[Cap myopathy: a case report]. / Miopatía en gorra: a propósito de un caso.

AIM: To report a new case of a little-known congenital myopathy. Cap myopathy is a rare congenital disease caused by an alteration in the structure of the fibre, with disorganised myofibrils at the edges. Since it was first described, only a few cases have been reported in the literature. CASE REPORT: We describe the case of a 16-year-old patient with a history of neonatal hypotonia and psychomotor retardation. At the age of 4 years, the patient presented myopathic facies with atrophied pectoral muscles, winged scapula and lumbar hyperlordosis. A myopathic pattern was observed in the electromyogram. A muscle biopsy showed a very marked predominance of type I fibres, atrophy in part of the population of this type and 20% of them had cap-shaped subsarcolemmal accumulations, which were intensely positive with DPNH and SDH; in the ultrastructural study they correspond to disorganised peripheral myofibrils with preservation of the Z band and the absence of A bands. These alterations are similar to those described in what is known as cap disease or cap myopathy. Today, the patient has mild proximal tetraparesis and moderate restrictive respiratory failure.

[An update on the pharmacological treatment of attention deficit hyperactivity disorder: lisdexamphetamine and extended-release guanfacine]. / Actualizacion en el tratamiento farmacologico del trastorno por deficit de atencion/hiperactividad: lisdexanfetamina y guanfacina de liberacion retardada.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurodevelopmental disorders in the child population. Its treatment is complex and must include psychoeducational, environmental and pharmacological measures. In recent years, the main novelties as regards its pharmacological treatment have been the appearance of lisdexamphetamine and extended-release guanfacine. AIMS: The increase in the number of drugs available for the treatment of ADHD makes it possible to treat and cover a very wide range of different clinical situations. The purpose of this review is to perform an analysis of the literature on the two drugs. DEVELOPMENT: The study determines the strong points of both treatments, with special attention given to their mechanism of action, their tolerability and their efficacy. CONCLUSIONS: Extended-release guanfacine enables the professional to treat situations that are poorly covered by stimulants, such as children with irritability and tics, with a significant profile characterised by moderate efficacy and good tolerability and safety. The appearance of lisdexamphetamine has brought about a very important change because, according to the literature, it is a drug that, from the clinical point of view, is both complete and effective in improving the symptoms of ADHD. Moreover, it has a good safety profile.

TITLE: Actualizacion en el tratamiento farmacologico del trastorno por deficit de atencion/hiperactividad: lisdexanfetamina y guanfacina de liberacion retardada.Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo mas frecuentes en la poblacion infantil. Su tratamiento es complejo y debe incluir medidas psicoeducativas, ambientales y farmacologicas. En los ultimos años, las principales novedades respecto a su tratamiento farmacologico son la aparicion de la lisdexanfetamina y la guanfacina de liberacion retardada. Objetivo. El aumento del numero de farmacos disponibles para el tratamiento del TDAH permite tratar y cubrir situaciones clinicas muy diversas. El proposito de la presente revision es realizar un analisis de la bibliografia sobre ambos farmacos. Desarrollo. Se establecen los puntos fuertes de ambos tratamientos, atendiendo especialmente a su mecanismo de accion, a su tolerabilidad y a su eficacia. Conclusiones. La guanfacina de liberacion retardada permite tratar situaciones escasamente cubiertas con los estimulantes, tales como los niños con irritabilidad y tics, con un perfil significativo de moderada eficacia y una buena tolerabilidad y seguridad. La aparicion de la lisdexanfetamina ha supuesto un cambio muy importante porque, segun la bibliografia, se trataria de un farmaco completo y efectivo, desde el punto de vista clinico, para mejorar los sintomas del TDAH. Ademas, posee un buen perfil de seguridad.

[Arteriovenous malformations in children: a report of four cases]. / Malformaciones arteriovenosas en la infancia: a proposito de cuatro casos.

