Response to methylphenidate by adult and pediatric patients with attention-deficit/hyperactivity disorder: the Spanish multicenter DIHANA study.

BACKGROUND: The purpose of this multicenter Spanish study was to evaluate the response to immediate-release methylphenidate by children and adults diagnosed with attention-deficit/hyperactivity disorder (ADHD), as well as to obtain information on current therapy patterns and safety characteristics. METHODS: This multicenter, observational, retrospective, noninterventional study included 730 patients aged 4-65 years with a diagnosis of ADHD. Information was obtained based on a review of medical records for the years 2002-2006 in sequential order. RESULTS: The ADHD predominantly inattentive subtype affected 29.7% of patients, ADHD predominantly hyperactive-impulsive was found in 5.2%, and the combined subtype in 65.1%. Overall, a significant lower Clinical Global Impression (CGI) score and mean number of DSM-IV TR (Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, Text Revision) symptoms by subtype were found after one year of treatment with immediate-release methylphenidate; CGI decreased from 4.51 to 1.69, symptoms of inattention from 7.90 to 4.34, symptoms of hyperactivity from 6.73 to 3.39, and combined subtype symptoms from 14.62 to 7.7. Satisfaction with immediate-release methylphenidate after one year was evaluated as "very satisfied" or "satisfied" by 86.90% of the sample; 25.75% of all patients reported at least one adverse effect. At the end of the study, 41.47% of all the patients treated with immediate-release methylphenidate were still receiving it, with a mean time of 3.80 years on therapy. CONCLUSION: Good efficacy and safety results were found for immediate-release methylphenidate in patients with ADHD.

[Non-verbal learning disorders: a clinical study and pharmacological treatment]. / Trastornos del aprendizaje no verbal: estudio clínico y tratamiento farmacológico.

INTRODUCTION: Non-verbal learning disorder (NVLD) is the name given to a complex group of difficulties with a well-defined biological substrate. Their clinical manifestations affect the motor area, visuospatial organisation and the social competencies. AIM: To analyse the semiology that differentially identifies NVLD by means of a model of interpretation based on the experience gained in a non-verbal learning disorder service (NVLDS) and in the neuropaediatric unit of a hospital. PATIENTS AND METHODS: The study included 65 cases: 22 from a NVLDS (20 boys/2 girls), 17 between 6-11 years old and 5 between 12-16 years of age; and 43 cases from a hospital unit, with a mean age of 9.7 years (range: 8-16 years), of whom 59 were males (91%) and 6 were females (9%). The phenotype analysis was designed using a clinical inventory divided into four blocks (social, graphomotor, perceptive and attentional). Hospital sample: deficits in attention, motor control and perception (DAMP) (58%), graphomotor (18%), attentional (16%) and social (8%). NVLDS sample: graphomotor (35.8%), DAMP (29.8%), social (21%) and attentional (12%). RESULTS AND CONCLUSIONS: Clinical experience in NVLD is scarce. The early findings of this research encourage us to defend this 'NVLD continuum' model, in which the therapeutic response to psychopharmaceuticals is very similar to that of other processes, such as attention deficit hyperactivity disorder, although it does possess its own particularities especially with regard to distractibility and a misinterpreted paradoxical effect of methylphenidate.

Trastornos del aprendizaje no verbal: estudio clínico y tratamiento farmacológico / Non-verbal learning disorders: A Clinical study and pharmacoogial treatment

Introducción. El trastorno del aprendizaje no verbal (TANV) es un grupo complejo de dificultades con sustrato biológico definido. Sus manifestaciones clínicas afectan al área motora, a la organización visuoespacial y a las competencias sociales. Objetivo. Analizar la semiología que identifica diferencialmente al TANV a través de un modelo de interpretación que parte de la experiencia acumulada en una consulta de dificultades del aprendizaje no verbal (CDANV) y en una unidad de neuropediatría hospitalaria. Pacientes y métodos. 65 casos: 22 casos procedentes de la CDANV (20 niños/2 niñas), 17 entre 6-11 años y 5 entre 12-16 años; y 43 casos procedentes de la unidad hospitalaria, con una edad media de 9,7 años (rango: 8- 16 años). 59 hombres (91%) y 6 mujeres (9%). El análisis fenotípico se diseñó mediante un inventario clínico distribuido en cuatro bloques (social, grafomotor, perceptivo y atencional). Muestra hospitalaria: déficit de atención, del control motor y de la percepción (DAMP) (58%), grafomotor (18%), atencional (16%) y social (8%). Muestra CDANV: grafomotor (35,8%), DAMP (29,8%), social (21%) y atencional (12%). Resultados y conclusiones. Existe escasa experiencia clínica en el TANV. Los primeros resultados de esta investigación nos animan a defender este modelo de ‘continuo TANV’, en el que la respuesta terapéutica a los psicofármacos es muy parecida a la de otros procesos, como el trastorno por déficit de atención/hiperactividad, aunque con ciertas particularidades, especialmente las referentes a la distrabilidad y a un malinterpretado efecto paradójico al metilfenidato (AU)

