Vasculitis aislada del sistema nervioso central que imita una encefalitis de Rasmussen / Isolated vasculitis of the central nervous system resembling Rasmussen´s encephalitis

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[Diagnosis of mesial temporal sclerosis with magnetic resonance imaging]. / El diagnóstico de la esclerosis temporal mesial mediante imagen de resonancia magnética.

INTRODUCTION: Mesial temporal sclerosis (MTS) is a progressive drug-resistant epileptic syndrome which requires rapid, effective diagnosis and treatment. Histologically there is atrophy and gliosis of the hippocampus. OBJECTIVE: To establish magnetic resonance (MR) imaging guidelines for correct diagnosis. PATIENTS AND METHODS: We made a prospective study of 78 patients with drug-resistant temporal lobe epilepsy (44 women and 34 men; age 6-66 years, mean 31 years). Using a magnet of 1.5 Teslas paracoronal sections were made of the hippocampus with T1 volumetric with inversion-recovery, FLAIR (fluid-attenuated inversion-recovery) and T2 relaxometry. A control group of 30 healthy volunteers was established. The reduction in volume and hippocampal T2 hyperintensity were considered to be MTS diagnosed on MR. RESULTS: No hippocampal differences were observed among the healthy volunteers. The confidence intervals (mean +/- 1.96 SD) were: right volume: 4.169-5.911 mm3; left volume: 4.097-5.940 mm3; time of T2 relaxation: 98-113 ms. MTS was observed in 42 patients (54%): 24 left, 14 right and four asymmetrical bilateral. The results of the diagnostic validity (sensitivity/specificity) were: T1 volumetric 91/92%, FLAIR 93.5/98% and T2 relaxometry 91/92%. There was atrophy of other extrahippocampal structures in five cases of MTS; 10 patients with MTS (23.5%) had another extrahippocampal lesion associated (dual pathology), particularly migration disorders; 21 patients (27%) had lesions without MTS (tumors, alterations of migration, nonspecific gliosis) and in 15 cases (19%) there were no abnormal findings. A total of 27 patients were operated on: 22 with MTS (21 had diagnostic MR, one case had no abnormal findings), four cases had tumors and one had cortical dysplasia. CONCLUSION: The combination of quantitative techniques (T1 volumetric with inversion-recovery and T2 relaxometry) and FLAIR optimize MTS diagnosis using MR.

El diagnóstico de la esclerosis temporal mesialmediante imagen de resonancia magnética / The diagnosis of mesial temporal sclerosis by magnetic resonance imaging

Introducción. La esclerosis temporal mesial (ETM) es un síndrome epiléptico farmacorresistente, progresivo y que requiere diagnóstico y tratamiento rápidos y eficaces. Histológicamente presenta atrofia y gliosis del hipocampo. Objetivo. Establecer un protocolo de imagen de resonancia magnética (RM) para su diagnóstico correcto. Pacientes y métodos. Realizamos un estudio prospectivo de 78 pacientes con epilepsia del lóbulo temporal farmacorresistente (44 mujeres y 34 varones; edad: 6-66 años, media: 31 años). Con imán de 1,5 Teslas se realizaron cortes paracoronales a hipocampos con volumetría-T1 con inversión-recuperación, FLAIR (fluid-attenuated inversion-recovery) y relaxometría-T2. Se estableció un grupo control de 30 voluntarios sanos. Se consideró ETM por RM la disminución de volumen e hiperintensidad-T2 hipocampal. Resultados. En los voluntarios sanos no existieron diferencias entre hipocampos. Los intervalos de confianza (media ñ 1,96 DE) fueron: volumen derecho: 4.169-5.911 mm3; volumen izquierdo: 4.097-5.940 mm3; tiempo de relajación T2: 98-113 ms. Se detectó ETM en 42 pacientes (54 por ciento): 24 izquierdas, 14 derechas y cuatro bilaterales asimétricas. Los resultados de validez diagnóstica (sensibilidad/especificidad) fueron: volumetría-T1 91/92 por ciento, FLAIR 93,5/98 por ciento y relaxometría-T2 91/92 por ciento. Cinco casos de ETM presentaron atrofia de otras estructuras extrahipocampales; 10 pacientes con ETM (23,5 por ciento) asociaron otra lesión extrahipocampal (patología dual), sobre todo alteraciones de migración; 21 pacientes (27 por ciento) mostraron lesiones sin ETM (tumores, alteraciones migracionales, gliosis inespecíficas) y 15 casos (19 por ciento) no mostraron hallazgos. Un total de 27 pacientes fueron intervenidos: 22 con ETM (21 con RM diagnóstica y un caso sin hallazgos), cuatro con tumores y uno con displasia cortical. Conclusión. La combinación de técnicas cuantitativas (volumetría-T1 con inversión-recuperación y relaxometría-T2) y FLAIR optimiza el diagnóstico de ETM mediante RM (AU)

[Genotype-phenotype correlation in myotonic dystrophy and prediction of clinical seriousness]. / Correlación genotipo-fenotipo en la distrofia miotónica y predicción de la gravedad clínica.

