[Post-stroke epilepsy]. / Epilepsia postictus.

AIMS: To study the characteristics and clinical course of the seizures in patients with post-stroke epilepsy, to evaluate the clinical behaviour of the epilepsy depending on the early or late onset of the seizures, and to analyse the effectiveness of antiepileptic treatment. PATIENTS AND METHODS: Since 1990, a total of 1400 patients have been analysed at the epilepsy service. Epilepsy was diagnosed as having a vascular origin in 69, and after suffering a stroke 41. A retrospective study was conducted with the following eligibility criteria: suffering a stroke and, later, at least one crisis as a result of the first event. RESULTS: Mean age at the time of the stroke: 54.7 +/- 20.5 years (range: 3-85 years). FOLLOW-UP: 7.6 years (53.7% over 5 years). Type of stroke: ischaemic, 75.6%, and haemorrhagic 24.4%. Aetiology of the stroke: atherothrombotic, 29.2%, and cardioembolic, 24.4%. Mean interval between the stroke and the first seizure: 18 months (range: 0-17 years) (six patients the same day the stroke occurred, all of which were haemorrhagic). Type of seizures: secondarily generalised partial, 60.9%; generalised primary, 21.9%; and partial, 17.1%. Single crisis: 19.5%. Early seizures, 36.6%, and late, 63.4%. In all, 19.1% of the patients suffered a single crisis after the stroke. TREATMENT: phenytoin (43.9%), carbamazepine (19.5%) and lamotrigine (19.5%). Fourteen patients required combination therapy. At the end of the follow-up 53.7% were free of seizures. CONCLUSIONS: In the analysis that was performed, an association was found between a cardioembolic aetiology and late onset of the seizures. On comparing the type of seizures, early versus late, the courses paralleled each other in the two types of patients. A little over half the patients were free of seizures.

Displasia fibromuscular, disección y oclusión asintomática de la arteria basilar / Fibromuscular dysplasia. Asymptomatic dissection and occlusion of the basilar artery

Introducción. Clásicamente, la oclusión de la arteriabasilar ha sido considerada una entidad de mal pronóstico ycon alta tasa de morbimortalidad. Estudios prospectivos másrecientes sugieren, sin embargo, un pronóstico más benigno.La arteria basilar se afecta sobre todo por la arteriosclerosis,pero también puede ser asiento de embolismos, disecciones,aneurismas y otras afecciones como la displasiafibromuscular.Caso clínico. Un hombre de 46 años fue ingresado por unepisodio transitorio de ataxia y disartria. El Doppler transcranealreveló un flujo estenótico en la arteria basilar conseñales microembólicas distales a la estenosis. La angiografíapor resonancia magnética (RM) demostró una displasiafibromuscular aislada en la arteria basilar que causaba unaestenosis mayor del 50 % sin lesiones parenquimatosas. Seinició tratamiento anticoagulante y 10 meses después, permaneciendoel paciente asintomático, una RM de controlmostraba una disección que evolucionó a oclusión completade la arteria basilar. Su porción distal se rellenaba por flujoinverso desde ambas arterias comunicantes posteriores. Laanticoagulación fue suspendida.Discusión. La displasia fibromuscular de la arteria basilares rara y habitualmente asintomática. Aunque puededesembocar en una disección, la presentación clínica másfrecuente es el ictus isquémico secundario a la estenosis. Lasdisecciones intracraneales se asocian con riesgo de hemorragiasubaracnoidea. Pese a ello, muchos autores recomiendanel tratamiento anticoagulante para la displasia fibromuscular.La oclusión de la arteria basilar, como muestraeste caso, no siempre conlleva un mal pronóstico. Éste estádeterminado, al menos en parte, por la presencia de una circulacióncolateral adecuada (AU)

