Diagnóstico de síndrome de HaNDL / Diagnosis of HaNDL syndrome

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[Early-onset Parkinsonism. A report on a Spanish series]. / Parkinson de inicio precoz. A proposito de una serie espanola.

INTRODUCTION: Early-onset Parkinsonism is a condition that has received little attention from researchers due to its low incidence and prevalence. We conducted a retrospective, cross-sectional, multi-centre study in order to obtain a representative sample of the Spanish population. PATIENTS AND METHODS: The study involved 92 Spanish patients who had been diagnosed with idiopathic Parkinson's disease that began before the age of 40 years and these patients were divided into two groups: group 1, which consisted of 86 patients, with an age at onset of between 21 and 40 years (early-onset Parkinsonism), and group 2, with an age at onset of below 21 years, which included a total of 6 patients (juvenile Parkinsonism). Our analysis involved demographic data, patient's personal and family history, age and symptoms of onset of the disease, complementary studies, drug therapy and pharmacological complications. RESULTS: In group 1 we found a high incidence of early-onset Parkinsonism in the family. In our series there was a clear predominance of patients from urban settings. The predominant form of onset was akinesia, followed by tremor at rest, rigidity and postural tremor. Since they began treatment with levodopa, some patients presented fluctuations and dyskinesias which progressively increased over the years. CONCLUSIONS: Our series of patients is not wholly similar to those reported in the literature; it is comparable, however, to those found in western countries and can be considered to be valid due to the number of cases analysed and owing to the fact that patients were selected from different areas around Spain. This provides an overall picture of this subtype of Parkinson's disease for the country as a whole.

[Single fibre electromyography in 18 patients with amyotrophic lateral sclerosis]. / Electromiograma de fibra única en 18 pacientes con esclerosis lateral amiotrófica.

INTRODUCTION: Single fibre electromyography (SFEMG) is a method that complements conventional electromyography and studies the activity of individual muscle fibres and of the neuromuscular junction. AIMS. We attempt to demonstrate the presence of reinnervation disorders by studying Jitter, fibre density (FD) and the presence of neurogenic blocks in patients with amyotrophic lateral sclerosis (ALS). PATIENTS AND METHODS: SFEMG was carried out on 18 patients diagnosed with ALS. All the patients were submitted to a voluntary SFEMG in the extensor digitorum communis muscle of the fingers on the most affected side. RESULTS: The SFEMG in the extensor digitorum communis muscle of the fingers showed alterations in 13 out of the 18 patients studied (72%). FD was the most reliable parameter for translation of the motor neuron instability and increased in all cases. This was followed by the mean and the maximum individual (62%) Jitter and, lastly, the percentage of blocks (38%). CONCLUSIONS: In ALS, the parameters studied with SFEMG were modified in 72% of the cases studied. There is an overall correlation between the length of time the patient has had the disease and the modifications in the SFEMG (21.5 versus 13.7 months). The degree of clinical involvement is higher (6.5/13) in those who present an altered SFEMG compared to those who present a normal SFEMG (5.3/13).

[The value of diffusion magnetic resonance imaging in diagnosing infarction of the anterior spinal artery]. / Utilidad de la resonancia magnética de difusión en el diagnóstico de infarto de la arteria espinal anterior.

INTRODUCTION: The diagnosis of ischemic lesions affecting the spinal cord is sometimes difficult to confirm using conventional magnetic resonance imaging (MRI) techniques, and this makes it necessary to use those currently available to their full extent and also to search for new ones. CASE REPORT: We report the case of an 81-year-old male patient who presented symptoms of sudden onset paraparesis, secondary to lesions in the anterior spinal territory and whose diagnosis was reached using conventional spinal cord MRI, and later confirmed with the diffusion imaging technique. Diffusion MRI in the spinal cord territory, as well as in the brain territory, is a very interesting first choice technique when an ischemic pathology is suspected. Using only T2-weighted images does not allow acute ischemic lesions to be distinguished from chronic lesions; likewise, intramedullary T2 hyperintensity and standard DWI (Diffusion Weighted Imaging) is not specific to acute spinal ischemia, and the determination of the apparent diffusion coefficient in the lesion may help in the differential diagnosis of diseases affecting the spinal cord. CONCLUSIONS: Including diffusion RMI techniques in the study protocols in cases of ischemic spinal cord pathologies is indispensable today if we hope to reach a fast and correct diagnosis.