INTRODUCTION: Since description of the expansion of the number of CTG trinucleotides on the long arm of chromosome 19 in the 19 q 13.2-13.3 interval as being responsible for myotonic dystrophy (DM), many studies have established a direct relationship between the size of the expansion and the severity of the manifestations. OBJECTIVES: To evaluate the clinico-genetic correlation in a population with DM in Eastern Andalucia and to establish the predictive value of the increase in number of CTG repetitions with regard to clinical gravity. PATIENTS AND METHODS: A transverse study of persons from families known to have members with DM, classified with regard to the clinical gravity of their illness. Diagnosis was by means of clinical neurological, ophthalmological and neurophysiological examination and subsequently by genetico-molecular study, Southern blot, PCR, oligonucleotide CTC hybridization and Northern blot. RESULTS: Genetic studies confirmed the previous clinical diagnosis of DM in 78 persons, of the 145 studied, who came from 32 families. The average size of the mutation was 1-5 kb. There was close correlation between the size of the expansion and the clinical condition. Logistic repression studies permitted adequate classification in function of the size of the expansion in 87.23% of the cases of clinically relevant illness and in 90% of the cases in which the condition was not clinically relevant. CONCLUSIONS: There is a strong association between the clinical features of DM and the magnitude of the mutation. The size of the expansion has considerable predictive value in prognosis of the disorder. This may be useful when making decisions during prenatal diagnosis.

[Mesial temporal sclerosis (II): clinical features and complementary studies]. / Esclerosis temporal mesial (II): manifestaciones clínicas y estudios complementarios.

OBJECTIVE: To collect clinical data and diagnostic characteristics of the mesial temporal sclerosis syndrome (MTS). Development. CLINICAL FEATURES: In MTS repeated temporal lobe seizures, difficult to control pharmacologically, are seen in patients with neuropsychological defects which can be shown by appropriate tests. There is no pathognomonic clinical data. However, there is frequently: 1. Onset of seizures during childhood (6-10 years old). 2. Presence of some type of aura. The only significantly related types are visceral, olfactory and uncinate. 3. A pattern of conduct typical of ictus, although this is nonspecific: Early ipsilateral manual automatism and contralateral tonic posture. 4. Infrequent generalization. Surface EEG: Acute elements and/or slow waves in interictal recordings localized to the anterior temporal region, either unilateral or bilateral and with independent expression. MR of encephalum: Two typical ipsilateral findings at the electric focus of independent presentation and not mutually exclusive: a) Hippocampal hyperdensity in T2 sequences. b) Atrophy of hippocampal structures. FDG-PET: Interictal pattern of ipsilateral temporal hyperperfusion with typical maximal involvement of the polar region. SPECT-HMPAO: Early ictal and post-ictal pattern of ipsilateral temporal hyperperfusion. CONCLUSIONS: MTS is a clinical syndrome with its own identity from the clinical and diagnostic point of view. Results of the non-invasive tests currently available make invasive tests unnecessary in the preoperative guidelines for these patients.

[Mesial temporal sclerosis (I): histological data, physiopathological hypothesis and etiological factors]. / Esclerosis temporal mesial (I): datos histológicos, hipótesis fisiopatológicas y factores etiológicos.

OBJECTIVE: To review the main anatomical, histological, physiopathological and aetiological data characteristic of the mesial temporal sclerosis syndrome (ETM). Development. The typical histological findings in ETM are: 1) A specific pattern of loss of neurone density which includes so-called endfolium sclerosis (considered to be a specific pathological entity always found in ETM), and which is usually accompanied by neurone loss in other hippocampal and extra-hippocampal regions. The CA2 region is never affected. 2) Phenomenon of 'mossy fibers sprouting' which are granulosa cells which form two types of synapses: with the the 'basket cells' which are inhibitory interneurones and with the dendrites of granulosa or pyramidal cells of the CA1, CA2 and CA3 Ammon horn cells which are excitatory cells. CONCLUSIONS: Probably these organic changes are both the cause and effect of repeated convulsions. Participation in this self-perpetuating circuit may be due to recognised risk factors of ETM (head injury, CNS infections, febrile convulsions in early stages of development) which cause, first of all, death of neurones of the dentate gyrus cells followed by reduced inhibitory activity of the 'basket' cells and therefore sustained hyper-excitability of the pyramidal cells (especially in the CA3 regions), which are responsible for complex partial seizures and massive liberation of glutamic acid. Glutamic acid can cause death of neurones of the granulosa cells of the dentate gyrus, thus closing the circuit. This hypothesis explains the progressive nature of the ETM syndrome. When there is pathology of the cortical structure there is another access via to this circuit--by means of cortical discharges of the so-called perforant pathway which stimulates activity of the pyramidal cells and sets off the chain of events described above. This hypothesis explains the so-called 'dual pathology'.