Introduction. Historically, basilar artery occlusive disease has been considered to convey a poor prognosis and a high mortality rate. In contrast, recently prospective studies have shown a better prognosis. The basilar artery is most commonly affected by atherosclerosis, but may also be affected by embolisms, dissections, aneurysms, and other conditions like fibromuscular dysplasia. Case report. The case of a 46 year-old male who was admitted after suffering a transient episode of ataxic gait and dysarthria is reported. Transcranial Doppler showed a stenotic flow in the basilar artery with distal embolic signals. Magnetic resonance (MR) angiography demonstrated an isolated fibromuscular dysplasia of the basilar artery that caused a > 50% stenosis without parenchymal lesions. Oral anticoagulation treatment was initiated. The control MR angiography performed ten months later, and although the patient was asymptomatic, showed a dissection which evolved into a complete occlusion of the basilar artery. Its distal portion was filled via a reverse flow from both posterior communicating arteries.Anticoagulation treatment was discontinued. Discussion. Fibromuscular dysplasia of the basilar artery is a rare and usually asymptomatic disease. It may develop into a dissection, but the usual clinical presentation is stenosis-related ischemic stroke. Intracranial artery dissections may be further complicated by subarachnoid hemorrhage. Many authors have recommended anticoagulant therapy for fibromuscular dysplasia. Basilar artery occlusion, as this case shows, does not always convey a poor prognosis. This is determined, at least partially, by the presence of good collateral circulation (AU)

[Fibromuscular dysplasia. Asymptomatic dissection and occlusion of the basilar artery]. / Displasia fibromuscular, disección y oclusión asintomática de la arteria basilar.

INTRODUCTION: Historically, basilar artery occlusive disease has been considered to convey a poor prognosis and a high mortality rate. In contrast, recently prospective studies have shown a better prognosis. The basilar artery is most commonly affected by atherosclerosis, but may also be affected by embolisms, dissections, aneurysms, and other conditions like fibromuscular dysplasia. CASE REPORT: The case of a 46 year-old male who was admitted after suffering a transient episode of ataxic gait and dysarthria is reported. Transcranial Doppler showed a stenotic flow in the basilar artery with distal embolic signals. Magnetic resonance (MR) angiography demonstrated an isolated fibromuscular dysplasia of the basilar artery that caused a > 50% stenosis without parenchymal lesions. Oral anticoagulation treatment was initiated. The control MR angiography performed ten months later, and although the patient was asymptomatic, showed a dissection which evolved into a complete occlusion of the basilar artery. Its distal portion was filled via a reverse flow from both posterior communicating arteries. Anticoagulation treatment was discontinued. DISCUSSION: Fibromuscular dysplasia of the basilar artery is a rare and usually asymptomatic disease. It may develop into a dissection, but the usual clinical presentation is stenosis-related ischemic stroke. Intracranial artery dissections may be further complicated by subarachnoid hemorrhage. Many authors have recommended anticoagulant therapy for fibromuscular dysplasia. Basilar artery occlusion, as this case shows, does not always convey a poor prognosis. This is determined, at least partially, by the presence of good collateral circulation.

Genetic influence of the nonclassical major histocompatibility complex class I molecule MICB in multiple sclerosis susceptibility.

It has been widely reported that the major histocompatibility complex (MHC) class II region provides the main genetic contribution to multiple sclerosis (MS) susceptibility. However, recent studies have suggested that the MHC class I region may also contribute to the development of MS. In this study, we investigated the possible association of the human leukocyte antigen (HLA)-B, MHC class I chain-related gene B (MICB) and MHC class I chain-related gene A (MICA) genes, located in the MHC class I region, with MS susceptibility. For this purpose, we analyzed the distribution of HLA-DR, HLA-B, MICB and MICA alleles in 121 MS patients and 156 healthy controls. Neither HLA-B nor MICA alleles were found to be associated with MS susceptibility, and only the frequency of HLA-DRB1*01 allele was found to be increased in controls (31% vs 14%, P(c) = 0.011). However, MICB*004 allele frequency was significantly increased in MS patients (46.3% vs 23.3%, P(c) < 0.001, odds ratio = 2.82, 95% confidence interval = 1.68-4.73). Although, MICB*004 and HLA-DRB1*15 belong to the AH 7.1 ancestral haplotype, the association of MICB*004 to MS susceptibility was found to be independent of HLA-DRB1*15 in our population. This and previous studies clearly suggest that the MHC class I, in addition to class II, could be involved in MS susceptibility.

