[Acute intermittent familial ataxia: report of a new family]. / Ataxia aguda intermitente familiar. Description de una nueva familia.

INTRODUCTION. Acute intermittent familial ataxia is a rare disorder with autosomal dominant inheritance and unknown etiology which usually in childhood or adolescence. CASE 1. A 33-years-old woman who suffered from giddiness, gait ataxia, dysarthria and somnolence episodes. These episodes lasted between 4 and 72 hours. They generally occurred within a framework of emotional or physical stress. The following tests were performed: hemogram and biochemistry, blood and urine toxicology, immunological tests, cerebrospinal-fluid study, electrocardiogram, electroencephalogram, trunk and visual evocated potentials, cerebral computed tomography and cerebral magnetic resonance imaging. None of them gave significative results. CASE 2. A 12-years-old boy, son of the previous woman, who suffered from somnolence, gait ataxia and dysarthria with acute beginning. The same tests than in the above case were performed together with metabolic studies. There were no pathological findings in this case, either. The symptoms disappeared gradually in 6 days. His familial history led to a diagnosis of acute intermittent familial ataxia. A year later he suffered from a similar disorder and he was immediately treated with acetazolamide. The symptoms disappeared in 2 hours. CONCLUSIONS. Acute intermittent familial ataxia is a disorder of difficult identification. It can be easily confused with other periodical ones, because its diagnosis has to be based on the clinical findings and on the familial history. For this purpose, a therapeutic test with acetazolamide can be useful, since in most cases a spectacular clinical improvement has been observed.

[Focal myositis: report of a case in pediatric age and review of the literature]. / Miositis focal: a propósito de un caso en edad pediátrica y revisión de la literatura.

INTRODUCTION AND CLINICAL CASE: We present the case of a 13 years old boy with a year-old history of a painful tumour on the external and distal third of the right thigh. The imaging tests suggested a soft tissue tumour but the muscle biopsy revealed the typical findings of focal myositis. Focal myositis is a benign inflammatory pseudotumour of the skeletal muscle recognized as a distinct clinicopathological entity, but there have been descriptions of the cases initially diagnosed as focal myositis that have latter behaved as evident polymyositis. We have not found laboratory data to support a diagnosis of polymyositis in our patient. CONCLUSION: Although focal myositis is considered a self-limited disease, we believe a long-term clinical and biochemical follow-up is warranted, to confirm the absence of recurrence signs and/or the development of a generalized myopathy.

[Electroencephalographic alterations in children with attention deficit hyperactivity disorder]. / Alteraciones electroencefalograficas en ni os con trastorno por deficit de atencion con hiperactividad.

INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is a syndrome that affects between 3 5% of the population of school aged children, and may be accompanied by learning, language, behavioural or motor disorders. Although various electroencephalographic alterations have been described in these patients, their pathological significance has not been determined. There have also been reports of children with neuropsychological and language disorders having epileptiform anomalies in the EEG recording. PATIENTS AND METHODS: We conducted a study of 15 children, with no history of seizures, who had been referred to Child Neurology for treatment and who satisfied the criteria for ADHD according to the DSM IV and the ADHRS (attention deficit/hyperactivity rating scale). RESULTS: The EEG recording in the waking state showed significant anomalies in two of our patients (acute spike and wave paroxysmal activity in the left temporoparietal region and spike wave discharges during hyperventilation). The polysomnographic study revealed specific alterations in four children. There was a continuous spike wave trace during slow sleep (CSWS) in one case, paroxysmal activity (slow acute waves, spikes) in the temporoparietal region with secondary generalization or transmission (two cases), and frequent generalized paroxysmal discharges of slow acute waves in all phases of sleep (one case). CONCLUSIONS: The neurophysiological disorders observed in some of our patients could make it necessary to consider performing a night time polysomnographic study in certain cases of ADHD.

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.

Unidad de Neurología Pediátrica del Hospital Universitario Ramón y Cajal / Pediatric Neurology Unit of the Hospital Universitario Ramón y Cajal

La Unidad de Neurología Pediátrica, integrada en el Servicio de Pediatría del Hospital Universitario Ramón y Cajal, con acreditación docente por la Sociedad Española de Neurología Pediátrica, ha desarrollado su actividad trabajando en diferentes patologías neurológicas y adaptándose a las necesidades demandadas actualmente por la sociedad, como son los problemas del neurodesarrollo, la epilepsia o las enfermedades nenromusculares. En este trabajo se resume la labor desarrollada a nivel asistencial, docente e investigador, en los últimos 25 años (AU)

The Pediatric Neurology Unit, integrated in the Pediatric Department of the University Hospital Ramón y Cajal, certified in teaching by the Spanish Society of Pediatric Neurology, has been working in several neurological pathologies taking into account the most demanding needs of the society, such us neurodevelopmental problems, epilepsy or neuromuscular diseases. This Work summarizcs the actuation carried out in medical activity, teaching and research performance over de last 25 years (AU)

[Type C hereditary brachydactyly]. / Braquidactilia hereditaria tipo C.