[Callosotomy in the treatment of drug-resistant epilepsy]. / La callosotomía en el tratamiento de la epilepsia farmacorresistente.

At the present time corpus callosotomy is a valuable option in the management of some patients with drug-resistant epilepsy who are not candidates for resective procedures. The records of six patients who underwent callosotomy at 'Hospital Virgen de las Nieves' (Granada, Spain) in the past four years were retrospectively analyzed. The patients all had intractable primary or secondarily generalized seizures, were severely handicapped by its frequency and nature (especially with drop attacks and multiple injuries) and were not suitable for other surgical procedure. The results of surgery (five anterior callosotomies and one subtotal section) are described after an average follow-up period of 2.5 years. Overall, four patients achieved significant improvement (at least 50% reduction in seizure frequency, severity, or both, affecting quality of life), with a marked reduction (> 75%) in two of them. There was no clinical deterioration, significant surgical complication nor relevant additional long-term neuro-psychological deficit in any case. Previous studies have been reviewed mainly to find those prognostic factors associated with a better seizure outcome or with the occurrence of complications. The best results are obtained in those patients with drop attacks (including atonic seizures) as the most frequent and disabling seizure type. According to the type of epilepsy, patients with localization-related epilepsy (especially when symptomatic of a focal brain damage) and those with the Lennox-Gastaut syndrome are the most likely to benefit from the procedure. It is suggested that, in the first place, a two-thirds anterior callosotomy should be performed particularly with atonic seizure are the most frequent seizure type. We may proceed with completion of callosal division as a second stage in those patients in whom a significant improvement has not been observed. In severely retarded patients with multiple seizure types, one-stage complete section may be performed. The procedure is relatively safe, with a low incidence of morbidity and clinically significant long-term neuro-psychological deficits. Further larger clinical studies are necessary to elucidate many aspects which are still unresolved. More uniformity would be desirable in the evaluation of patients, surgical technique, follow-up and presentation of results.

[Non-giant cell temporal arteritis as a manifestation of Churg-Strauss syndrome. Presentation of a case and review of literature]. / Arteritis no de células gigantes de la temporal como manifestación clínica del síndrome de Churg-Strauss. Presentación de un caso y revisión de la literatura.

Most cases of temporal arteritis are of the giant cell variety, with cases involving other histologic patterns occurring rarely. There are only 4 descriptions in the literature of non giant cell temporal arteritis as a manifestation of Churg-Strauss syndrome. We report the case of a 74-year-old man with a history of bronchial asthma who presented with systemic symptoms and right temporal cephalea with diplopia, diffuse muscle pain and transient skin lesions on the extremities. The right temporal artery was enlarged and painful but pulsatile. Tests showed a high erythrocyte sedimentation rate and leukocytosis with relative and absolute eosinophilia. Biopsy of the temporal artery revealed polymorphic inflammatory infiltration throughout the vas, with numerous eosinophils and non giant cells, confirming a diagnosis of Churg-Strauss syndrome with extension to the temporal artery. Temporal arteritis should be considered a syndrome with variable substrate pathology; the possibility that it is a rare manifestation of systemic necrotizing vasculitis should not be ruled out.

[Hemidiaphragmatic paralysis as a manifestation of familial brachial plexus neuropathy]. / Parálisis hemidiafragmática como manifestación de la plexopatía braquial familiar.

We present a patient with familial brachial plexus neuropathy (FBPN) who is in the second generation of a family found to have this disease. The patient suffered phrenic paralysis, which has only been previously described in association with FBPN in 4 similar cases, all of which also involved the left phrenic nerve. The side of phrenic paralysis's was unrelated to the side where brachial plexus lesions occurred. We believe that paralysis of the diaphragm, although rare, can be considered a sign of FBPN and that therefore this disease should be included in the differential diagnosis of such paralysis. This is particularly so whenever family or personal history suggest that the peripheral nervous system may be involved, compromising the brachial plexus, or whenever facial or digital dysmorphia is present.

[Clinical iconographic dissociation in a case of monophasic demyelinating disease]. / Disociación clinicoiconográfica en un caso de enfermedad desmielinizante monofásica.

We report a patient with monophasic inflammatory demyelinizing disease whose initial symptoms and imaging studies led to the undertaking of a cerebral biopsy for suspicion of an expansive process. The evolution of the both the CT and MR imaging studies with contrast and overall the surprising size of the lesions in MR when the patient was clinically asymptomatic support the hypothesis of residual dysfunction in the hemato-encephalic barrier as a cause of the persistence of MR images. This explanation appears more acceptable than its attribution to a gliosis secondary to previous inflammation.