Perfusion computed tomography-guided subacute endovascular reperfusion in a patient with carotid occlusion.

Most patients with symptomatic internal carotid artery occlusion have a single minor or major hemispheric stroke. A minority of patients have ipsilateral retinal ischemia, recurrent strokes, or transient ischemic attacks. Whereas spontaneous carotid recanalization is rare, acute surgical recanalization has been attempted, with mixed results. Recently, acute endovascular recanalization has been performed and described as feasible and relatively safe. We describe a patient with symptom recurrence related to hemodynamic factors after occlusion of the carotid artery who was successfully treated 14 days after symptom onset.

Clinical behavior of multiple sclerosis is modulated by the MHC class I-chain-related gene A.

It is well known that certain HLA class II alleles confer an increased risk for developing multiple sclerosis (MS). Recent studies have suggested HLA class I as a region that may also contribute to the development of MS. In this study, we investigated the association between HLA-DR, HLA-B alleles, and major histocompatibility complex (MHC) class I-chain-related gene A (MICA) transmembrane (MICA-TM) polymorphisms and disease progression in 104 MS patients and 116 healthy controls. DR1 was found to be decreased in patients when compared with controls (p(c) = 0.012). Neither HLA-B nor HLA-DR alleles were found to be associated with MS susceptibility. Furthermore, the prevalence of MICA-A5 in patients with relapsing MS was 9% while the prevalence in progressive forms was 42% (p(c) = 0.0015). The extended haplotypes related to MICA-TM5 that were found in our population were DR7-MICA5-B64 (EH 64.1, delta(s) = 0.38), DR4-MICA5-B62 (EH 62.1, delta(s) = 0.28), and DR11-MICA5-B35 (EH35.1, delta(s) = 0.10), but none of them were found to be associated to MS susceptibility or disease progression. Our data could indicate a possible role of MICA-TM in MS prognosis.

[Light-induced amaurosis fugax]. / Amaurosis fugax inducida por la luz intensa.

INTRODUCTION: Internal carotid artery atherosclerotic disease may present with a wide variety of ipsilateral ocular symptoms and signs that can herald a devastating stroke. Asymptomatic retinal emboli, transient monocular visual loss (also known as amaurosis fugax) and central retinal artery occlusion are the most common. CLINICAL CASE: A 66-year-old man presented several spells of monocular light-induced amaurosis fugax related to a severe carotid occlusive disease. Ancillary tests showed an exhausted cerebrovascular reactivity and visual evoked potentials demonstrated an increased latency. Following a carotid endarterectomy the patient remained asymptomatic and ancillary tests normalized. DISCUSSION: Our report supports the theory that light-induced amaurosis fugax occurs on a hemodynamic basis. A prompt recognition of this symptom is critical since symptomatic severe carotid stenosis implies a high risk of ipsilateral stroke.

Amaurosis fugax inducida por la luz intensa / Light-induced amaurosis fugax

Introducción. La enfermedad arterioesclerótica de la arteria carótida interna puede dar lugar a una gran variedad de síntomas y signos oculares ipsolaterales que pueden preceder a un ictus devastador. La emolización retiniana asintomática, la amaurosis fugax y la oclusión de la arteria central de la retina son las manifestaciones oculares más frecuentes. Caso clínico. Un paciente de 66 años experimentó repetidos episodios de amaurosis fugax inducida por la luz intensa en el contexto de una estenosis carotídea ipsilateral severa. Las pruebas complementarias mostraron una agotamiento de la reserva hemodinámica cerebral y un retraso de los potenciales evocados visuales en ese ojo. Tras la endarterectomía carotídea el pacient no experimentó nuevos episodios de amaurosis y las pruebas complementarias se normalizaron. Conclusiones. Nuestro caso apoya la teoría de que el fenómeno de amaurosis fugax inducida por la luz intensa tiene un origen más hemodinámico que embólico. La identificación precoz de este síntoma es crucial dado el alto riesgo de ictus que supone la estenosis carotídea sintomática severa