We report 2 generations with type C hereditary brachydactyly of dominant autosomal inheritance of variable expressiveness. The most characteristic data was the shortening of the middle phalanges of the second, third and fifth finger as well as the first metacarpal. Short stature was observed in three of the patients studied. The goal of this study was aimed at stimulating GH pharmacologically and determining its 24 h physiologic secretion, as well as somatomedin C levels. All the determinations were within the normal range. The deficient growth shown by these patients is a constitutional growth delay, possibly an expression of type C brachydactyly.

[Severe bone malformations in fetal valproic acid disease]. / Malformaciones esqueléticas severas en la fetopatía por ácido valproico.

The dysmorphogenic and teratogenic effects of valproic acid, when administered to pregnant women, have been noted in several reports. We report the case of a 3-month-old infant with multiple congenital anomalies, including severe skeletal malformations, congenital heart defect and facial dysmorphism, whose mother was treated with valproic acid (1000 mg/day) throughout the pregnancy. This is the second published case reporting major skeletal malformations and supports the possible teratogenic effects of valproic acid.

[Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis]. / Displasia septo-óptica: presentación de seis pacientes estudiados mediante RM y discusión de su patogenia.

OBJECTIVE: Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others. PATIENTS AND METHODS: We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred. RESULTS: From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features. CONCLUSIONS: Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.

Alteraciones electroencefalográficas en niños con trastorno por déficit de atención con hiperactividad / Electroencephalographic alterations in children with attention deficit hyperactivity disorder

Introducción. El trastorno por déficit de atención con hiperactividad (TDAH) es una entidad nosológica que afecta al 3-5 por ciento de la población infantil en edad escolar, y puede ir acompañada de trastornos de aprendizaje, de lenguaje, conductuales o motores. Aunque se han descrito diversas alteraciones electroencefalográficas en estos pacientes, no se ha determinado su significación patológica. Por otro lado, se ha referido que los niños con trastornos neuropsicológicos y del lenguaje pueden tener anomalías epileptiformes en el EEG. Pacientes y métodos. Se han estudiado 15 pacientes remitidos a la consulta de Neurología infantil, sin antecedentes de crisis convulsivas, que cumplían los criterios del TDAH según el DSM-IV y la EDAH (escala de déficit de atención con hiperactividad). Resultados. El EEG en vigilia mostró anomalías significativas en dos de nuestros pacientes (actividad paroxística de puntas y ondas agudas en la región temporoparietal izquierda y descargas de punta-onda durante la hiperventilación). En el registro polisomnográfico observamos alteraciones específicas en cuatro niños: un trazado de punta-onda continua durante el sueño lento (POCS) en un caso; actividad paroxística (puntasondas agudas y lentas) en la zona parietotemporal con transmisión o generalización secundaria (dos casos), y frecuentes descargas paroxísticas generalizadas de ondas lentas y agudas en todas las fases del sueño (un caso). Conclusión. Las alteraciones neurofisiológicas observadas en algunos de nuestros pacientes podrían plantear la necesidad de realizar una polisomnografía nocturna en determinados casos de TDAH (AU)

Introduction. Attention deficit hyperactivity disorder (ADHD) is a syndrome that affects between 3-5% of the population of school-aged children, and may be accompanied by learning, language, behavioural or motor disorders. Although various electroencephalographic alterations have been described in these patients, their pathological significance has not been determined. There have also been reports of children with neuropsychological and language disorders having epileptiform anomalies in the EEG recording. Patients and methods. We conducted a study of 15 children, with no history of seizures, who had been referred to Child Neurology for treatment and who satisfied the criteria for ADHD according to the DSM-IV and the ADHRS (attention deficit/ hyperactivity rating scale). Results. The EEG recording in the waking state showed significant anomalies in two of our patients (acute spike and wave paroxysmal activity in the left temporoparietal region and spike-wave discharges during hyperventilation). The polysomnographic study revealed specific alterations in four children. There was a continuous spike-wave trace during slow sleep (CSWS) in one case, paroxysmal activity (slow acute waves, spikes) in the temporoparietal region with secondary generalization or transmission (two cases), and frequent generalized paroxysmal discharges of slow acute waves in all phases of sleep (one case). Conclusions. The neurophysiological disorders observed in some of our patients could make it necessary to consider performing a night-time polysomnographic study in certain cases of ADHD (AU)