Introduction. Non-verbal learning disorder (NVLD) is the name given to a complex group of difficulties with a well-defined biological substrate. Their clinical manifestations affect the motor area, visuospatial organisation and the social competencies. Aim. To analyse the semiology that differentially identifies NVLD by means of a model of interpretation based on the experience gained in a non-verbal learning disorder service (NVLDS) and in the neuropaediatric unit of a hospital. Patients and methods. The study included 65 cases: 22 from a NVLDS (20 boys/2 girls), 17 between 6-11 years old and 5 between 12-16 years of age; and 43 cases from a hospital unit, with a mean age of 9.7 years (range: 8-16 years), of whom 59 were males (91%) and 6 were females (9%). The phenotype analysis was designed using a clinical inventory divided into four blocks (social, graphomotor, perceptive and attentional). Hospital sample: deficits in attention, motor control and perception (DAMP) (58%), graphomotor (18%), attentional (16%) and social (8%). NVLDS sample: graphomotor (35.8%), DAMP (29.8%), social (21%) and attentional (12%). Results and conclusions. Clinical experience in NVLD is scarce. The early findings of this research encourage us to defend this ‘NVLD continuum’ model, in which the therapeutic response to psychopharmaceuticals is very similar to that of other processes, such as attention deficit hyperactivity disorder, although it does possess its own particularities especially with regard to distractibility and a misinterpreted paradoxical effect of methylphenidate (AU)

[Clinical assessment of attention deficit hyperactivity disorder, interview model and controversial issues]. / Evaluación clínica del trastorno por déficit deatención/hiperactividad, modelo de entrevista y controversias.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most frequent reasons for visits to neuropaediatric services. Although the clinical criteria are well established, the medical history is probably not examined with enough care and the most decisive symptoms go unnoticed. AIM. To review a clinical interview model by analysing the first visit of a sample of patients. PATIENTS AND METHODS: Our sample consisted of 108 schoolchildren with ADHD whose first visit was to a clinic specialised in hyperactivity and learning difficulties. The most significant data were families' concern about academic achievement, the higher prevalence of the combined subtype of ADHD in girls and age at the visit, with a growing demand for health care during the preschool stage and after the teenage period. RESULTS: The data obtained define a familial scenario or model of ADHD where there is a mixture of the symptoms of the parents, their occupational situation, that of their partner and the ADHD phenotype of the schoolchild we are dealing with. CONCLUSIONS: More attention must be paid to the neurodevelopmental period in the preschool stage. Language, which is the most affected area, is the foundation underlying both behaviour and socialisation. Their delayed development, together with the lack of interest in games and clumsiness, is among the features that have been identified for ADHD in small children. Interpreting temperament and explosive behaviour as difficulties hindering social learning is another of the considerations that can be deduced from this clinical research.

Evaluación clínica del trastorno por déficit de atención/hiperactividad, modelo de entrevista y controversias / Clinical assessment of attention déficit hyperactivity disorder, interview model and controversial issues

Introducción. El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los principales motivos de consulta en neuropediatría. Aunque los criterios clínicos están bien establecidos, probablemente no se repare de manera rigurosa en la historia clínica y no se adviertan adecuadamente los síntomas más determinantes. Objetivo. Revisar un modelo de entrevista clínica a través del análisis de la primera visita de una muestra de pacientes. Pacientes y métodos. Se estudia una muestra de 108 escolares con TDAH que acudieron como primera visita a una consulta especializada en hiperactividad y trastornos del aprendizaje. Los datos más significativos fueron la preocupación de las familias por los resultados académicos, la mayor prevalencia del subtipo TDAH-combinado en niñas y la edad de consulta, con una creciente demanda asistencial durante la etapa preescolar y tras la adolescencia. Resultados. Los datos obtenidos definen un escenario o modelo familiar de TDAH donde se mezclan los síntomas de los padres, su situación laboral, la de la pareja y el fenotipo TDAH del escolar que atendemos. Conclusiones. Es necesaria una mayor atención al período del neurodesarrollo de la etapa preescolar. En el lenguaje, que es el área más afectada, se cimenta la conducta y la socialización. Su retraso, junto con el pobre interés sostenido por el juego y la torpeza, está presente entre las características identificadas para el TDAH en niños pequeños. La interpretación del temperamento y el comportamiento explosivo como una dificultad para el aprendizaje social es otra de las consideraciones que se deducen de esta investigación clínica (AU)