Introduction. Internal carotid artery atherosclerotic disease may present with a wide variety of ipsilateral ocular symptoms and signs that can herald a devasting stroke. Asymptomatic retinal emboli, transient monocular visual loss (also known as amaurosis fugax) and central retinal artery occlusion are the most common. Clinical case. A 66-years-old man presented several spells of monocular carotid occlusive amaurosis fugax related to severe carotid occlusive disease. Ancillary tests showed an exhausted cerebrovascular reactivity and visual evoked potentials demonstrated an increased latency. Following a carotid endarterectomy the patient remained asymptomatic and ancillary tests normalized. Discussion. Our report supports the theory that light-induced amaurosis fugax occurs on a hemodynamic basis. A prompt recognition of this symptom is critical since symptomatic severe carotid stenosis implies a high risk of ipsilateral stroke

[Functional reorganization of language in a case of cortical development disorder with continuous spike and wave during sleep]. / Reorganización funcional del lenguaje en un caso de trastorno del desarrollo cortical con punta onda continua durante el sueño.

INTRODUCTION: Left cerebral hemisphere dominance for language is a well known fact. However, this typical lateralization may be affected when left hemisphere is damaged at an early age. In this case, neuronal plasticity allows language to be totally or partially transferred to another area within the ipsilateral or contralateral hemisphere. CASE REPORT: 21 year old woman. Congenital right hemiparesis. Focal epilepsy and continuous spike and wave during NREM sleep at 4 years old. Magnetic resonance imaging: extensive malformation of cortical development in the left hemisphere. From 7 years old, seizures were controlled and the continuous spike and wave discharges disappeared. TREATMENT: Valproic acid, 500 mg/day. Neuropsychological assessment showed that basic language functions were well preserved, while there were signs of non-dominant hemisphere dysfunction. These paradoxical results, together with the fact that the patient was left-handed, established the possibility of functional reorganization of language to the right hemisphere. A functional magnetic resonance imaging (fMRI) study for language lateralization demonstrated preferential right hemisphere activation on Broca's and Wernicke's areas. CONCLUSIONS: This case shows the brain's potential for functional reorganization, especially if, according to Kennard's principle, the injury is produced at an early age.

Reorganización funcional del lenguaje en un caso de trastorno del desarrollo cortical con punta onda continua durante el sueño / Functional reorganization of language in a case of cortical development disorder with continuous spike and wave during sleep

Introducción. La dominancia del hemisferio cerebral izquierdo para el lenguaje es un hecho bien conocido. Sin embargo, esta lateralización típica puede verse alterada cuando dicho hemisferio izquierdo sufre una lesión significativa a una edad temprana. En ese caso la plasticidad neuronal permite que el lenguaje pueda ser transferido, total o parcialmente, a otra área dentro del mismo hemisferio o al hemisferio contra lateral. Caso clínico. Mujer de 21 años. Hemiparesia derecha congénita. Epilepsia focal con evolución a punta onda continua durante el sueño NREM a los 4 años. Resonancia magnética: trastorno del desarrollo cortical extenso en hemisferio izquierdo. Desde los 7 años control de las crisis y desaparición de la punta onda continua durante el sueño. Sigue tratamiento con ácido valproico 500 mg/día. Un estudio neuropsicológico mostró una buena preservación de las funciones lingüísticas básicas y signos de afectación del hemisferio no dominante. Estos resultados paradójicos, junto con la zurdería de la paciente, plantearon la posibilidad de una reorganización funcional del lenguaje hacia el hemisferio cerebral derecho. Un estudio mediante resonancia magnética funcional del lenguaje mostró una activación preferentemente derecha en áreas de Broca y Wernicke. Conclusiones. Este caso ilustra la potencialidad de reorganización funcional del cerebro, especialmente si, como establece el principio de Kennard, la lesión se produce a una edad temprana