INTRODUCTION AND AIMS: Vascular malformations are the most frequent cause of intracranial haemorrhage (IH) after the neonatal period that are not due to traumatic injury. Arteriovenous malformations (AVM) are the vascular malformations that most often give rise to symptoms in infancy and are the most common cause of IH in children over one year of age. CASE REPORTS: We reviewed the medical records of all patients under the age of 16 years diagnosed with AVM from the year 2000 to the present. Four cases aged between 7 and 15 years were found, all of whom were examined with computerised tomography and/or magnetic resonance imaging and cerebral arteriography scans. One patient started with headaches and another had learning disabilities. The other two began with IH, the most common clinical manifestations of which were a diminished level of awareness and vomiting. The final diagnosis was established by means of arteriography in all cases. Surgical treatment was carried out in three cases (using surgery, catheter embolisation and stereotaxic radiosurgery) and the patients' progress following the intervention was excellent. CONCLUSIONS: Spontaneous haemorrhage constitutes the most common presenting symptom of AVM. However, there are sometimes earlier manifestations that are a challenge to diagnosis and which should be the target of future research, since preventing IH would lead to a drastic reduction in the morbidity and mortality rate of AVM.

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

INTRODUCTION: Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease that was first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these being different 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. We report 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. The examination revealed overall cerebellar ataxia and generalised spasticity. Magnetic resonance imaging (MRI) showed diffuse and symmetrical involvement of the white matter of the brain with the presence of cavities in which the signal intensity and the proton spectrum were similar to those of cerebrospinal fluid. The genetic study revealed a mutation of the gene that codes for eIF2B-epsilon. CONCLUSIONS: A suggestive MRI scan, even in an atypical presentation, would be enough to rule out a mutation of the genes that code for eIF2B. This would make it possible to reach an early diagnosis of this disease, which is probably more prevalent than is currently thought. This would allow genetic counselling to be conducted and would help to establish a genotype-phenotype correlate that would also make it possible to offer an estimated prognosis.

[Sustained effectiveness of osmotic-release methylphenidate: a study of 266 cases]. / Eficacia sostenida del metilfenidato de liberación osmótica: estudio en 266 casos.

INTRODUCTION: Methylphenidate (MTF) is effective for the treatment of attention deficit/hiperactivity disorder (ADHD). Osmotic-release MTF (MTF-O) allows a sustained effect along the day on attention and behaviour in patient with ADHD with a single dose. AIM: To confirm the sustained effectiveness of the MTF-O from the clinical point of view, in the family circle: PATIENTS AND METHODS: Study of 266 patients with ADHD. They were aged between 5 and 17 years. Distribution for sex 3/1 (boys/girls). Treatment with MTF-O was added and retired in two successive weekends, alternating the days. During these four days the following scales were filled at different hours: quantified criteria of DSM-IV-TR, modified ICG-M, and translated and modified Depremb-R. RESULTS: The following finds were observed under treatment: a statistically significant decrease in inattention, hyperactivity and impulsiveness (p < 0.01); a clinical improvement when getting up and going to bed by means of Depremb-R scale (p < 0.01); a reduction of the symptomatic intensity in the criteria of DSM-IV-TR, in the morning and in the afternoon (p < 0.01); a global improvement in attention and behaviour when getting up, lunchtime, dinner, and before going to bed according to the modified ICG-M. CONCLUSION: MTF-O improves characteristic symptoms of ADHD from the first hours of the morning until the hour of going to bed according to family assessment.

[The effects of methylphenidate on cognitive-attentional processes. The use of continuous performance tests]. / Efectos del metilfenidato en los procesos cognitivo-atencionales.Uso de los test de ejecución continuada.

INTRODUCTION AND DEVELOPMENT: Numerous trials have demonstrated the efficacy of stimulants on age-inappropriate levels of inattention, impulsivity and hyperactivity of patients with attention deficit/hyperactivity disorder (ADHD). Different externalizing (aggressive, conduct, oppositional) and internalizing (emotional) associated features can also get improved with stimulants. Effect of stimulant medication can be observed in different objective laboratory-neuropsychological test too, especially in Continuous Performance Tests (CPT). CPT have a good specificity and sensibility in diagnosis of ADHD although they are not diagnostic themselves. Errors of omissions and commissions are more frequent in ADHD patients than in controls. Responses to these tests improve under methylphenidate. General recommendations in ADHD treatment include systematic monitoring of medication effects from clinical point of view. CONCLUSIONS: CPT offer different advantages in this monitoring: good validity, objective measures and easy administration. Psychological measures, particularly CPT, can support clinical diagnosis and pharmacological monitoring in patients with ADHD.

