[Movement disorders]. / Trastornos del movimiento.

Thanks to the application of modern techniques such as next-generation sequencing in the study of apparently non-inherited encephalopathies it has become possible to describe de novo pathogenic mutations in unsuspected genes and to define the phenotypes of these mutations. Interestingly, in most cases, their clinical signs and symptoms show a spectrum in which epileptic encephalopathy, neurodevelopmental disorder and hyperkinetic abnormal movement disorders overlap. Their pathophysiology is located in synapses (synaptopathies). This article offers a brief summary of these disorders and also includes a simple note, in honour of Dr Natalio Fejerman (1934-2018), on the so-called «benign polymorphic disorder of infancy¼.

TITLE: Trastornos del movimiento.Gracias a la aplicacion de modernas tecnicas como la siguiente secuenciacion (next-generation sequencing) en el estudio de encefalopatias aparentemente no heredadas ha sido posible descubrir mutaciones patogenas de novo en genes insospechados y definir los fenotipos de estas mutaciones. Es interesante que, en la mayoria de los casos, sus cuadros clinicos muestran un espectro en el que se solapan encefalopatia epileptica, trastorno del neurodesarrollo y movimientos anormales de tipo hipercinetico. Su fisiopatologia se localiza en la sinapsis (sinaptopatias). En este articulo se hace una breve sintesis de estos trastornos y se añade una sencilla nota, en honor al Dr. Natalio Fejerman (1934-2018), sobre la base del denominado «trastorno polimorfo benigno del lactante¼.

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.

Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type "B": early onset severe encephalopathy; type "A": later onset, less severe and better response to L-dopa. We aimed to study the expression of several key dopaminergic and gabaergic synaptic proteins in the cerebrospinal fluid (CSF) of a series of patients with TH deficiency and their possible relation with the clinical phenotype and response to L-DOPA. Dopamine transporter (DAT), D2-receptor and vesicular monoamine transporter (VMAT2) were measured in the CSF of 10 subjects with TH deficiency by Western blot analysis. In 3 patients, data of pre- and post-treatment with L-DOPA were available, and in one of them, GABA vesicular transporter was determined. Results were compared to an age-matched control population. The concentration of D2-receptors in CSF was significantly higher in patients with TH deficiency than in controls. Similarly, DAT and vesicular monoamine transporter type 2 were up-regulated. Studies performed before L-DOPA, and on L-DOPA therapy showed a paradoxical response with D2 receptor expression increase as L-Dopa doses and homovanillic concentration gradually raised in a B phenotype patient. The opposite results were found in two patients with A phenotype. However, this is a very small sample, and further studies are needed to conclude robust differences between phenotypes. Synaptic proteins are detectable in the CSF and their quantification can be useful for understanding the pathophysiology of neurotransmitter defects and potentially to adjust and personalize treatments in the future.

Treatment for dystonia in childhood.

Management of childhood dystonia differs in certain respects from that of adult dystonia: (i) childhood dystonia is more often secondary than primary; (ii) mixed motor disorders are frequent; (iii) in children, the course of dystonia may be influenced by ongoing brain maturation and by the remarkable plasticity of the young brain; (iv) drug tolerability and effectiveness can be different in children; (v) the therapeutic strategy must be discussed with both the patient and his or her parents; and (vi) the child's education must be taken into account. Based on a systematic review of the literature through June 2011 and on our personal experience, we propose a therapeutic approach to childhood dystonia. After a detailed clinical evaluation and a comprehensive work-up to rule out a treatable cause of dystonia, symptomatic treatment may include various drugs, local botulinum toxin injections, and deep brain stimulation, in addition to rehabilitation.

Hypokinetic-rigid syndrome in children and inborn errors of metabolism.

Hypokinetic-rigid syndrome (HRS) or "parkinsonism" is rare in children. From a clinical point of view it is characterised by a group of signs in which hypokinesia (decreased number of movements), bradykinesia (slowness of movements), rigidity and rest tremor are the fundamental traits. Nervous system infections, immunomediated encephalitis, hypoxia and some drugs have been described as acquired or secondary causes of HRS in the paediatric age. Inborn errors of metabolism (IEM) comprise and important group regarding genetic causes. Main diseases causing HRS in children are neurotransmitter (biogenic amines) defects, metal storage diseases, energy metabolism disorders and lysosomal diseases. In general, in IEM, the HRS is associated to other neurological signs such as dykinesias, pyramidal signs, and psychomotor delay, is very rare in the neonatal period, tends to be more frequent in advanced stages of progressive diseases, and may respond to specific therapies. In particular, l-dopa + carbidopa can be a very effective treatment in neurotransmitter defects, whereas other disorders such as Wilson disease and some particular lysosomal disorders have different therapeutic possibilities. Furthermore, other genetic conditions in dopa-responsive and non-responsive HRS should be also considered, especially in juvenile parkinsonism. Through this review, a practical orientation for paediatric neurologists concerning clinical clues, diagnostic procedure and treatment of metabolic HRS will be provided.

