Microhemorragias cerebrales. Utilidad de las secuencias de susceptibilidad magnética (SWI) / Cerebral microbleeds. Utility of SWI sequences

Objetivo: Definir el concepto de microhemorragia cerebral y revisar las secuencias de resonancia magnética (RM) utilizadas para su valoración. Revisar cuáles son las patologías que presentan microhemorragias y que pueden beneficiarse del uso de secuencias de susceptibilidad magnética (SWI). Conclusión: Las SWI son útiles en la detección y caracterización de microhemorragias, venas y otras fuentes de susceptibilidad. La secuencia SWI mejora la sensibilidad diagnóstica con respecto a las secuencias convencionales potenciadas en T2* (eco de gradiente T2* [2D-GRE]). Las microhemorragias cerebrales pueden asociarse a diversas enfermedades, aparecer en contextos clínicos menos conocidos o servir como biomarcador tumoral en gliomas (ITTS) y como marcador de actividad inflamatoria en las placas de esclerosis múltiple (EM).(AU)

Objectives: Define the concept of cerebral microbleeds (CMB) and describe the most useful MRI sequences for detecting this finding. Review the entities that most frequently present with CMB and that may benefit from the use of susceptibility-weighted imaging (SWI) sequences. Conclusions: SWI is a useful MRI sequence for the detection and characterization of microhemorrhages, venous structures and other sources of susceptibility in imaging. SWI is particularly sensitive to local magnetic field inhomogeneities generated by certain substances and is superior to T2* GRE sequences for this assessment. CMB may be seen in different neurologic conditions, in certain infrequent clinical contexts and have a key role as a biomarker status in gliomas (ITTS) and as a marker of inflammatory activity in multiple sclerosis.(AU)

Cerebral microbleeds. Utility of SWI sequences.

OBJECTIVES: Define the concept of cerebral microbleeds (CMBs) and describe the most useful MRI sequences for detecting this finding. Review the entities that most frequently present with CMBs and that may benefit from the use of susceptibility-weighted imaging (SWI) sequences. CONCLUSIONS: SWI is a useful MRI sequence for the detection and characterization of microhemorrhages, venous structures and other sources of susceptibility in imaging. SWI is particularly sensitive to local magnetic field inhomogeneities generated by certain substances and is superior to T2* GRE sequences for this assessment. CMBs may be seen in different neurologic conditions, in certain infrequent clinical contexts and have a key role as a biomarker status in gliomas (ITTS) and as a marker of inflammatory activity in multiple sclerosis.

Analysis of deep brain stimulation of the subthalamic nucleus (STN-DBS) in patients with monogenic PRKN and LRRK2 forms of Parkinson's disease.

INTRODUCTION: Deep brain stimulation of the subthalamic nucleus (STN-DBS) is the most common surgical treatment for Parkinson's disease (PD). Patient selection and genetic background can modify the response to this treatment. The objective of this study was to compare both clinical and pharmacologic response of STN-DBS between patients with monogenic forms of PD and non-mutation carriers with idiopathic PD. METHODS: A retrospective analysis among 23 carriers of genetic mutations (8 PRKN and 15 LRRK2) and 74 patients with idiopathic PD was performed. The study included comparisons of Unified Parkinson's Disease Rating Scale (UPDRS) II and III scores, Schwab and England (S&E) scale values, Hoehn & Yahr (H&Y) stage scores, and equivalent doses of levodopa before and after the surgery (at 6 and 12 months) between both groups. RESULTS: The mean age at the time in which STN-DBS was performed was 59.5 ± 8.6. Linear mixed models showed the absence of statistically significant differences between mutation and non-mutation carriers regarding levodopa doses (p = 0.576), UPDRS II (p = 0.956) and III (p = 0.512) scores, and S&E scale scores (0.758). The only difference between the two groups was observed with respect to H&Y stage in OFF medication/ON stimulation status being lower in genetic PD at 6 months after surgery (p = 0.030). CONCLUSION: Clinical and pharmacological benefit of bilateral STN-DBS is similar in PRKN and LRRK2 mutation carriers and patients with idiopathic PD.