Introduction. Left cerebral hemisphere dominance for language is a well known fact. However, this typical lateralization may be affected when left hemisphere is damaged at an early age. In this case, neuronal plasticity allows language to be totally or partially transferred to another area within the ipsilateral or contralateral hemisphere. Case report. 21 year old woman. Congenital right hemiparesis. Focal epilepsy and continuous spike and wave during NREM sleep at 4 years old. Magnetic resonance imaging: extensive malformation of cortical development in the left hemisphere. From 7 years old, seizures were controlled and the continuous spike and wave discharges disappeared. Treatment: Valproic acid, 500 mg/day. Neuropsychological assessment showed that basic language functions were well preserved, while there were signs of non-dominant hemisphere dysfunction. These paradoxical results, together with the fact that the patient was left-handed, established the possibility of functional reorganization of language to the right hemisphere. A functional magnetic resonance imaging (fMRI) study for language lateralization demonstrated preferential right hemisphere activation on Broca's and Wernicke's areas. Conclusions. This case shows the brain's potential for functional reorganization, especially if, according to Kennard's principle, the injury is produced at an early age

[Bickerstaff's encephalitis]. / Romboencefalitis de Bickerstaff.

INTRODUCTION: The clinical and radiological findings in a case of Bickerstaff encephalitis are described and the relationship with Miller Fisher and Guillain Barré syndromes are discussed. CLINICAL CASE: Subsequently to a respiratory infection,a 44-year-old male developed external ophthalmoplegia and cerebellar-like ataxia; his condition deteriorated and he suffered consciousness disturbances and absent tendon reflexes were noted. An MRI scan was performed showing a lesion affecting the brainstem. The cerebrospinal fluid (CSF) revealed albuminocytologic dissociation and the presence of oligoclonal bands. He received high doses of intravenous immunoglobulins and five months later, he had completely recovered. A follow up MRI scan demonstrated complete resolution of the lesion. CONCLUSIONS: The initial condition was diagnosed as Bickerstaff brainstem encephalitis (BBE) with overlapping peripheral nervous system semiology. The presence during the acute phase of oligoclonal bands in CSF, which decreased with the clinical improvement, supports the hypothesis than an autoimmune mechanism may function in its pathogenesis. Our case suggests that intravenous immunoglobulins therapy should be considered in patients with BBE.

Romboencefalitis de Bickerstaff / Bickerstaff's encephalitis

Introducción. Se describen los hallazgos clínicos y radiológicos de un caso de encefalitis de Bickerstaff (EB), discutiendo la posible relación de esta entidad con el síndrome de Guillain Barré y el síndrome de Miller Fisher. Caso clínico. Varón de 44 años de edad que 2 semanas después de una infección respiratoria desarrolla un cuadro de oftalmoplejía y ataxia de instauración subaguda. El curso es progresivo, con deterioro del nivel de conciencia y desaparición de los reflejos osteotendinosos. Una resonancia magnética craneal mostró una lesión protuberancial. El líquido cefalorraquídeo (LCR) reveló la existencia de una disociación albuminocitológica y la presencia de bandas oligoclonales. Se le administraron inmunoglobulinas endovenosas, produciéndose una paulatina mejoría. Al cabo de 5 meses el paciente alcanzó una recuperación completa y la resonancia de control demostró la total resolución de la lesión. Conclusiones. Los hallazgos clínicos y de neuroimagen condujeron al diagnóstico de EB, con semiología periférica añadida. La presencia durante la fase aguda de bandas oligoclonales en el LCR, que disminuyeron paralelamente a la mejoría clínica, apoya la hipótesis de un origen autoinmune para esta entidad, lo que, teniendo en cuenta la buena evolución de nuestro paciente, nos lleva a sugerir el tratamiento con inmunoglobulinas como opción terapéutica en la EB.