Introduction. Attention deficit hyperactivity disorder (ADHD) is one of the most frequent reasons for visits to neuropaediatric services. Although the clinical criteria are well established, the medical history is probably not examined with enough care and the most decisive symptoms go unnoticed. Aim. To review a clinical interview model by analysing the first visit of a sample of patients. Patients and methods. Our sample consisted of 108 schoolchildren with ADHD whose first visit was to a clinic specialised in hyperactivity and learning difficulties. The most significant data were families’ concern about academic achievement, the higher prevalence of the combined subtype of ADHD in girls and age at the visit, with a growing demand for health care during the preschool stage and after the teenage period. Results. The data obtained define a familial scenario or model of ADHD where there is a mixture of the symptoms of the parents, their occupational situation, that of their partner and the ADHD phenotype of the schoolchild we are dealing with. Conclusions. More attention must be paid to the neurodevelopmental period in the preschool stage. Language, which is the most affected area, is the foundation underlying both behaviour and socialisation. Their delayed development, together with the lack of interest in games and clumsiness, is among the features that have been identified for ADHD in small children. Interpreting temperament and explosive behaviour as difficulties hindering social learning is another of the considerations that can be deduced from this clinical research (AU)

[A review of the alert and psycholinguistic intervention model in attention deficit hyperactivity disorder]. / Revisión del modelo de alerta e intervención psicolingüísticaen el trastorno por déficit de atención e hiperactividad.

INTRODUCTION: In every class in our schools, teachers are faced with one or two children with attention deficit hyperactivity disorder (ADHD), a neurobiological disorder with three main clinical axes: lack of attention, hyperactivity and impulsiveness. Generally speaking, these children develop poorer psycholinguistic skills, although over 50% of these problems remain undetected because they are concealed by the child's behaviour. Most of the children will see some kind of adverse effect on their academic performance, chiefly in areas concerning reading and writing. DEVELOPMENT: The language disorders in ADHD are mainly related to the areas of semantics and pragmatics and, to a lesser extent, to phonetic-phonological aspects. They are discernible from the earliest months of life, during the preverbal stage, which is the time when the infant's character is being shaped. In this case, our experience shows that the character can be classed as difficult or inflexible and explosive in 56.5% of children diagnosed with ADHD. Moreover, we know that many children with this disorder find it difficult to engage in play, and 30% of them have retarded language development. A rather undefined percentage of children can have similar problems to those of children with autism spectrum disorders, which makes the differential diagnosis even more complicated. CONCLUSIONS: The mixed model of intervention in ADHD includes language work within the context of cognitive-behavioural programmes and the development of narrative skills and social competencies through a literary creativity workshop. This study offers a review of the psycholinguistic problems affecting children with ADHD in the light of our own experience, together with other clinical evidence.

Revisión del modelo de alerta e intervención psicolingüística en el trastorno por déficit de atención e hiperactividad / A review of the alert and psycholinguistic intervention model in attention deficit hyperactivity disorder