Edema cerebral idiopático de inicio tardío asociado a estimulación cerebral profunda / Idiopathic delayed-onset edema associated with deep brain stimulation

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[Is there a relationship between white matter lesions associated with migraine and patent foramen ovale? Analysis of a series of patients with chronic migraine]. / ¿Existe relación entre las lesiones de la sustancia blanca asociadas a migraña y el foramen oval permeable? Análisis de una serie de pacientes con migraña crónica.

INTRODUCTION: White matter lesions are more prevalent in migraine patients than in the general population, especially those with a high frequency of attacks. A patent foramen ovale has been described as a possible link between migraine and white matter lesions. AIM: To determine the existence of a possible relationship between a patent foramen ovale and white matter lesions in a series of patients with chronic migraine. PATIENTS AND METHODS: Observational, single-centre, case-control study. Eighty-nine women with chronic migraine were selected. The persistence and characteristics of the patent foramen ovale were assessed by means of a transcranial Doppler study. The patent foramen ovale was classified as small, moderate or massive. Those detected at rest were considered permanent, and the others were classified as latent. The MRI protocol included T1-enhanced sagittal images, FLAIR-T2-enhanced axial images, and a proton density and T2-FSE combined sequence. The white matter lesions were classified as deep, periventricular or both. RESULTS: The prevalence of patent foramen ovale (53.6% versus 48.5%; p = 0.80) and the proportion of massive, permanent patent foramen ovale were similar among patients with and without white matter lesions. Neither was there any difference in the prevalence (55.6% versus 52.6%; p = 1.00) or the characteristics of the patent foramen ovale as a function of the distribution of white matter lesions. CONCLUSION: The results do not suggest that a patent foramen ovale intervenes in the pathophysiology of the white matter lesions observed in patients with migraine.

TITLE: ¿Existe relación entre las lesiones de la sustancia blanca asociadas a migraña y el foramen oval permeable? Análisis de una serie de pacientes con migraña crónica.Introducción. Las lesiones de la sustancia blanca son más prevalentes en los pacientes migrañosos que en la población general, especialmente en los que tienen una alta frecuencia de ataques. El foramen oval permeable se ha descrito como posible nexo de unión entre la migraña y las lesiones de la sustancia blanca. Objetivo. Determinar la existencia de una posible relación entre el foramen oval permeable y las lesiones de la sustancia blanca en una serie de pacientes con migraña crónica. Pacientes y métodos. Estudio observacional, unicéntrico, de casos y controles. Se seleccionó a 89 mujeres con migraña crónica. La persistencia y las características del foramen oval permeable se evaluaron mediante un estudio Doppler transcraneal. El foramen oval permeable se clasificó como pequeño, moderado o masivo. Se consideraron permanentes los detectados en reposo, y latentes, el resto. El protocolo de resonancia magnética incluyó imágenes sagitales potenciadas en T1, axiales potenciadas en FLAIR-T2 y secuencia combinada de densidad protónica y T2-FSE. Las lesiones de la sustancia blanca se clasificaron como profundas, periventriculares o ambas. Resultados. La prevalencia de foramen oval permeable (53,6% frente a 48,5%; p = 0,80) y la proporción de foramen oval permeable masivo y permanente fueron similares entre los pacientes con y sin lesiones de la sustancia blanca. Tampoco se encontraron diferencias en la prevalencia (55,6% frente a 52,6%; p = 1,00) o las características del foramen oval permeable en función de la distribución de las lesiones de la sustancia blanca. Conclusión. Los resultados no sugieren la intervención del foramen oval permeable en la fisiopatología de las lesiones de la sustancia blanca observadas en pacientes migrañosos.

[Appraisal of cerebral atrophy in multiple sclerosis by means of the corpus callosum index. Reply]. / Valoracion de la atrofia cerebral en la esclerosis multiple mediante el indice de cuerpo calloso. Replica.

TITLE: Valoracion de la atrofia cerebral en la esclerosis multiple mediante el indice de cuerpo calloso. Replica.

[Appraisal of cerebral atrophy in multiple sclerosis by means of the corpus callosum index]. / Valoracion de la atrofia cerebral en la esclerosis multiple mediante el indice de cuerpo calloso.

