Síndrome afectivo-cognitivo cerebeloso secundario a tumor cerebeloso / Cerebellar cognitive affective syndrome secondary to a cerebellar tumour

El síndrome afectivo-cognitivo cerebeloso se caracteriza por alteración en funciones ejecutivas, problemas de organización y memoria visuoespacial, alteración en la producción del lenguaje y trastorno de conducta. Niño de 11 años con dificultades de aprendizaje, trastorno de conducta y problemas de interacción social. En la exploración física destaca conducta inmadura, escaso contacto visual, dificultad para mantener la atención, lenguaje expresivo pobre y disabilidad motriz global con dispraxia para las variantes de la marcha, sin signos cerebelosos definidos. Valoración neuropsicológica: cociente intelectual 84 con datos compatibles con síndrome afectivo-cognitivocerebeloso. RM cerebral: proceso expansivo en vermis cerebeloso inferior, que permanece estable tras 5 años de seguimiento. El cerebelo participa como centro coordinador de funciones cognitivas y emocionales. Ante un niño con un trastorno de aprendizaje con componente conductual y afectivo asociado debe incluirse la patología cerebelosa en el diagnóstico diferencial y descartar una lesión a este nivel

Cerebellar cognitive affective syndrome is characterized by disturbances of executive function, impaired spatial cognition, linguistic difficulties, and personality change. The case of an 11 year old boy is presented, with behavior problems, learning difficulties and social interaction problems. In the physical examination he had poor visual contact, immature behavior, reduced expressive language and global motor disability with gait dyspraxia, with no defined cerebellar motor signs. In the neuropsychological evaluation he has a full scale overall intellectual quotient of 84, with signs of cerebellar cognitive affective syndrome. A tumour affecting inferior cerebellar vermis was observed in the magnetic resonance imaging, which had not significantly grown during 5 years of follow up. The cerebellum participates in controlling cognitive and affective functions. Cerebellar pathology must be considered in the differential diagnosis of children with cognitive or learning disorder with associated behavioral and emotional components

[Cerebellar cognitive affective syndrome secondary to a cerebellar tumour]. / Síndrome afectivo-cognitivo cerebeloso secundario a tumor cerebeloso.

Cerebellar cognitive affective syndrome is characterized by disturbances of executive function, impaired spatial cognition, linguistic difficulties, and personality change. The case of an 11 year old boy is presented, with behavior problems, learning difficulties and social interaction problems. In the physical examination he had poor visual contact, immature behavior, reduced expressive language and global motor disability with gait dyspraxia, with no defined cerebellar motor signs. In the neuropsychological evaluation he has a full scale overall intellectual quotient of 84, with signs of cerebellar cognitive affective syndrome. A tumour affecting inferior cerebellar vermis was observed in the magnetic resonance imaging, which had not significantly grown during 5 years of follow up. The cerebellum participates in controlling cognitive and affective functions. Cerebellar pathology must be considered in the differential diagnosis of children with cognitive or learning disorder with associated behavioral and emotional components.

Hallazgos neurorradiológicos en una serie de pacientes con mucopolisacaridosis / Neuroimaging findings in patient series with mucopolysaccharidosis

Introduction: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously reported. Material and methods: We retrospectively analysed the medical records of 19 patients who had been diagnosed with MPS between 1992 and 2010: 7 had type I (5 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 10 had type II or Hunter syndrome (4 with the severe form and 6 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome. We assessed the brain neuroimaging studies: computed axial tomography (CAT) in 5 patients, and magnetic resonance imaging (MRI) in 15. Results: We observed a broad spectrum of neuroimaging anomalies. In CAT: mega cisterna magna (3/5, 60%). In brain MRI: dilated Virchow-Robin perivascular spaces (11/15, 73%), white matter abnormalities (11/15, 73%), and ventriculomegaly (5/15, 33%). Conclusions: Abnormal findings in neuroimaging studies are frequent in MPS (dilated Virchow-Robin perivascular spaces, white matter abnormalities and ventriculomegaly). Thus, given these abnormalities we should be aware of this possible diagnosis, particularly when typical signs and symptoms are present. However, we did not find a correlation between these findings and either any specific type of MPS or clinical severity (AU)