Introducción. En nuestros colegios, el profesorado seenfrenta a uno o dos niños con trastorno por déficit de atención ehiperactividad (TDAH) por aula, una alteración neurobiológicacon tres ejes clínicos principales: falta de atención, hiperactividade impulsividad. En general, estos niños desarrollan peoreshabilidades psicolingüísticas, aunque más del 50% de esos problemasno son detectados, enmascarados por la conducta. La mayoríade los niños sufrirá algún tipo de impacto académico, principalmenteen las áreas de la lectoescritura. Desarrollo. Las alteracionesdel lenguaje del TDAH están principalmente relacionadascon las áreas semántica y pragmática y, en menor medida,con las áreas fonético-fonológicas. Son demostrables desde losprimeros meses de vida, durante la etapa preverbal, tiempo en elque se modela el temperamento infantil, que puede catalogarse dedifícil o inflexible y explosivo en el 56,5% de los niños diagnosticados de TDAH según nuestra experiencia. Sabemos, por otro lado,que muchos niños con este trastorno manifiestan dificultadespara el desarrollo del juego, y el 30% de ellos, retraso del lenguaje.Un porcentaje no bien definido puede tener una problemáticasimilar a la de los niños con trastorno del espectro autista, lo quedificulta aún más el diagnóstico diferencial. Conclusiones. El modelomixto de intervención en el TDAH incluye el trabajo del lenguajeen el contexto de los programas cognitivo-conductuales y eldesarrollo de las habilidades narrativas y de las competenciassociales a través de un taller de creatividad literaria. Se realizauna revisión de la problemática psicolingüística que afecta a loschicos con TDAH a la luz de nuestra experiencia y otras evidenciasclínicas

Introduction. In every class in our schools, teachers are faced with one or two children with attention deficithyperactivity disorder (ADHD), a neurobiological disorder with three main clinical axes: lack of attention, hyperactivity andimpulsiveness. Generally speaking, these children develop poorer psycholinguistic skills, although over 50% of these problemsremain undetected because they are concealed by the child’s behaviour. Most of the children will see some kind of adverseeffect on their academic performance, chiefly in areas concerning reading and writing. Development. The language disordersin ADHD are mainly related to the areas of semantics and pragmatics and, to a lesser extent, to phonetic-phonologicalaspects. They are discernible from the earliest months of life, during the preverbal stage, which is the time when the infant’scharacter is being shaped. In this case, our experience shows that the character can be classed as difficult or inflexible andexplosive in 56.5% of children diagnosed with ADHD. Moreover, we know that many children with this disorder find it difficultto engage in play, and 30% of them have retarded language development. A rather undefined percentage of children can havesimilar problems to those of children with autism spectrum disorders, which makes the differential diagnosis even morecomplicated. Conclusions. The mixed model of intervention in ADHD includes language work within the context of cognitivebehaviouralprogrammes and the development of narrative skills and social competencies through a literary creativityworkshop. This study offers a review of the psycholinguistic problems affecting children with ADHD in the light of our ownexperience, together with other clinical evidence

El lenguaje en el trastorno por déficit de atención con hiperactividad: competencias narrativas / No disponible

El trastorno por déficit de atención con hiperactividad (TDAH) es un proceso muy prevalente. En nuestra experienciaafecta al 7,5% de los escolares de 8 a 9 años. La disfunción cognitiva que lo caracteriza está en el fallo en las funcionesejecutivas, en la internalización del lenguaje y, por tanto, en la capacidad de análisis y síntesis de la información. Los niñoscon TDAH tienen dificultades en la organización fonológica y en la sintaxis. Manifiestan problemas graves en aquellas tareasque requieren organización semántica, tienen una pobre memoria auditiva y, de manera especial, dificultades en la comunicacióny en la pragmática. Pierden mucha información verbal debido a su disfunción ejecutiva. Es más probable ademásque desarrollen problemas del aprendizaje, principalmente en tareas de lectoescritura. Los niños con TDAH tienen de maneraespecial grandes dificultades narrativas, uno de los apoyos de la naturaleza pragmática del lenguaje. Toda aquella tareacompleja que requiera planificación, organización y regulación ejecutiva de las conductas lingüísticas plantea mayores problemasque en individuos sanos. Para diseñar alguna de las estrategias útiles en el diagnóstico y en el tratamiento de la capacidadnarrativa del niño con TDAH pueden extrapolarse métodos como el retelling o ‘elaboración de historias’. La experienciareeducativa de Gillig para malos lectores a través del cuento puede ser útil para diseñar un taller de habilitación de la lectoescrituray de las habilidades narrativas en niños con TDAH. En nuestra experiencia psicoeducativa, ésta puede ser unaestrategia psicopedagógica interesante

[Hyperactivity in preschoolers: a clinical description]. / Hiperactividad en el nino preescolar: descripción clinica. jvaquerizo@neuroinfancia.com