INTRODUCTION: The course of multiple sclerosis is characterised by the development of cerebral atrophy. It is of interest to monitor it in order to evaluate the treatment response, and the preferred technique consists in performing brain volume analyses, which are currently restricted to the field of research. AIM: To analyse the corpus callosum index (CCI) as a possible alternative to the methods based on brain segmentation. SUBJECTS AND METHODS: Our sample was made up of 109 patients with recently diagnosed demyelinating diseases (90 relapsing-remitting multiple sclerosis, 7 primary progressive forms and 12 isolated demyelinating syndromes), and the CCI was calculated in their first magnetic resonance brain scan, together with 101 healthy controls. The sequences of the patients were submitted to a volumetric analysis using the software package MSmetrix. RESULTS: The mean value of the CCI was 0.377 in patients and 0.411 in the controls, and the difference was statistically significant (p < 0.001). The CCI also showed a statistically significant correlation with the brain volume (p < 0.001; r = 0.444) and with the lesional volume in the FLAIR sequence (p < 0.001; r = -0.521), while no association was observed with the volume of grey matter (p = 0.058). CONCLUSIONS: The CCI is related to the overall brain volume obtained by volumetric techniques and may reflect the presence of atrophy in the initial stages of demyelinating diseases, which makes it a fast and easy to calculate alternative.

TITLE: Valoracion de la atrofia cerebral en la esclerosis multiple mediante el indice de cuerpo calloso.Introduccion. La esclerosis multiple se caracteriza en su evolucion por el desarrollo de atrofia cerebral. Su monitorizacion resulta de interes para evaluar la respuesta al tratamiento, y son de eleccion los analisis volumetricos cerebrales, actualmente confinados al ambito de la investigacion. Objetivo. Analizar el indice de cuerpo calloso (ICC) como una posible alternativa a los metodos basados en la segmentacion cerebral. Sujetos y metodos. Se reune a 109 pacientes con enfermedades desmielinizantes de reciente diagnostico (90 con esclerosis multiple remitente recurrente, 7 con formas primarias progresivas y 12 con sindrome desmielinizante aislado) y se calcula el ICC en su primer estudio de resonancia magnetica cerebral, asi como en 101 controles sanos. Las secuencias de los pacientes se someten a analisis volumetrico mediante el programa MSmetrix. Resultados. El valor medio del ICC es de 0,377 en los pacientes y 0,411 en los controles, y la diferencia es estadisticamente significativa (p < 0,001). El ICC muestra una correlacion estadisticamente significativa con el volumen encefalico (p < 0,001; r = 0,444) y con el volumen lesional en secuencia FLAIR (p < 0,001; r = ­0,521), mientras que no se demuestra asociacion con el volumen de la sustancia gris (p = 0,058). Conclusiones. El ICC se relaciona con el volumen encefalico global obtenido mediante tecnicas volumetricas y puede reflejar la presencia de atrofia ya en los estadios iniciales de las enfermedades desmielinizantes, por lo que se presenta como una alternativa de rapido y sencillo calculo.

Técnicas asistidas para el tratamiento endovascular de aneurismas cerebrales complejos o atípicos / Assisted techniques for the endovascular treatment of complex or atypical cerebral aneurysms

A lo largo de los últimos 10 años, el abordaje endovascular de los aneurismas cerebrales ha pasado de ser una alternativa a la cirugía a convertirse en la terapia de elección en la inmensa mayoría de los casos. El constante desarrollo de técnicas asistidas y de nuevos materiales de embolización ha multiplicado sus posibilidades terapéuticas, de modo que en la actualidad es posible tratar con eficacia y seguridad aneurismas que hace tan solo unos años hubiesen sido considerados quirúrgicos. Este continuo avance tecnológico exige a los profesionales implicados en el tratamiento de pacientes con aneurismas cerebrales un alto grado de especialización y una actualización formativa permanente. En el presente trabajo repasamos algunas de las técnicas asistidas más empleadas en la actualidad para el tratamiento endovascular de los aneurismas cerebrales, mostramos sus principales indicaciones, las mejoras que suponen respecto a las técnicas de embolización convencional y sus posibles limitaciones(AU)