Introducción: Las mucopolisacaridosis (MPS) son un grupo de enfermedades hereditarias de depósito lisosomal. El objetivo de esta revisión es describir las alteraciones neurorradiológicas en los niños evaluados en nuestro hospital con este diagnóstico, buscar la posible correlación de estas alteraciones con el tipo de MPS y con la gravedad clínica, y comparar nuestros hallazgos con lo descrito en la literatura. Material y métodos:Revisamos retrospectivamente las historias clínicas de 19 pacientes diagnosticados de MPS en el periodo 1992-2010: 7 tipo I (5 con síndrome de Hurler y 2 con Hurler-Scheie), 10 tipo II o síndme de Hunter (4 con la forma grave y 6 con la moderada), 1 tipo III o síndrome de Sanfilippo y 1 tipo VI o síndrome de Maroteaux-Lamy. Se analizaron las pruebas de neuroimagen: tomografía computarizada (TC) en 5 pacientes y resonancia magnética craneal (RMC) en 15. Resultados: Encontramos un amplio espectro de alteraciones radiológicas. En la TC destaca la megacisterna magna (3/5, 60%); en la RMC el aumento de los espacios perivasculares (11/15, 73%), la alteración parcheada de la sustancia blanca (SB) (11/15, 73%) y la ventriculomegalia (5/15, 33%).Conclusiones: Algunas anomalías neurorradiológicas son frecuentes en las MPS (aumento de los espacios perivasculares, alteraciones de la SB, ventriculomegalia), por lo que ante estos hallazgos debemos investigar esta posibilidad diagnóstica, especialmente en pacientes con clínica compatible. No hemos hallado datos específicos de cada tipo de MPS, ni relación de estas alteraciones radiológicas con la gravedad de la forma clínica (AU)

Neuroimaging findings in patient series with mucopolysaccharidosis.

INTRODUCTION: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously reported. MATERIAL AND METHODS: We retrospectively analysed the medical records of 19 patients who had been diagnosed with MPS between 1992 and 2010: 7 had type I (5 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 10 had type II or Hunter syndrome (4 with the severe form and 6 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome. We assessed the brain neuroimaging studies: computed axial tomography (CAT) in 5 patients, and magnetic resonance imaging (MRI) in 15. RESULTS: We observed a broad spectrum of neuroimaging anomalies. In CAT: mega cisterna magna (3/5, 60%). In brain MRI: dilated Virchow-Robin perivascular spaces (11/15, 73%), white matter abnormalities (11/15, 73%), and ventriculomegaly (5/15, 33%). CONCLUSIONS: Abnormal findings in neuroimaging studies are frequent in MPS (dilated Virchow-Robin perivascular spaces, white matter abnormalities and ventriculomegaly). Thus, given these abnormalities we should be aware of this possible diagnosis, particularly when typical signs and symptoms are present. However, we did not find a correlation between these findings and either any specific type of MPS or clinical severity.

[Presurgery neuropsychological evaluation in pediatric focal epilepsies]. / Evaluación neuropsicológica prequirúrgica en epilepsias focales pediátricas.

INTRODUCTION: Neuropsychological assessment is included in the protocols for evaluation of epilepsy surgery candidates, providing information about the patient's cognitive dysfunctions, allowing for prediction of possible cognitive deficits derived from surgery and yielding objective measures of any post-surgical changes. Neuropsychological disturbances constitute an important co-morbidity of medically intractable epilepsy. An early epilepsy onset in infancy may lead to cognitive dysfunctions that are atypical in terms of brain localization, due to the inherent plasticity and reorganization processes of the immature brain. The analysis of the neuropsychological profiles of paediatric focal epilepsies is much more complex than in the adult population. DEVELOPMENT AND CONCLUSIONS: In this paper, we review the neuropsychological disturbances associated to focal epilepsies (posterior cortex, temporal and frontal epilepsies), stressing the point that there is a considerable lack of rigorous studies on the topic in the literature, in spite of this being an essential part of the presurgical work-up in epilepsy patients.

[Differences between the neuropsychological profiles of Asperger's syndrome and non-verbal learning disorder]. / Diferencias entre los perfiles neuropsicológicos del síndrome de Asperger y del sindrome de dificultades de aprendizaje no verbal.