Utilidad de la resonancia magnética de difusión en el diagnóstico de infarto de la arteria espinal anterior / The value of diffusion magnetic resonance imaging in diagnosing infarction of the anterior spinal artery

Introducción. El diagnóstico de las lesiones isquémicas medulares es en ocasiones difícil de confirmar mediante las técnicas convencionales de resonancia magnética (RM), por lo que es preciso utilizar exhaustivamente las disponibles, además de buscar otras nuevas. Caso clínico. Presentamos un caso de un paciente de 81 años de edad que presentó un cuadro de paraparesia de instauración brusca, secundaria a lesión en el territorio de la arteria espinal anterior y cuyo diagnóstico se realizó mediante RM medular convencional y se confirmó con técnica de difusión. La RM de difusión en el territorio medular, como también en el territorio cerebral, es una técnica de gran interés y de primera elección cuando hay sospecha de patología isquémica. Utilizando únicamente las imágenes potenciadas en T 2 no es posible distinguir entre lesiones isquémicas agudas y lesiones crónicas; asimismo, la hiperintensidad intramedular en T 2 y DWI (diffusion weighted imaging) estándar no es específica de isquemia aguda espinal, y la determinación del cociente aparente de difusión en la lesión puede ayudar en el diagnóstico diferencial de las enfermedades de la médula espinal. Conclusión. La inclusión de las técnicas de RM de difusión en los protocolos de estudio en la patología isquémica medular es imprescindible hoy día si se quiere realizar un diagnóstico rápido y correcto

Introduction. The diagnosis of ischemic lesions affecting the spinal cord is sometimes difficult to confirm using conventional magnetic resonance imaging (MRI) techniques, and this makes it necessary to use those currently available to their full extent and also to search for new ones. Case report. We report the case of an 81-year-old male patient who presented symptoms of sudden onset paraparesis, secondary to lesions in the anterior spinal territory and whose diagnosis was reached using conventional spinal cord MRI, and later confirmed with the diffusion imaging technique. Diffusion MRI in the spinal cord territory, as well as in the brain territory, is a very interesting first choice technique when an ischemic pathology is suspected. Using only T 2 -weighted images does not allow acute ischemic lesions to be distinguished from chronic lesions; likewise, intramedullary T 2 hyperintensity and standard DWI (Diffusion Weighted Imaging) is not specific to acute spinal ischemia, and the determination of the apparent diffusion coefficient in the lesion may help in the differential diagnosis of diseases affecting the spinal cord. Conclusions. Including diffusion RMI techniques in the study protocols in cases of ischemic spinal cord pathologies is indispensable today if we hope to reach a fast and correct diagnosis

Electromiograma de fibra única en 18 pacientes con esclerosis lateral amiotrófica / Single fibre electromyography in 18 patients with amyotrophic lateral sclerosis

Introducción. La electromiografía de fibra única (SFEMG) es un método complementario a la electromiografía convencional y estudia la actividad de las fibras musculares individuales y de las placas motoras. Objetivo. Intentamos evidenciar la presencia de alteraciones de reinervación estudiando el jitter, la densidad de fibras (DF) y la presencia de bloqueos neurogénicos en pacientes afectados de esclerosis lateral amiotrófica (ELA). Pacientes y métodos. Practicamos una SFEMG a 18 pacientes diagnosticados de ELA. A todos se les practicó una SFEMG voluntaria en el músculo extensor común de los dedos del lado más afectado. Resultados. La SFEMG en el músculo extensor común de los dedos, está alterada en 13 de los 18 pacientes estudiados (72%). La DF ha sido el parámetro más fiable para traducir la inestabilidad de la motoneurona, y aumentó en todos los casos. Le siguió el jitter medio y el máximo individual (62%), y, por último, el porcentaje de bloqueos (38%). Conclusiones. En la ELA los parámetros estudiados con la SFEMG se alteran en el 72% de los casos estudiados. Existe una correlación global entre el tiempo de evolución de la enfermedad y la alteración de la SFEMG (21,5 frente a 13,7 meses). El grado de afectación clínica resulta mayor (6,5/13) en los que presentan una SFEMG alterada que en los que la presentan normal (5,3/13)

Introduction. Single fibre electromyography (SFEMG) is a method that complements conventional electromyography and studies the activity of individual muscle fibres and of the neuromuscular junction. Aims. We attempt to demonstrate the presence of reinnervation disorders by studying Jitter, fibre density (FD) and the presence of neurogenic blocks in patients with amyotrophic lateral sclerosis (ALS). Patients and methods. SFEMG was carried out on 18 patients diagnosed with ALS. All the patients were submitted to a voluntary SFEMG in the extensor digitorum communis muscle of the fingers on the most affected side. Results. The SFEMG in the extensor digitorum communis muscle of the fingers showed alterations in 13 out of the 18 patients studied (72%). FD was the most reliable parameter for translation of the motor neuron instability and increased in all cases. This was followed by the mean and the maximum individual (62%) Jitter and, lastly, the percentage of blocks (38%). Conclusions. In ALS, the parameters studied with SFEMG were modified in 72% of the cases studied. There is an overall correlation between the length of time the patient has had the disease and the modifications in the SFEMG (21.5 versus 13.7 months). The degree of clinical involvement is higher (6.5/13) in those who present an altered SFEMG compared to those who present a normal SFEMG (5.3/13)

Síndrome de la persona rígida: manifestación de afectación inmunológica específica del sistema nervioso central / Stiff man syndrome: a specific immunological condition affecting the central nervous system

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