INTRODUCTION: Hyperactivity is a behavioural development disorder characterised by disruptive motor activity that prevents the individual from establishing adequate social ties and normal communication, which are an essential part of a child's overall development. It is an unspecific symptom of several neurocognitive disorders, the most frequent of which is attention deficit hyperactivity disorder (ADHD). PATIENTS AND METHODS: We present the results of two investigations. In the first, a case-control study, we conducted a comparative analysis of how the parents of 50 children diagnosed with ADHD remember the behaviour of their children during the first 12 months of their lives. The symptoms were separated into 3 clinical profiles (daytime irritability, eating disorders and sleep dysfunctions). Up to 33% of the families reported a history of at least one of these aspects. 41% of the children were described as being excessively restless, crying a lot or irritability, and being easily startled and very sensitive to noises, and 42.7% had difficulty in getting to sleep or displayed intermittent periods of sleep and woke up crying. For the second research project, which was to complement the previous one, we designed a survey which was answered by the parents of 78 patients diagnosed with ADHD. The questionnaire collected information about the first 5 years of life in 4 sections (28 items): behaviour up to the age of one year, psychomotor development, development of play, and the parents' general perception of their child (distracted-inattentive, impulsive, destructive, immature, negativist, oppositional, other). The Rasch mathematical model was used to obtain the clinical profile of the case mix. CONCLUSIONS: The clinical symptoms appear on a continuum throughout the early years of the child's life. The results of our experience allow us to develop a method of clinical examination focused on the evaluation of the individual's development, play, and communication and socialisation skills which can be used to approach the differential diagnosis of the hyperactive preschooler.

Hiperactividad en el niño preescolar: descripción clínica / Hypereactivity in preschoolers: A Clinical description

Introducción. La hiperactividad es un trastorno del desarrollo de la conducta caracterizado por una actividad motora disruptiva que impide que el individuo establezca los lazos sociales adecuados y se comunique con normalidad, parte esencial del desarrollo global del niño. Es un síntoma inespecífico de diversos trastornos neurocognitivos. El más frecuente es el trastorno por déficit de atención con hiperactividad (TDAH). Pacientes y métodos. Se presenta el resultado de dos investigaciones. En la primera de ellas, un estudio caso-control, se analizó de forma comparativa cómo recuerdan el comportamiento de sus hijos durante los primeros 12 meses de vida los padres de 50 niños diagnosticados de TDAH. Se separó la sintomatología en 3 perfiles clínicos (irritabilidad diurna, trastornos en las conductas alimentarias y disfunciones del sueño). Hasta el 33% de las familias refería antecedentes de alguno de ellos. El 41% de los niños fueron descritos como excesivamente inquietos, llorones o irritables, y muy sensibles a los ruidos y sobresaltos, y el 42,7% tuvo dificultad para dormirse o manifestó sueño intermitente y despertares con llanto. Para el segundo proyecto de investigación, complementario al anterior, se diseñó una encuesta anamnésica que respondieron los padres de 78 pacientes diagnosticados de TDAH. El cuestionario recogía la información sobre los primeros 5 años de la vida en 4 apartados (28 ítems): las conductas durante el primer año de la vida, el desarrollo psicomotor, el desarrollo del juego, y la percepción general de los padres sobre su hijo (despistado-inatento, impulsivo, destructor, inmaduro, negativista, oposicional, otro). Mediante el modelo matemático de Rasch se obtuvo el perfil clínico de la casuística. Conclusiones. La semiología clínica se presenta en un continuo durante los primeros años de la vida. Los resultados de nuestra experiencia nos permiten desarrollar una metodología de exploración clínica, centrada en la valoración del desarrollo, el juego y las habilidades de comunicación y socialización para plantear el diagnóstico diferencial del preescolar hiperactivo (AU)

Introduction. Hyperactivity is a behavioural development disorder characterised by disruptive motor activity that prevents the individual from establishing adequate social ties and normal communication, which are an essential part of a child's overall development. It is an unspecific symptom of several neurocognitive disorders, the most frequent of which is attention deficit hyperactivity disorder (ADHD). Patients and methods. We present the results of two investigations. In the first, a case-control study, we conducted a comparative analysis of how the parents of 50 children diagnosed with ADHD remember the behaviour of their children during the first 12 months of their lives. The symptoms were separated into 3 clinical profiles (daytime irritability, eating disorders and sleep dysfunctions). Up to 33% of the families reported a history of at least one of these aspects. 41% of the children were described as being excessively restless, crying a lot or irritability, and being easily startled and very sensitive to noises, and 42.7% had difficulty in getting to sleep or displayed intermittent periods of sleep and woke up crying. For the second research project, which was to complement the previous one, we designed a survey which was answered by the parents of 78 patients diagnosed with ADHD. The questionnaire collected information about the first 5 years of life in 4 sections (28 items): behaviour up to the age of one year, psychomotor development, development of play, and the parents' general perception of their child (distracted-inattentive, impulsive, destructive, immature, negativist, oppositional, other). The Rasch mathematical model was used to obtain the clinical profile of the case mix. Conclusions. The clinical symptoms appear on a continuum throughout the early years of the child's life. The results of our experience allow us to develop a method of clinical examination focused on the evaluation of the individual's development, play, and communication and socialisation skills which can be used to approach the differential diagnosis of the hyperactive preschooler (AU)