INTRODUCTION: The validity of the Asperger syndrome (AS) diagnose continues to be debated due to the lack of consensus on its definition, specially regarding higher-functioning autism. Previous research has suggested that the neuropsychological profile of the non verbal learning syndrome (NVLS) might be utilized to sustain a differential diagnose of the AS with other diseases associated with development. AIM: To analyze the neuropsychological profile of children diagnosed with AS and compare with those obtained from children with NVLS. SUBJECTS AND METHODS: All cognitive domains from 15 children have been evaluated with an extensive variety of tests; 5 were diagnosed with AS and 5 with NVLS, all of them submitted to the Nino Jesus Children's University Hospital. As a control group, another 5 children with no pathology were evaluated. RESULTS: Obtained data shows significant differences between the two groups under study. Profile from individuals under AS shows deficit in linguistic as well as non verbal skills and, when compared to the control group, executive functions seem to be generally more altered. CONCLUSIONS: Further investigation is suggested to determine that the NVLS could be an explanation model for AS. On the other hand, we stress the need to deepen the study of the executive functions and their relationship with the mind's theory, as an hypothesis to explain the AS.

Diferencias entre los perfiles neuropsicológicos del síndrome de Asperger y del síndrome de dificultades de aprendizaje no verbal / Differences between the neuropsychological profiles of asperger’s syndrome and non-verbal learning disorder

La validez del diagnóstico del síndrome de Asperger (SA) sigue siendo un tema a debate, debido, sobretodo, a la falta de consenso en su definición frente al autismo de alto nivel. La investigación previa ha sugerido que el perfil neuropsicológico del síndrome de dificultades de aprendizaje no verbal (SDANV) puede servir para apoyar un diagnóstico diferencial del SA con otros trastornos generalizados del desarrollo. Objetivo. Analizar los perfiles neuropsicológicos de niñoscon diagnóstico de SA y compararlos con los obtenidos de niños con SDANV. Sujetos y métodos. Se han evaluado, conuna extensa batería de pruebas, todos los dominios cognitivos de 15 niños, de los cuales cinco tenían diagnóstico de SA y cinco de SDANV, todos ellos remitidos al Hospital Universitario Niño Jesús. Como grupo control se evaluó a otros cinco niñossin patología. Resultados. Los datos obtenidos muestran diferencias significativas entre los grupos estudiados. El perfil de los niños con SA muestra déficit tanto en habilidades lingüísticas como no verbales y, en comparación con el grupo control, se registrauna alteración más generalizada de funciones ejecutivas. Conclusiones. Sugerimos más investigación en la línea de justificar que el SDANV pueda ser un modelo explicativo del SA. Por otro lado, destacamos el interés de profundizar en el estudio de las funciones ejecutivas y su relación con la teoría de la mente, como hipótesis para explicar el SA

The validity of the Asperger syndrome (AS) diagnose continues to be debated due to the lack ofconsensus on its definition, specially regarding higher-functioning autism. Previous research has suggested that the neuropsychological profile of the non verbal learning syndrome (NVLS) might be utilized to sustain a differential diagnose of the AS with other diseases associated with development. Aim. To analyze the neuropsychological profile of children diagnosed withAS and compare with those obtained from children with NVLS. Subjects and methods. All cognitive domains from 15 children have been evaluated with an extensive variety of tests; 5 were diagnosed with AS and 5 with NVLS, all of them submitted to the Niño Jesus Children’s University Hospital. As a control group, another 5 children with no pathology were evaluated. Results.Obtained data shows significant differences between the two groups under study. Profile from individuals under AS shows deficit in linguistic as well as non verbal skills and, when compared to the control group, executive functions seem to be generally more altered. Conclusions. Further investigation is suggested to determine that the NVLS could be an explanationmodel for AS. On the other hand, we stress the need to deepen the study of the executive functions and their relationship with the mind’s theory, as an hypothesis to explain the AS

[Attention process training application within an intervention project on attentional processes in children with cancer]. / Aplicacion del Attention Process Training dentro de un proyecto de intervencion en procesos atencionales en niños con cancer.

INTRODUCTION: Childhood cancer treatments have made a spectacular advance in recent years, obtaining survival rates of about 70%. These survival rates have permitted many children to reach adulthood, but also involve the appearance of previously unknown neurocognitive sequelae because of high mortality. DEVELOPMENT: Neuropsychological evaluation allows the detection of these deficits and the design of intervention. In children, rather than a loss of function there is a loss of the capacities that should develop in comparison with his/her peers. To obtain a base line to determine the affected and altered areas, it is equally vital to assess the acute and long term effects so as to evaluate the success of the intervention program. Attention Process Training (APT) is an individualized application program of attentional exercises of varying complexity in sustained, selective, alternating and divided attention. This program combines methods and techniques of cerebral damage rehabilitation, as well as educational and clinical psychology. It is completed with a self instruction training which is applied in situations of daily life. CONCLUSIONS: Child cancer treatment continues to carry long term neurocognitive sequelae. Neuropsychological evaluation is basic for its detection, allowing relevant information to be offered to parents and teachers, so as to facilitate design of individualized rehabilitation procedures. Attention training is basic for this type of population with generalized damage related to white matter, and forms part of a wider rehabilitation process that enhance the ecological validity of the program.