[Larsen syndrome: two reports of cases with spinal cord compromise]. / Síndrome de Larsen: a propósito de dos casos con afectación medular.

INTRODUCTION: Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. CASE REPORTS: Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. CONCLUSIONS: Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.

[Asperger syndrome: diagnosis and treatment]. / Sindrome de Asperger: diagnostico y tratamiento.

INTRODUCTION AND DEVELOPMENT: Asperger syndrome is a pervasive developmental disorder characterized by social impairments, restricted interests, and repetitive behaviours. It is not associated with delay in language development as others pervasive developmental disorders. Diagnosis should be made based on a complete clinical history and psychological assessment; specific diagnostic instruments are useful. CONCLUSION: Asperger syndrome has no cure, but clinical features and those secondary to comorbid conditions could improve with an early diagnosis and correct individualized interventions.

Migraine symptoms related to the percutaneous closure of an ostium secundum atrial septal defect: report of four paediatric cases and review of the literature.

Several publications have recently suggested that atrial septal defect may be associated with the physiopathology of headache with migraine-type characteristics. We describe four previously asymptomatic paediatric patients with atrial septal defect who underwent percutaneous Amplatzer septal occluder device implantation and who subsequently developed symptoms compatible with migraine headache. The cases had normal echocardiograms after the intervention and a benign course with headache improvement after several weeks or months. There are paediatric patients with atrial septal defect who may dramatically develop migraine symptoms with or without aura following percutaneous correction of their defect. Large paediatric studies are needed to offer accurate prognoses for children and their families. The possibility of using clopidogrel to treat this type of headache is subject to debate.

Miopatía de Bethlem e hiperqueratosis folicular: una clave importante para el diagnóstico / Bethlem myopathy and folicular hyperkeratosis: an improtant key for the diagnosis

La miopatía de Bethlem es una forma rara de miopatía autosómica dominante relativamente benigna. Se describe el caso de una paciente de 4 años que acude por debilidad muscular, síndrome artrogripótico y tortícolis congénita en la que llama la atención la presencia crónica, desde los primeros meses de vida, de numerosas pápulas de pequeño tamaño que afectan a los folículos cutáneos en la superficie extensora de brazos, nalgas y extensoras y flexoras de piernas compatibles con una hiperqueratosis folicular. Este caso es un ejemplo de la importancia de la exploración pediátrica completa, incluyendo la cutánea, de todo paciente con sospecha de enfermedad neuromuscular, pues el llamativo hallazgo dermatológico contribuyó de forma decisiva a un diagnóstico exacto, pudiendo ofrecer un pronóstico y tratamiento adecuados (AU)

Bethlem myopathy is a rare form of myopathy with autosomal dominant inheritance and relatively good prognosis. We describe a 4 year aged patient with muscle weakness, arthrogryposis and congenital torticollis; since the first months of life, she had numerous small-sized papules which affect skin follicles in extensor regions of buttocks and arms, as well as extensor and flexor areas of both legs; this condition is compatible with a follicular hyperkeratosis. This case is a clear example that shows the importance of a pediatric complete physical examination, including skin, of all patients with suspicion of neuromuscular diseases; the striking dermatological finding in this patient decisively contributed to a final diagnosis, prognosis and therapeutic approaches (AU)

Amioplasia congenital: importancia de un diagnóstico que ofrece un pronóstico benigno / Congenital amyoplasia: importance of a diagnosis that offers benign prognosis

La amioplasia congenital es un síndrome congénito artrogripótico múltiple específico y esporádico no-hereditario caracterizado por una disminución de la masa muscular. Se trata de la causa más frecuente de artrogriposis múltiple. Nuestro propósito es describir un caso clínico con afectación predominante en miembros superiores, resaltando los datos clínicos claves (sobre todo las peculiares características Facio-craneales que tanto facilitan el diagnóstico), el buen pronóstico a largo plazo y tranquilizador consejo genético que puede ofrecerse una vez realizado un diagnóstico adecuado (AU)