[Hair with a double crown and dilatation of Virchow-Robin spaces: a proposal for a new neurocutaneous association]. / Implantación del cabello en doble remolino y dilatación de los espacios de Virchow-Robin: propuesta de nueva asociación neurocutánea.

INTRODUCTION: The primitive ectoderm is the common origin of the nervous system, the skin and related organs. These structures can therefore be affected simultaneously by aggressions that take place during embryogenesis involving the ectodermal layer. To date multiple neurocutaneous associations have been reported, some of which were catalogued as genetically determined syndromes or diseases. Thus, it becomes possible to recognise these entities at an early stage, to carry out a better therapeutic approach to the neurological pathology and even, in some cases, to establish a prognosis. CASE REPORTS: We present five male patients between 2 and 7 years of age in whom we found a common pattern of deviated psychomotor and behavioural development consisting of a hyperactivity and impulsivity disorder associated to retarded language acquisition. Common to all of them was the hair growing with a double crown and dilatation of the Virchow-Robin spaces seen in the neuroimaging studies. CONCLUSIONS: We propose a clinical-radiological association that, to our knowledge, has no equivalent in the literature, and we highlight the importance of knowing how to recognise both the neuropsychiatric symptoms and the skin features, as well as the characteristic neuroimaging findings of this group of patients.

[Graphic skills in attention deficit hyperactivity disorder]. / Habilidades graficas en el trastorno por deficit de atencion con hiperactividad.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is the most frequent neuropsychiatric disorder in childhood and its prevalence rate is between 3 5%. SUBJECTS AND METHODS: We describe a study of 601 children aged between 8 and 9 in the 3rd and 4th years of primary education from 17 public schools in the area around Badajoz. The results of the Conners rating scale (CRS) and the drawings of the familial figure done to explore the following variables were analysed and compared: dominant or valued figure, number of colours used, number of anatomical elements (nose, mouth, etc.) and the complements included in the key figure (rings, skirts, etc.). RESULTS: Of all the schoolchildren who drew the picture in the classroom (n = 601), useful information was obtained from the CRS by teachers in 562 cases. 5% presented clinical traits of hyperactivity (HA); 2.5% met attention deficit (AD) criteria; 10% presented behavioural disorders (BD), and 7.5% showed signs of combined ADHD. Prevalence rate by sexes: ratio 3:1 (male: female) for AD; 5.5:1 for HA; 4:1 for BD. Drawing of the family (main variables): dominant figure: father (48%); mean size: 7.258 cm (range: 2.00 16.50 cm; SD: 2.57). Number of colours employed: 6.53 (SD: 2.90). A difference of two colours was observed for children with AD and HA (p = 0.011 and p =.0001, respectively). CONCLUSIONS: When this pattern is compared with the results from children with ADHD, a clear graphic deviation is observed in the model of the drawing of the familial figure.

[Zellweger syndrome. Reports on two new cases]. / Síndrome de Zellweger. Presentación de dos nuevos casos.

INTRODUCTION: Zellweger syndrome, or cerebrohepatorenal syndrome, is the most serious form of the peroxisomal diseases. Clinically, it is characterised by the association between craniofacial dysmorphia and neurological disorders, together with the involvement of other organs. To perform a diagnosis it is advisable to follow a procedural protocol that begins with the quantification of very long chain fatty acids in an assortment of samples (serum, fibroblasts and mononucleate cells), plasmalogens, branched chain fatty acids in serum (phytanic and pristanic acids), polyunsaturated acids and bile salts. Studies conducted with neuroimaging, renal echography, skeletal X rays and biopsy samples of different tissues will provide us with information about the involvement of different organs. CASE REPORTS: The first case we report is that of a male who, from birth, presented a distinctive phenotype with very large fontanelles, important hypotonia, epileptic seizures and acute organic disorders that led to death at the age of seven weeks. The second case involved a new born male suffering from prenatally diagnosed heart disease and craniofacial dysmorphia with hypotonia. CONCLUSIONS: Given the scarce survival rate of patients, early diagnosis of this type of disease is crucial and, although complex, a study must be conducted so as to be able to provide genetic counselling.