[Gerstmann's syndrome in a 9 year old boy]. / Síndrome de Gerstmann en un varón de 9 años.

INTRODUCTION: Gerstmann's syndrome encompasses the tetrad of finger agnosia, agraphia, acalculia and right-left confusion and is associated with lesions of the left angular gyrus, situated at the confluence of the temporal, parietal and occipital lobes. The localizing value of this syndrome has been questioned because multiple mechanisms can account for each of the four components of the syndrome. This clinical association is infrequent in children and it is impossible to diagnose in early stages of life because of parietal lobes have a slow functional development during childhood. CLINICAL CASE: We present the case of a learning disabled boy, 9 year old and right handed, who developed Gerstmann's syndrome. Acalculia, right-left disorientation, agraphia and finger agnosia were clearly identified by neuropsychological studies at this time, but there was no evidence of this dysfunction when he was first studied being 5 year old. This patient had perinatal asphyxia and suffered from focal clonic seizures in early neonatal period. In this case, a infarcted lesion was found at the confluence of parietal and occipital lobes in cranial CT an MRI scans. CONCLUSION: We conclude that is very important to identify this syndrome during childhood using a wide range of neuropsychological tests in order to diminish learning disorders with an early psychopedagogic supervision.

Síndrome de Gerstmann en un varón de 9 años / Gerstmann´s syndrome in a 9 years old boy

Introduction. Gerstmann’s syndrome encompasses the tetrad of finger agnosia, agraphia, acalculia and right-left confusion and is associated with lesions of the left angular gyrus, situated at the confluence of the temporal, parietal and occipital lobes. The localizing value of this syndrome has been questioned because multiple mechanisms can account for each of the four components of the syndrome. This clinical association is infrequent in children and it is impossible to diagnose in early stages of life because of parietal lobes have a slow functional development during childhood. Clinical case. We present the case of a learning disabled boy, 9 year old and right handed, who developed Gerstmann’s syndrome. Acalculia, rightleft disorientation, agraphia and finger agnosia were clearly identified by neuropsychological studies at this time, but there was no evidence of this dysfunction when he was first studied being 5 year old. This patient had perinatal asphyxia and suffered from focal clonic seizures in early neonatal period. In this case, a infarcted lesion was found at the confluence of parietal and occipital lobes in cranial CT an MRI scans. Conclusion. We conclude that is very important to identify this syndrome during childhood using a wide range of neuropsychological tests in order to diminish learning disorders with an early psychopedagogic supervision (AU)

Introducción. El síndrome de Gerstmann comprende una tétrada diagnóstica que incluye: agnosia digital, agrafia, acalculia y confusión derecha-izquierda. Se asocia, generalmente, con lesiones en la circunvolución angular izquierda, situada en la confluencia de los lóbulos temporal, parietal y occipital. Se ha cuestionado, en muchas ocasiones, el valor localizador de este síndrome, ya que diversos mecanismos funcionales pueden generar cada uno de los es infrecuente en el niño y no es posible diagnosticarlo en la edad preescolar, ya que los lóbulos parietales presentan una maduración funcional muy lenta durante la infancia. Caso clínico. Se presenta el caso de un niño de 9 años de edad, diestro, con problemas de aprendizaje, que desarrolló un síndrome de Gerstmann. La acalculia, la desorientación derecha-izquierda, la agrafia y la agnosia digital fueron claramente identificadas mediante el estudio neuropsicológico ealizado a esa edad, pero no se objetivó evidencia de disfunción específica en el primer estudio que se realizó a los 5 años de vida. El paciente presentó asfixia perinatal y desarrolló crisis clónicas focales en el período neonatal precoz. Los estudios de neuroimagen (TAC y RMN craneales) mostraron la presencia de un infarto cerebral a nivel de la encrucijada parietoccipital izquierda. Conclusiones. Los autores quieren destacar que es muy importante la identificación de este síndrome en la edad escolar, mediante una amplia batería de pruebas neuropsicológicas, con el fin de instaurar un apoyo psicopedagógico precoz para intentar minimizar los defectos de aprendizaje resultantes (AU)