In the last ten years, the endovascular approach to the management of cerebral aneurysms has gone from being an alternative to surgery to being the first-choice technique in the vast majority of cases. The continuous development of new assisted techniques and of new materials for embolization have multiplied its therapeutic possibilities, so that safe and efficacious endovascular treatment is now possible for aneurysms that would have required surgery only a few years ago. These continuous technological advances require the professionals that treat patients with cerebral aneurysms to achieve a high degree of specialization and to keep up to date through continuous training. In this article, we review some of the most widely used assisted techniques in the endovascular treatment of cerebral aneurysms, discussing their main indications, their advantages over conventional embolization techniques, and their possible limitations(AU)

[Assisted techniques for the endovascular treatment of complex or atypical cerebral aneurysms]. / Técnicas asistidas para el tratamiento endovascular de aneurismas cerebrales complejos o atípicos.

In the last ten years, the endovascular approach to the management of cerebral aneurysms has gone from being an alternative to surgery to being the first-choice technique in the vast majority of cases. The continuous development of new assisted techniques and of new materials for embolization have multiplied its therapeutic possibilities, so that safe and efficacious endovascular treatment is now possible for aneurysms that would have required surgery only a few years ago. These continuous technological advances require the professionals that treat patients with cerebral aneurysms to achieve a high degree of specialization and to keep up to date through continuous training. In this article, we review some of the most widely used assisted techniques in the endovascular treatment of cerebral aneurysms, discussing their main indications, their advantages over conventional embolization techniques, and their possible limitations.

Metástasis orbitarias en carcinoma colorrectal: a propósito de un caso / Orbital metastases in colorectal cancer: a case report

Caso clínico: Varón, 32 años, con neoplasia de colon en estadio IV, resistente a tratamiento quimioterápico. Es referido a nuestro servicio por edema palpebral, quemosis conjuntival, exoftalmos severo no reductible y ptosis completa en el ojo izquierdo, así como limitación de la motilidad ocular en todas las posiciones de la mirada, de predominio en mirada lateral y supraversión. En RMN orbitaria observamos dos lesiones nodulares en la órbita izquierda, con afectación del complejo músculo recto superior-elevador del párpado y músculo recto externo, sugestivas de metástasis. Debido al mal estado general del paciente, que no permite radioterapia, se inician bolos de corticoides intravenosos, sin respuesta, falleciendo el paciente. Discusión: Las metástasis orbitarias suelen proceder de tumores de mama y pulmón, siendo las secundarias a carcinoma de colon muy infrecuentes. El tratamiento es paliativo, basado en corticoides intravenosos, y sobre todo, radioterapia, y, tan solo en casos de supervivencia más prolongada, cirugía(AU)

Clinical case: A 32-year-old male, with colon cancer stage IV, resistant to chemotherapy, was referred to our department due to palpebral oedema, conjunctival chemosis, severe exophthalmos, complete ptosis in left eye, and limitation in eye movements, mainly in abduction and supraversion. In the orbital MR scan we observed two nodular lesions in the left orbital, with involvement of the superior rectus-elevator muscle of upper eyelid complex and external rectus muscle, suggestive of metastases. Due to the patient generally feeling unwell, radiotherapy was not considered, and an intravenous bolus of corticoids was given, without response, resulting in the death of the patient. Discussion: Orbital metastases usually originate from breast and lung cancer, with those secondary to colon cancer being much less frequent. The treatment is palliative, based on intravenous corticoids, and, above all, radiotherapy, and, only in cases with a long-term survival, surgery(AU)

[Orbital metastases in colorectal cancer: a case report]. / Metástasis orbitarias en carcinoma colorrectal: a propósito de un caso.