Introduction. The clinical and radiological findings in a case of Bickerstaff encephalitis are described and the relationship with Miller Fisher and Guillain Barré syndromes are discussed. Clinical case. Subsequently to a respiratory infection, a 44-year-old male developed external opthalmoplegia and cerebellar-like ataxia; his condition deteriorated and he suffered consciousness disturbances and absent tendon reflexes were noted. An MRI scan was performed showing a lesion affecting the brainstem. The cerebrospinal fluid (CSF) revealed albuminocytologic dissociation and the presence of oligoclonal bands. He received high doses of intravenous immunoglobulins and five months later, he had completely recovered. A follow up MRI scan demostrated complete resolution of the lesion. Conclusions. The initial condition was diagnosed as Bickerstaff brainstem encephalitis (BBE) with overlapping peripheral nervous system semiology. The presence during the acute phase of oligoclonal bands in CSF, which decreased with the clinical improvement, supports the hypothesis than an autoimmune mechanism may function in its pathogenesis. Our case suggests that intravenous immunoglobulins therapy should be considered in patients with BBE

Estenosis arterial intracraneal de origen embólico persistente en el tiempo / Long lasting intracranial artery stenosis of embolic origin

Introducción. Se conoce como evanescentes a aquellas estenosis arteria les intracraneales consecutivas a la recanalización parcial de una oclusión de origen embólico. En general se considera que en un corto período de tiempo dichas estenosis se resuelven debido a la completa recanalización del vaso, diferenciándolas así de las estenosis de origen arteriosclerótico. Caso clínico. Presentamos el caso de un paciente de 61 años que sufrió un ictus en el territorio de la arteria cerebral media izquierda provocado por una fibrilación auricular previamente desconocida. En la fase aguda se constató la existencia de un flujo estenótico a nivel de la arteria cerebral media izquierda. A pesar de tratarse de una oclusión de origen embólico, pasó 1 año antes de que la estenosis se resolviese. Conclusiones. Casos como el presente cuestionan los protocolos en uso, que tienden a clasificar como arterioscleróticas a aquellas estenosis persistentes durante más de 3 meses y hacen necesarios estudios que aclaren la historia natural de las oclusiones arteria les intracraneales

Introduction. The term evanescent, or vanishing, has been used to describe those intracranial stenoses that are consecutive to fue partial recanalization of an embolic occ1usion. In general terms it has been admitted that fuose stenoses quickly disappear in parallel to the complete recanalization of the artery. This behaviour allows their differentiation from fue atherosc1erotic stenoses. Case reporto We present here a 61-year-old male who suffered a middle cerebral artery territory stroke secondary to an atrial fibrillation. In the acute phase, a stenotic flow was found in fue proximal portion of his left middle cerebral artery. Although it was an embolic occ1usion, one year passed before the stenosis disappeared. Discussion. Findings like this contradict the protocols in use (which consider a stenosis as atherosc1erotic if it remains for more than three months), and stress the need for new studies which clarify the natural history of the intracranial arterial occlusions

Heraldic seizure.

BACKGROUND: The term heraldic seizures indicates epileptic seizures caused by cerebrovascular disease, believed to be triggered by silent ischemia and occurring before a stroke. This fact widens the spectrum of possible interrelations between epilepsy and cerebrovascular disease outside the well known context of post-stroke epilepsy. METHODS: This is a case report of a healthy 67-year-old male who had a new onset epileptic seizure prior to a lobar intracerebral hemorrhage (ICH). This man began to suffer myoclonic jerks in his left arm which progressed to a generalized tonic-clonic seizure. At the emergency area the physical and neurological examination were unremarkable and a CT scan was normal. The next day the patient developed left hemiparesis, hemianopsia and confusion and a new CT scan showed right parietal-occipital ICH. CONCLUSIONS: This case report exemplifies the concept of heraldic seizures, showing a patient who had a focal seizure preceding an intracerebral hemorrhage. Our etiologic diagnostic work led us to a diagnosis of probable amyloid angiopathy. We suggest that cerebral amyloid angiopathy (CAA) may be the underlying cause, since it may be the origin of both the late event (ICH) and the heralding seizures, resulting from concurrent ischemia.