The amyoplasia congénita is a specific multiple arthrogrypotic congential syndrome, sporadic, non-hereditary, characterized by a decrease of muscle mass. It is the most frequent cause of multiple arthrogryposis. Our objective is to describe clinically a typical case with predominant alterations in upper extremities, highlighting the cardinal clinical data (especially all peculiar facial and cranial features that facilitates its diagnosis), the good long-term prognosis and the reassuring genetic counseling that could be offered once a correct diagnosis has been made (AU)

Resonancia magnética fetal en la esclerosis tuberosa / Fetal magnetic resonance imaging in tuberous sclerosis

La esclerosis tuberosa es un trastorno multisistémico, de herencia autosómica dominante, que afecta a diversos órganos, como el cerebro, la piel, los riñones, los ojos y el corazón. Exponemos 3 casos clínicos diagnosticados prenatalmente tras el hallazgo incidental de uno o más rabdomiomas cardiacos en las ecografías de control, y lesiones cerebrales halladas posteriormente mediante resonancia magnética (RM) fetal. Esta técnica tiene un gran valor como prueba complementaria en el diagnóstico, pronóstico y consejo genético de la esclerosis tuberosa. Analizamos los casos de 3 mujeres gestantes en cuyas ecografías sistemáticas fetales se detectó la presencia de uno o más rabdomiomas cardiacos. Se realizó una RM fetal que mostraba nódulos subependimarios periventriculares ,y se confirmó el diagnóstico de esclerosis tuberosa. Dos de las 3 ecografías fetales no mostraban nódulos subependimarios cerebrales(ni otra alteración objetivable de esclerosis tuberosa en el sistema nervioso central) una semana antes de la realización de la RM. Dado que cada vez es más frecuente la petición de valoración de consejo genético y pronóstico por parte del servicio de ginecología-obstetricia a los pediatras, nos parece importante dar a conocer que la presencia de tan sólo un rabdomioma cardiaco conlleva necesariamente la recomendación de realizar una RM fetal, dado que la ecografía resulta insuficiente para la detección de las anomalías cerebrales que pueden acompañar a dicho hallazgo(AU)

Tuberous sclerosis is a multisystemic syndrome that affects diverse organs like brain, skin, kidneys, eyes and heart. We expose three clinical cases of tuberous sclerosis diagnosed prenatally after the incidental discovery of at less one cardiac rhabdomyoma in the routine ultrasound examination and cerebral lesions found later on by fetal magnetic resonance imaging. This technique has great impact on diagnosis, prognosis and genetic counseling of tuberous sclerosis. We analyze three women whose pregnancy had been initially uncomplicated. In their routine ultrasound examination one or more cardiac rhabdomyoma are detected. Magnetic fetal resonance is carried out and they show subependymal nodules establishing the clinical diagnosis of tuberous sclerosis. Two of the three fetal ultrasound examination didn’t show brain subependymal nodules (neither another feature of tuberous sclerosis in the nervous central system) one week before the realization of the fetal magnetic resonance imaging. Pregnant women with a fetus likely affected with a disease are frequently referred for diagnosis, prognosis and genetic counseling by obstetrics and gynecology specialists to the pediatricians. For that reason, is important to give to know that the presence of only one cardiac rhabdomyoma should continue of the recommendation of the realization of a magnetic fetal resonance, since fetal ultrasound examination is less accurate in the detection of the cerebral anomalies that can be associated with this finding(AU)

Hallazgos en la resonancia magnética potenciada en difusión en un niño con cerebelitis aguda / Findings in diffusion-weighted magnetic resonance n a child with acute cerebelitis

