 mg/kg of apomorphine. Finally, analysis of the symptoms of autonomic dysfunction and levodopa test were carried out. RESULTS: Sympathetic response to postural changes was significantly higher in patients with PD (NE increase in relation to basal: PD: 170.90 +/- 110.08 pg/ml; MSA: 91.33 +/- 73.79 pg/ml; p = 0.029). No differences were found in the response of GH to apomorphine (GH peak at 45 minutes: PD: 2.37 +/- 2.7 ng/ml; MSA: 1.69 +/- 1.90 ng/ml; ns). The symptoms of autonomic dysfunction were more frequently in patients with MSA. The stridor was specific to MSA. Improvement in motor scores in the levodopa test was higher in patients with PD (PD: 39.7 %; MSA: 17.89; p = 0.019). DISCUSSION: Sympathetic response to postural changes, description of symptoms of autonomic dysfunction, and motor response to levodopa test are useful tools in order to improve specificity of the diagnostic criteria of PD and MSA. The GH test with apomorphine was not useful for a differential diagnosis.

Utilidad del estudio del sistema nervioso vegetativo en el diágnóstico diferencial entre la enfermedad de Parkinson y la atrofia multisistémica / Utility of the study of the vegetative nervous system inthe differential diagnosis between Parkinson´s disease and multiple system atrophy

Introduction. El objetivo de este estudio es valorar si mediante la exploración del sistema nervioso vegetativo se consigue mejorar la especificidad de los criterios diagnósticos de la enfermedad de parkinson (EP) y de la atrofia multisistémica (AMS). Pacientes y métodos. Se han estudiado 20pacientes con EP y 13 pacientes con AMS. En ausencia de medicación durante 12 horas se determinaron la noradrenalina (NA) y la hormona de crecimiento (GH) en decúbito y la NA tras 5 min en bipedestación. Después se determinó la GH a los 15, 30, 45 y 60 min de una dosis de 0,005 mg/kg de apomorfina. Se analizaron las manifestaciones clínicas de disfunción vegetativa. Finalmente se realizó una prueba aguada de levodopa. Resultados. La respuesta simpática al cambio postural (incremento de NA respecto a la basal) fue superior en los pacientes con EP (EP: 170,90+/-110,8 pg/ml; AMS: 91,33+/-73,79 pg/ml; p=0,029). No hubo diferencias en la respuesta de la GH a la apomorfina (GH 45 min: Ep: 2,37 +/-2,7 ng/ml;AMS: 1,69+/-1,90 ng/ml; ns). Los síntomas de difusión vegetativa fueron más frecuentes en los pacientes con AMS. El estridor fue específico de la AMS. El beneficio obtenido en la prueba de levodopa fue superior en los pacientes con EP (EP: 39,7%; AMS: 17,89; P=0,019). Discusión. La respuesta simpática a los cambios posturales, la descrpción de los síntomas de disfunción vegetativo y la respuesta motora en la prueba de levodopa son útiles para mejorar la especificidad de los criterios diagnósticos de la EP y de la AMS. El test de la GH con apomorfina no ha sido útil para el diagnóstico diferencial

Introduction. The aim of this study is to show if the exploration of the automatic nervous system is useful to improve the specificity of clinical criteria of Parkinson´s (PD) and Multiple System Atrophy (MSA). Patients and methods. 20 patients with PD and 13 patients with MSA were studied. After 12 hours in off medication, NE and GH were measured in supine position and NE after 5 minutes standing. Later, GH levels were recorder at 15, 30, 45 and 60 minutes after a dose of 0.005 mg/kg of apomorphine. Finally, analysis of the symptoms of autonomic dysfunction and levodopa test were carried out. Results. Sympathetic response to postural changes was significantly higher in patients with PD (NE increase in relation to basal: PD 170.90+/-110.08 pg/ml; MSA: 91.33+/-73.79 pg/ml; p=0.029). No differences were found in the response of GH to apomorphine (GH peak at 45 minutes: PD: 2.37+/-2.7 ng/ml; MSA: 1.69+/-1.90 ng/ml; ns). The symptoms of autonomic dysfunction were more frequently in patients with PD (PD: 39.7%; MSA: 17.89; p=0.019). Discussion. Sympathetic response to postural changes, description of symptoms of autonomic dysfunction, and motor response to levodopa test are useful tools in order to improve specificity of the diagnostic criteria of PD and MSA. The GH test with apomorphine was not useful for a differential diagnosis

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

BACKGROUND: Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene. In some families the genetic basis is still unknown. The authors report two pedigrees with FTDP-17 harboring a novel mutation (K317M) in exon 11 in the MAPT gene. METHODS: The authors identified two apparently unrelated pedigrees with an autosomal dominant neurodegenerative condition. Thirteen patients were examined and eight autopsies were performed. RESULTS: Mean age at onset was 48 years. Mean disease duration was 6 years. Dysarthria often heralded the disease. All cases had parkinsonism and pyramidalism and half of them had amyotrophy. Behavioral or personality changes were not a prominent feature. Cognitive decline appeared late in the evolution. Neuropathologically, a massive degeneration of the substantia nigra without Lewy bodies was a constant finding. A variable degree of frontotemporal atrophy was found. Corticospinal tract degeneration and anterior horn neuron loss were present in six of seven autopsies in which the spinal cord was examined. An extensive deposition of abnormal tau protein in a mixed pattern (neuronal, glial) was observed. Pick's bodies were not seen. Biochemical analysis of tau revealed two bands of 64 and 68 kDa. CONCLUSION: Genetic analysis revealed the same novel mutation (K317M) in exon 11 of the MAPT gene in both pedigrees. A common haplotype between members of the two pedigrees suggests that they belong to the same family.