Evolution of juvenile myoclonic epilepsy treated from the outset with sodium valproate.

Sodium valproate (VPA) is considered the first choice drug in juvenile myoclonic epilepsy (JME). We have analysed the long-term evolution of 22 patients treated from the outset with VPA. The following inclusion criteria were applied: (1) unequivocal diagnosis of JME; (2) treatment should be initiated with VPA monotherapy; and (3) follow-up for more than 5 years. Twenty-two patients (15 females, seven males) were studied and their EEG recordings were analysed. Their mean age was 28 years (range: 20-40 years) and their mean follow-up was 7.7 years (range: 5-17 years). Four of them suffered persistent seizures despite optimal VPA dosage and needed the addition of a second drug (lamotrigine in three cases, clobazam in one case). All of our patients who continued their treatment are seizure-free. VPA effectively controlled all seizures in 80% of patients. The discontinuation of drug therapy lead to a very high rate of relapses. With accurate diagnosis and appropriate therapy, seizures in JME can be effectively controlled. VPA is a very effective antiepileptic drug in controlling the seizures of JME, but many patients relapse after VPA discontinuation. Thus, JME may require lifelong therapy.

Early-onset Parkinson's disease associated with a new parkin mutation in a Spanish family.

Mutations in the PARKIN gene are associated with early-onset (juvenile) Parkinson's disease. We analyzed the coding sequence of this gene (exons 1-12) in patients from a family with three affected siblings, born to first-degree consanguineous parents, with an onset before 23 years and foot dystonia as the initial clinical symptom. The three patients were alive without cognitive impairment at ages of 70, 69, and 65 years, showing a marked response to levodopa treatment. A 2 bp-deletion at exon 11 (1276-1277 del GA) was found. The three patients were homozygous for this frameshift mutation, which would introduce a Stop at codon 394. This is a new PARKIN-mutation that would produce a truncated protein, lacking exon 12 and most the 11th. This region includes the C-terminal ring-finger domain of parkin, essential for its function as a ubiquitin-protein ligase. Compared to patients from other families with truncating mutations, our patients had an earlier onset. In addition, the three patients had dystonia at onset. In conclusion, we described a new PARKIN truncating mutation associated with an early onset parkinsonism, and the presence of foot dystonia as the initial symptom.

[Proliferative granulomatous arachnoiditis: an infrequent form of tuberculous myeloradioculopathy]. / Aracnoiditis granulomatosa proliferativa: una forma infrecuente de mielorradiculopatía tuberculosa.

Proliferative granulomatous arachnoiditis is an infrequent manifestation of central nervous system tuberculosis. The mortality rate is 30%, and there are functional sequels in almost all patients. We present the case of a 22-year-old woman, immunocompetent that suffered form tuberculous radiculo-myelopathy with fatal evolution, which allowed us to confront neuroimaging and neuropathological findings. Although serial MR imaging illustrated evolution of lesions, autopsy revealed more extensive lesions that those observed in neuroimaging studies. The characteristic pathological lesion was an intradural inflammatory exudate with a global medullar necrosis. Even through duration of medical treatment is still discussed, early diagnosis, complete antituberculous drug regimen and prolonged corticosteroid therapy are essential to avoid fatal evolution as occurred in this case.