CLINICAL CASE: A 32-year-old male, with colon cancer stage IV, resistant to chemotherapy, was referred to our department due to palpebral oedema, conjunctival chemosis, severe exophthalmos, complete ptosis in left eye, and limitation in eye movements, mainly in abduction and supraversion. In the orbital MR scan we observed two nodular lesions in the left orbital, with involvement of the superior rectus-elevator muscle of upper eyelid complex and external rectus muscle, suggestive of metastases. Due to the patient generally feeling unwell, radiotherapy was not considered, and an intravenous bolus of corticoids was given, without response, resulting in the death of the patient. DISCUSSION: Orbital metastases usually originate from breast and lung cancer, with those secondary to colon cancer being much less frequent. The treatment is palliative, based on intravenous corticoids, and, above all, radiotherapy, and, only in cases with a long-term survival, surgery.

Hendiduras miocárdicas: a propósito de 4 casos / Myocardial clefts: a report of four cases

Las técnicas de resonancia magnética cardiaca (RMC) actuales permiten el reconocimiento de múltiples variantes anatómicas cardiacas, como las hendiduras miocárdicas. Presentamos cuatro casos clínicos de hendiduras miocárdicas. Se trata de anomalías poco frecuentes y aparecen tanto en individuos sanos como en pacientes con diferentes afecciones cardiacas. Su etiopatogenia es desconocida, aunque se barajan varias hipótesis. Si bien la mayoría de las veces se trata de un hallazgo casual, es importante conocer su existencia porque pueden ser responsables de embolismos sistémicos (AU)

Current cardiac magnetic resonance imaging (cMRI) techniques enable many heart defects, like myocardial clefts, to be detected. We present four clinical cases of myocardial clefts. Myocardial clefts are uncommon abnormalities that are found in both healthy individuals and patients with different heart problems. The etiopathogenesis is unknown, although several hypotheses have been proposed. Although myocardial clefts are usually discovered incidentally, it is important to be aware of their existence because they can cause systemic embolisms (AU)

[Myocardial clefts: a report of four cases]. / Hendiduras miocárdicas: a propósito de 4 casos.

Current cardiac magnetic resonance imaging (cMRI) techniques enable many heart defects, like myocardial clefts, to be detected. We present four clinical cases of myocardial clefts. Myocardial clefts are uncommon abnormalities that are found in both healthy individuals and patients with different heart problems. The etiopathogenesis is unknown, although several hypotheses have been proposed. Although myocardial clefts are usually discovered incidentally, it is important to be aware of their existence because they can cause systemic embolisms.

[Diagnosis of amyotrophic lateral sclerosis: advances in magnetic resonance imaging]. / Diagnóstico de la esclerosis lateral amiotrófica: avances en RM.

Amyotrophic lateral sclerosis is a chronic progressive neurodegenerative disease of unknown etiology. It selectively affects both upper and lower motor neurons. Nowadays, amyotrophic lateral sclerosis is diagnosed on the basis of clinical and electromyographic findings and by ruling out other diseases with similar symptoms. To date, there are no specific tests or biologic markers to confirm the diagnosis. This article discusses new MRI techniques like magnetization transfer imaging, MR spectroscopy, functional MRI, diffusion tensor imaging, and volumetric techniques that can contribute to early confirmation of the diagnosis and to the follow-up of this disease. We review the usefulness of each of these techniques and discuss their possible applications in clinical practice.

Diagnóstico de la esclerosis lateral amiotrófica: avances en RM / Diagnosis of amyotrophic lateral sclerosis: advances in magnetic resonance imaging

La esclerosis lateral amiotrófica es una enfermedad neurodegenerativa progresiva crónica de etiología desconocida que afecta de forma selectiva a las motoneuronas tanto superior como inferior. Hoy en día, su diagnóstico se basa en hallazgos clínicos, electromiográficos y la exclusión de otras enfermedades con síntomas similares, no existiendo pruebas específicas ni marcadores biológicos que confirmen su diagnóstico. En este artículo exponemos las nuevas técnicas de RM como la transferencia de magnetización, la espectroscopia por RM, la RM funcional, el tensor difusor o las técnicas volumétricas, que pueden contribuir tanto a la confirmación diagnóstica precoz como al seguimiento de esta enfermedad. Revisamos la utilidad de dichas técnicas según la bibliografía y discutimos sus posibles aplicaciones en la práctica clínica (AU)