La cerebelitis aguda consiste en una enfermedad de comienzo súbito, habitualmente de curso limitado y benigno. Nuestro propósito es describir un caso clínico con hallazgo reversibles en la resonancia magnética (RM) potenciada en difusión en un niño con una cerebelitis aguda postvaricelosa. Varón de 5 años, que presentó varicela 15 días antes de ser ingresado, que acude por fiebre, rigidez cervical y disartria. En el examen neurológico destacaban signos de afectación cerebelosa. Se realiza RM potenciada en difusión, apareciendo alteraciones en dicha secuencia, pero no en aquellas potenciadas en T1, T2 o FLAIR. El enfermo mejoró rápidamente y la RM era normal al mes de alta. La cerebelitis aguda puede, ocasionalmente, ser diagnosticada únicamente mediante la RM potenciada en difusión, por lo que esta técnica debe ser añadida a las secuencias convencionales en aquellos casos en los que se sospeche dicho trastorno (AU)

Acute cerebellitis consists of a sudden onset illness, which normally follows a limited course and is of a benign nature. Our purpose is to describe a clinical case with reversible lesions in MR diffusion-weighted imaging (DWI) findings in a child that has post-varicella acute cerebellitis. Five year old male that developed chickenpox 15 days before being admitted with fever, cervical rigidity and dysarthria. During the neurological examination cerebellar affection signs were found. When DWI was performed, hyperintensity of cerebellar hemispheres appeared, but not in T1, T2 and FLAIR sequences. The patient showed rapid improvement and the MR was normal a month after discharge. Acute cerebellitis may sometimes be diagnosed only on DWI, hence this technique should be added to conventional MR in suspected cases (AU)

Empeoramiento de la cefalea tras la administración de topiramato en un niño con migraña con aura / Worsening topiramate-associated headache in a child with migraine with aura

No disponible

Aspectos clínicos de tres pacientes con el síndrome 48, XXYY / Clinical aspects in three patients with the 48, XXYY syndrome

Objetivos: El síndrome de Klinefelter (SK) se presenta en varones como consecuencia de la presencia de al menos un cromosoma X extra (47, XXY). El síndrome 48, XXYY presenta un fenotipo similar. Se ha mantenido que los niños con síndrome 48, XXYY tienen una afectación intelectual más grave y una mayor prevalencia de síntomas psiquiátricos, sobre todo en lo referente a la conducta, y habitualmente son «más agresivos». Casos clínicos: Exponemos tres pacientes pediátricos con cariotipo 48, XXYY en los que encontramos fenotipos conductuales muy distintos pero con algunos rasgos neuropsicológicos similares. En los pacientes descritos se observa un fenotipo similar al del SK, caracterizado por dificultades en el aprendizaje basadas en el lenguaje (dislexia/disfasia), así como una disfunción frontal-ejecutiva (déficit de atención) y alteraciones en la destreza motora (dispraxia del desarrollo). Sólo uno de los pacientes mostró una sintomatología agresiva incontrolable, debido a la nula colaboración por parte de la familia. En cambio, otro de los niños, cuya colaboración paterna fue total, mostró una conducta normal. Conclusiones: El síndrome 48, XXYY se expresa a través de problemas muy frecuentes en nuestra práctica clínica cotidiana. El fenotipo es muy variable entre los distintos pacientes y, a nuestro juicio, muy determinado por las variables externas que lo envuelven (dinámica familiar, diagnóstico y tratamiento precoz de los trastornos asociados) (AU)

Objectives: Klinefelter’s syndrome (KS) occurs in males as a consequence of the presence of at least an extra X chromosome (47, XXY). A similar phenotype appears in 48, XXYY syndrome. It has been shown that children with 48, XXYY syndrome have a greater intellectual impairment and a higher prevalence of psychiatric symptoms, especially those concerning behavior, with a propensity for aggression. Clinical cases: We present three pediatric patients with a 48, XXYY karyotype in which we find very different behavioral phenotypes but with some similar neuropsychological features. The described patients present a phenotype that is similar to that of KS, which is characterized by language learning disabilities (dyslexia/dysphasia), as well as frontal executive impairment(attention deficit) and motor skills disorder (developmental dyspraxia). Only one of the patients presented uncontrollably aggressive symptoms due to a lack of cooperation by part of his family. However, another patient with complete paternal cooperation, showed normal behavior. Conclusions: Many of the problems presented in 48, XXYY syndrome routinely come up in our daily practice. The phenotype varies among patients and, from our point of view, is easily influenced by external conditions surrounding the patients (family dynamics, diagnosis and early treatment of the associated disorders) (AU)