Aracnoiditis granulomatosa proliferativa: una forma infrecuente de mielorradiculopatía tuberculosa / Proliferative granulomatous arachnoiditis: an infrequent form of tuberculous myeloradiculopathy

La aracnoiditis proliferativa granulomatosa es una manifestación infrecuente de una tuberculosis del sistema nervioso central. Tiene una mortalidad de un 30 por ciento y secuelas funcionales en la práctica totalidad de los pacientes. Presentamos el caso de una mujer de 22 años sin evidencia de inmunosupresión, que sufrió una mielorradiculopatía tuberculosa con evolución letal, lo que nos permitió comparar la neuroimagen con la clínica y los resultados finales neuropatológicos. Si bien la clínica se correlacionó con los hallazgos iconográficos, el grado de afectación medular fue más extenso en la autopsia de lo que presagiaban inicialmente las imágenes de resonancia magnética. La lesión anatomopatológica característica fue la presencia de un exudado inflamatorio intradural con un infarto medular global. Aunque aún se discute la duración del tratamiento médico, el diagnóstico temprano y un tratamiento polifarmacológico completo, junto con corticoterapia prolongada, son esenciales para el buen pronóstico del proceso, como se infiere en nuestro caso. (AU)

[Drop attacks in patients with partial epilepsy]. / Crisis de caída brusca en pacientes con epilepsia focal.

BACKGROUND: It is known the presence of sudden falls or epileptic drop-attacks (DA) in patients with partial epilepsy. OBJECTIVE: To review the clinical and electroencephalographic manifestations in our patients with partial epilepsy and DA. PATIENTS AND METHODS: Fifteen patients (9 males/6 females) over 18 years with partial epilepsy and epileptic falls were selected. RESULTS: The mean age was 39 years (24-56 years). The mean age at seizure onset were 13 years (8 months-49 years) for partial seizures and 26 years (2-54 years) for DA. Secondary generalized or not, all patients had complex partial seizures, associated with simple partial seizures in five (34%). All were treated with politherapy, but a good control was not achieved. EEG recordings showed frontal focus in 7, temporal focus in 8, secondary bilateral synchrony in 9, and increase of electroencephalographic abnormalities during sleep in 9. Cognitive and emotional disorders were observed in 8 and 6 patients, respectively. Nine patients suffered from status epilepticus. The causal lesions were connatal encephalopathy in 8 and criptogenic in the other 7. The main consequence of DA was recurrent craneal trauma in 9 patients. CONCLUSIONS: The presence of DA is considered an ominous change in the evolution of a partial epilepsy. It's associated with mental deterioration and emotional disturbances and with drug resistance.

Crisis de caída brusca en pacientes con epilepsia focal / Drop-attacks in patients with partial epilepsy

Fundamento: Se conoce la existencia de caídas bruscas o drop-attacks epilépticos (DA) en pacientes con epilepsia focal. Objetivo: Determinar cuáles son las características clínicas y EEG entre nuestros pacientes con epilepsia focal y este tipo de crisis. Pacientes y métodos: Se seleccionaron 15 pacientes (9 varones y 6 mujeres) mayores de 18 años con epilepsia focal de inicio y crisis de caída brusca (DA) durante la evolución de su enfermedad. Resultados: La edad de la muestra fue de 39 años (24-56 años). Las edades medias de inicio fueron de 13 años (8 meses-49 años) para las crisis parciales, y de 26 años (2-54 años) para los DA. Con o sin generalización secundaria, las crisis fueron parciales complejas en todos los enfermos, asociándose crisis parciales simples en cinco (34 por ciento). Todos requirieron politerapia, aunque sin lograr un buen control. Los trazados EEG demostraron un foco frontal en 7 enfermos, un foco temporal en ocho, bisincronía secundaria en nueve y activación durante el sueño en nueve. Se observaron trastornos intelectuales o emocionales en 8 y 6 enfermos, respectivamente. Nueve pacientes padecieron estado de mal epiléptico. La causa de la epilepsia focal fue una encefalopatía connata en 8 enfermos y criptogénica en los 7 restantes. La consecuencia más grave de los DA fue el traumatismo craneal recurrente en 9 pacientes. Conclusiones: La aparición de DA es un signo de mal pronóstico en la evolución de una epilepsia focal. Se asocia a alteraciones intelectuales y trastornos emocionales, así como a farmacorresistencia. (AU)