Amyotrophic lateral sclerosis is a chronic progressive neurodegenerative disease of unknown etiology. It selectively affects both upper and lower motor neurons. Nowadays, amyotrophic lateral sclerosis is diagnosed on the basis of clinical and electromyographic findings and by ruling out other diseases with similar symptoms. To date, there are no specific tests or biologic markers to confirm the diagnosis. This article discusses new MRI techniques like magnetization transfer imaging, MR spectroscopy, functional MRI, diffusion tensor imaging, and volumetric techniques that can contribute to early confirmation of the diagnosis and to the follow-up of this disease. We review the usefulness of each of these techniques and discuss their possible applications in clinical practice (AU)

[Review of the target for the deep brain stimulation of chronic cluster headache]. / Revision de la diana para la estimulacion cerebral profunda de la cefalea en racimos cronica.

Cluster headache is included in the group of trigeminal autonomic cephalalgias. Although the pathophysiology of cluster headache has not yet been sufficiently established, the theory of a central origin tells us that this headache is produced by hypothalamic dysfunction. More than 50 patients have been treated with deep brain stimulation of the posterior nucleus of the hypothalamus from 2001. The results show clinical improvement in more than 60% of the cases, opening a promising issue for the treatment of the cluster headache persistent after medical treatment. The surgical target that have been used until now is based on the origin of the cluster headache in the hypothalamic dysfunction. Nevertheless, It has still some open questions as the lack of proving the posterior nucleus of the hypothalamus is the real origin of the cluster headache, the lack of consensus about the anatomy of the surgical target and the variability of the structures stimulated with the surgery. The aim of this article is a review of the target used and propose another surgical target based on physiopathological concepts to explain the improvement with the deep brain stimulation in these patients.

Revisión de la diana para la estimulación cerebral profunda de la cefalea en racimos crónica / Review of the target for the deep brain stimulation of chronic cluster headache

La cefalea en racimos pertenece al grupo de las cefalalgias trigeminales autosómicas. Aunque su fisiopatología no está suficientemente clara, se cree que una disfunción hipotalámica es la causante de este tipo de cefaleas. Desde 001 se ha tratado a más de 50 pacientes con estimulación cerebral en el hipotálamo posterior. Los resultados obtenidos hasta la fecha son de mejoría en más del 60% de los casos y se ha abierto un camino prometedor para el tratamiento de la cefalea en racimos crónica rebelde a tratamiento farmacológico. La diana quirúrgica utilizada hasta ahora se basa en la disfunción del hipotálamo posteroinferior como origen de la cefalea en racimos; sin embargo, hay varias cuestiones no resueltas como son, entre otras, la falta de demostración de que el hipotálamo posteroinferior es el generador de las cefaleas, no existe un consenso sobre la anatomía de la diana quirúrgica y la variabilidad de estructuras anatómicas neuroestimuladas en estos pacientes. El objetivo de este artículo es hacer una revisión crítica de la diana utilizada en esta patología y proponer, sobre la base de conceptos fisiopatológicos, otra diana que explique el efecto beneficioso de la estimulación cerebral profunda en estos pacientes (AU)

Cluster headache is included in the group of trigeminal autonomic cephalalgias. Although the pathophysiology of cluster headache has not yet been sufficiently established, the theory of a central origin tells us that this headache is produced by hypothalamic dysfunction. More than 50 patients have been treated with deep brain stimulation of the posterior nucleus of the hypothalamus from 2001. The results show clinical improvement in more than 60% of the cases, opening a promising issue for the treatment of the cluster headache persistent after medical treatment. The surgical target that have been used until now is based on the origin of the cluster headache in the hypothalamic dysfunction. Nevertheless, It has still some open questions as the lack of proving the posterior nucleus of the hypothalamus is the real origin of the cluster headache, the lack of consensus about the anatomy of the surgical target and the variability of the structures stimulated with the surgery. The aim of this article is a review of the target used and propose another surgical target based on physiopathological concepts to explain the improvement with the deep brain stimulation in these patients (AU)

Agenesia unilateral de la arteria carótida interna / Unilateral agenesis of internal carotid artery