Análisis físico-matemático de la influencia de las condiciones ambientales locales en las prestaciones del vacío medico / Physical-mathematical analysis of the influence of local weather conditions on the performance of the medical vacuum

Para elaborar este trabajo se ha partido de una central de referencia: a nivel del mar (760 mm Hg) y 20 ºC, y la cruzamos con los datos de 90 observatorios meteorológicos de España viendo cómo se alteran sus prestaciones. Influencia de la presión atmosférica local Influencia en la toma La potencia disminuye al disminuir la presión atmosférica ambiente. Por ejemplo en Soria (668 mm Hg) la potencia se reduce un 12,11 por ciento respecto a si la misma toma estuviese a nivel del mar. Influencia en la capacidad de las centrales Se ha realizado un análisis bajo dos criterios: 1. Conseguir un vacío de -500 mm Hg sobre la presión atmosférica local sin corregir el caudal ambiente (consideramos el caudal ambiente como geométrico). Si el nominal de dos hospitales gemelos (uno al nivel del mar y otro en Soria) fuera de 200 m3/h según norma HTM-22, pero en Soria deberían ser 270 m3 /h. Una proporción importante de observatorios necesitaría un incremento entre el 10 y el 20 por ciento. Hay casos extremos, variaciones mayores del 50 por ciento, como Izaña con un factor de corrección máximo de 2,62 (con respecto al caso anterior en lugar de 200 seria 524 m 3/ h).2. Dimensionar la central necesaria para suministrar la misma potencia que si estuviera al nivel del mar, pero corrigiendo los diferentes caudales ambientes. Siguiendo con el ejemplo de Soria obtenemos bajo este nuevo criterio un factor de corrección es de 1,5 veces. En el mismo caso de los hospitales gemelos (uno a nivel del mar y el otro en Soria) el de Soria se necesitarla 300 m3 /h en lugar de los 200 m3 /h mencionados. Como antes Izaña es el lugar con el máximo factor de corrección: 3,25 (lo que implicaría una central de 650 m3/h).Uno de cada cinco observatorios precisaría un incremento de capacidad entre el 20 y el 30 por ciento y uno de cada 20 precisaría un incremento mayor del 50 por ciento. Influencia de la temperatura local Aunque el hospital esté climatizado, las salas de máquinas no lo están y el gas circulante por la red de vacío tenderá a tomar la temperatura ambiente de la central. Por ejemplo, si la temperatura de la sala de máquinas es de 40ºC implica que el caudal de la bomba tendrá que ser un 6,8 por ciento más grande para compensar el aumento de temperatura con respecto a la referencia de 20°C.Sevilla es el lugar con una variación máxima: 1,09. Como estadística, utilizando sólo las temperaturas máximas registradas, hay que decir que la mayoría de observatorios, precisarían un incremento de capacidad mayor del 7 por ciento, en los casos más extremos, se necesitarían incrementos del 9 por ciento. Conclusiones Las condiciones climatológicas son factores a tener en cuenta en el diseño de centrales de vacío medico (AU)

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[Unilateral optic neuropathy associated to a dural arterio-venous fistula]. / Neuropatía óptica unilateral asociada a fístula arteriovenosa dural.

We report the case of a 43-year-old female patient that had a subacute loss of visual acuity on her left eye, initially lacking any additional symptom or sign of intracranial hypertension. She was diagnosed and studied as an optic neuropathy. The cranial MR was normal and it did not show changes on the signal of the optic nerve. The patient did not improve with steroidal treatment. She was re-admitted three months later due to cephalalgia without any modification of the visual symptomatology. On this occasion a high intracranial pressure (400 mmH20) was recorder on lumbar tap. A thrombosis of the right transverse sinus with an associated complex dural arterio-venous fistula, was visualized at the Angio-MRI and cerebral arteriography. We suggest a relationship between optical neuropathy and dural arterio-venous fistula. We also discuss the attitude with regard to patients suffering from optic neuropathies and endocranial hypertension of uncertain origin.

Neuropatía óptica unilateral asociada a fístula arteriovenosa dural / Unilateral optic neuropathy associated to a dural arterio-venous fistula

Presentamos el caso de una paciente de 43 años con pérdida subaguda de agudeza visual del ojo izquierdo, con borramiento papilar y sin síntomas de hipertensión endocraneal, compatible con el diagnóstico inicial de neuropatía óptica. La resonancia magnética nuclear (RMN) craneal fue normal, sin alteración en la señal del nervio óptico. La paciente no mejoró con tratamiento esteroide y a los tres meses reingresó por cefalea, sin modificación de los síntomas visuales. En esta ocasión se detectó una presión intracraneal elevada (400 mmH20), y en la angio-RMN y la arteriografía cerebral se visualizó una trombosis del seno transverso del lado derecho, junto con el desarrollo de una fístula arteriovenosa dural (FAVD). Se plantea la relación entre la neuropatía óptica y la FAVD y se comenta la actitud a seguir ante pacientes con neuropatías ópticas e hipertensión endocraneal de origen incierto (AU)