Síndrome de Zellweger. Presentación de dos nuevos casos / Zellweger syndrome. Reports on two new cases

Introducción. El síndrome de Zellweger o síndrome cerebro hepatorrenales la forma más grave de las enfermedades peroxisomales. Clínicamente, se caracteriza por la asociación de dismorfia craneofacial y alteraciones neurológicas, junto con la afectación de otros órganos. Para realizar el diagnóstico es conveniente recurrir a un protocolo de actuación que comienza con la cuantificación de los ácidos grasos de cadena muy larga en diversas muestras (suero,fibroblastos y células mononucleadas), plasmalógenos, ácidos ramificados en el suero (ácidos fitánico y pristánico), ácidos poliinsaturados y sales biliares; continúa con los estudios de neuroimagen, ecografía renal, radiografías de esqueleto, y concluye con la toma de muestras mediante biopsia de diversos tejidos, que nos aportará información acerca de la afectación de distintos órganos. Casos clínicos. Presentamos un primer caso de un varón que ya desde el nacimiento presenta un fenotipo peculiar, con fontanelas muy amplias, hipotonía grave, crisis epilépticas y agudas alteraciones orgánicas que condujeron al fallecimiento a las siete semanas de vida. El segundo caso corresponde a un recién nacido varón afectado de una cardiopatía diagnosticada prenatalmente y dismorfia craneofacial con hipotonía. Conclusiones.El diagnóstico precoz de este tipo de enfermedades es crucial, dada la escasa supervivencia de los pacientes y la necesidad de realizar un estudio que, a pesar de resultar complejo, es necesario para poder ofrecer un consejo genético (AU)

[Miller-Dieker syndrome: a new case with cerebral echographic study]. / Síndrome de Miller-Dieker: aportación de un caso con estudio ecográfico cerebral.

INTRODUCTION: Miller-Dieker syndrome is characterized for type 1 lissencephaly associated with facial dysmorphism. In 90-95% of the cases, deletion of the distal fragment of chromosome 17 is seen. Nevertheless, this is difficult to confirm in about 50% of the cases, if we don't resort to special technics of molecular genetics. CLINICAL CASE: We show a 3 years old patient diagnosed of lissencephaly and with peculiar facial features in whom the cytogenetic study was normal, but by in situ hybridization deletion of 17p13.3 fragment was showed. CONCLUSION: We want to emphasize the ultrasonography findings and we want to suggest this easy imaging method and useful technic in the study of neuronal migrational disorders.

Síndrome de Miller-Dieker: aportación de un caso con estudio ecográfico cerebral / Miller-dieker syndrome: a new case with cerebral echographic study

Introducción. El síndrome de Miller-Dieker se caracteriza por la asociación de lisencefalia tipo I con dismorfia facial. En el 90-95 por ciento de los casos se observa deleción del fragmento distal del cromosoma 17; sin embargo, este hecho es difícil de comprobar en aproximadamente la mitad de los casos si no se recurre a técnicas especiales de genética molecular. Caso clínico. Presentamos una nueva observación en una paciente de 3 años diagnosticada de lisencefalia y con rasgos faciales peculiares, cuyo estudio citogenético resultó normal, pero por hibridación in situ pudo evidenciarse la deleción de la banda 17p13.3. Conclusión. Queremos destacar los hallazgos de ecografía transfontanelar y sugerir este método de imagen como técnica sencilla y útil en el estudio de los trastornos de la migración neuronal (AU)

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[Sylvian arachnoid cysts, temporal lobe hypoplasia and epileptic encephalopathy]. / Quistes aracnoideos silvianos, hipoplasia de lóbulos temporales y encefalopatía epiléptica.

CLINICAL CASE: The authors describe a 14 year-old boy with bilateral arachnoid cysts of the sylvian area and temporal lobe hypoplasia. Also showed vermis and brainstem hypoplasia. Clinically manifest a severe encephalopathy with tetraparesia, autism and late onset polymorphic epilepsy. He presented a favorable outcome with valproate and vigabatrine. To the best of our knowledge only one case like ours has been reported.