Introducción. La agenesia unilateral de arteria carótida interna es una anomalía del desarrollo extremadamenterara (incidencia: 0,01%). Su diagnóstico generalmente es incidental durante la realización de una prueba radiológica.La mayoría de los casos descritos son sujetos adultos con síntomas de patología cerebrovascular. En este artículorevisamos la anatomía, el diagnóstico diferencial y las implicaciones clínicas de esta malformación, entre las que destacauna mayor prevalencia de aneurismas cerebrales. Casos clínicos. Presentamos dos casos de agenesia de arteria carótidainterna, uno en el lado derecho en una niña de 4 años, y otro en el lado izquierdo en una mujer de 58 años. Conclusiones.La tomografía computarizada de alta resolución para demostrar la ausencia de canal carotídeo en la base delcráneo y la angiorresonancia magnética son las pruebas radiológicas utilizadas para confirmar su diagnóstico. Aunquela mayoría de los casos permanecen asintomáticos, su detección es fundamental cuando se plantea una cirugía de la carótida,ya que la vascularización de ambos hemisferios cerebrales puede depender de la carótida ateromatosa que vamosa tratar(AU)

Introduction. Unilateral agenesis of the internal carotid artery is an extremely rare developmental anomaly(incidence: 0.01%). Diagnosis is often incidental in a radiological examination. Most of the cases described are in olderpatients with symptoms of cerebrovascular disorders. We review the anatomy, differential diagnosis and clinical implicationsof these malformations as the high prevalence of cerebral aneurysms. Case reports. We report the clinical and imagingfindings of two cases of agenesis of the internal carotid artery, one on the right in a 4 years old female, and another onthe left, in a 58 years old woman. Conclusions. High resolution CT to demonstrate the absence of the carotid canal atthe skull base and angio-MR are the radiological proves used to confirm the diagnosis. Although many of these casesremain asymptomatic, their recognition has important implications, specially when we are planning carotid endarterectomy,because both cerebral hemispheres may be dependent upon the atheromatous carotid(AU)

Leucoencefalopatía con sustancia blanca evanescente: a propósito de un caso / Leukoencephalopathy with vanishing white matter: a case report

Introducción. La leucoencefalopatía con sustancia blancaevanescente es una enfermedad hereditaria de transmisión autosómicarecesiva individualizada en 1997. Más tarde se identificaronlas anomalías genéticas responsables: diferentes mutaciones encualquiera de los cinco genes que codifican las cinco subunidadesdel factor de iniciación de la traducción eIF2B. Desde entonces, elespectro clínico de esta entidad se ha mostrado mucho más amplioy su frecuencia mucho mayor de lo imaginado inicialmente. Presentamosun caso de la forma clínica clásica, el primero segúnnuestro conocimiento publicado hasta la fecha en España. Casoclínico. Niña de 5 años que desde hace dos presenta una inestabilidadde la marcha recientemente agravada tras un traumatismo craneoencefálicoleve. En la exploración presenta una ataxia cerebelosaglobal y una espasticidad generalizada. La resonancia magnética(RM) muestra una afectación difusa y simétrica de la sustanciablanca cerebral con la presencia de cavidades en las que la intensidad de la señal, así como el espectro protónico, son similares alos del líquido cefalorraquídeo. El estudio genético revela una mutacióndel gen que codifica eIF2B-épsilon. Conclusiones. Una RMsugerente, aun en una presentación atípica, indicaría descartaruna mutación de los genes que codifican eIF2B. Esto posibilitaríael diagnóstico precoz de esta enfermedad, probablemente más prevalentede lo imaginado, lo que permitiría el consejo genético ycontribuiría a establecer un correlato genotipo-fenotipo que permitiríaademás la estimación pronóstica

Introduction. Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease thatwas first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these beingdifferent mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B. Since then,the clinical spectrum of this condition has proved to be much broader and far more frequent than was initially believed. Wereport on a case of the classical clinical form, which is to our knowledge the first to be published in Spain to date. Case report.A 5-year-old female who presented gait instability that recently got worse following a mild traumatic head injury. Theexamination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuseand symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and theproton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes foreIF2B-epsilon. Conclusions. A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutationof the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probablymore prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish agenotype-phenotype correlate that would also make it possible to offer an estimated prognosis