Dystonia. The paediatric perspective.

BACKGROUND AND AIMS: This review focuses on some paediatric dystonias such as transient dystonias, new primary paediatric-onset dystonias, dopamine biosynthesis defects and new paroxysmal disorders. It is designed to provide practical help for neurologists and neuropediatricians to make appropriate diagnoses and plan the management of these disorders. MATERIAL AND METHODS: Literature searches were performed and original papers, meta-analyses and review papers were reviewed. CONCLUSION: Paediatric onset dystonia is an increasingly interesting group of conditions that provides an expanding area of neuroscientific knowledge. Given the long life expectancy of children, appropriate treatment at the correct moment will have an important, lasting effect on the personal, social and healthcare domains.

Trastornos del movimiento no epilépticos en la infancia / Non-epileptic movement disorders in childhood

Los trastornos paroxísticos son alteraciones episódicas con normalidad intercrítica. Pueden ser epilépticos y no epilépticos y se acompañan habitualmente de movimientos anómalos. Los trastornos paroxísticos (en gran parte el diagnóstico diferencial de la epilepsia), suponen uno de los capítulos más amplios de la Neuropediatría en la frecuencia de la demanda, por la gran variedad de problemas que plantean y por la trascendencia de muchos de ellos. El diagnóstico diferencial de los trastornos paroxísticos incluye reacciones vagales, síndromes suboclusivos intestinales o problemas que plantean riesgo vital, como los síncopes cardíacos. El diagnóstico erróneo de epilepsia supone hacer asumir un diagnóstico y tratamiento equivocados y no apurar la estrategia diagnóstica para descartar otras patologías, algunas de ellas de gran trascendencia, incluso vital. Con frecuencia el diagnóstico se obtiene por una minuciosa anamnesis de los episodios o la visualización en vídeo de los episodios. Debe insistirse en la historia familiar y debe preguntarse por la toma de fármacos. Cuando el diagnóstico es claro, no es necesaria la realización de exámenes complementarios. Pueden estar indicadas analíticas para descartar causas de crisis sintomáticas u otros trastornos del movimiento, como la tetania hipocalcémica. En algunos casos es obligatorio el estudio cardiológico. Es aconsejable en muchos casos la realización de un electroencefalograma (EEG). La neuroimagen, especialmente la resonancia magnética cerebral, está indicada en el estudio de la epilepsia y se debe realizar para descartar otras patologías en algunos TPNE como las disquinesias paroxísticas o el síndrome de hemiplejías alternantes. La mayoría de los TPNE no tienen tratamiento específico (AU)

Paroxysmal disorders are episodic events with normality between crisis. These can be epileptic or non-epileptic, and are usually accompanied by abnormal movements. The study of paroxysmal disorders (and the differential diagnosis of epilepsy) is one of the widest fields of Neuropaediatrics, due to the high number of referrals and the variety of problems and consequences that it brings. The differential diagnosis of paroxysmal disorders include vagal reactions, subocclusive syndrome due to intestinal malrotation or life threatening problems such as cardiac syncope. The erroneous diagnosis of epilepsy means accepting the wrong diagnosis and treatment and failing to rule out other pathologies that could be life threatening..The diagnosis of PNEs is generally based on a careful anamnesis or video images of the episodes. Family history and details of medication used must be queried. When the diagnosis is clear, no complementary examinations are necessary. Specific analysis can be indicated to rule out symptomatic causes or other movement disorders, such as hypocalcaemic tetany. In many cases EEG is well-advised. Brain imaging, particularly MRI is required in the study of epilepsy and to rule out others pathologies in PNEs such as paroxistic dyskinesias or the alternating hemiplegia syndrome. Most of the PNEs have no specific treatment (AU)

Inborn errors of metabolism and motor disturbances in children.

Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism. A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological responses of gross and fine motor functions. A series of investigations are presented with the primary aim of early diagnosis of treatable conditions. The correct recognition and differentiation of movement disorders (ataxia, rigid akinetic syndrome (Fparkinsonism_), dystonia, athetosis, tremor,and others), spasticity, and neuromuscular disorders, requires profound neurological expertise. A high level of suspicion and close interaction between paediatric neurologists and specialists in inborn errors of metabolism are indispensable to effectively and timely identify patients in whom motor disturbances are the presenting and/or main symptom of an inborn error.

[Pharmacological preconditioning with sildenafil of warm ischemic kidneys]. / Precondicionamiento farmacológico con sildenafilo del riñón con isquemia normotérmica.

OBJECTIVES: To evaluate the preconditioning effect of sildenafil administered preoperatively in kidneys subjected to a period of warm ischemia (WI), hypothermic perfusion (HP) or cold storage (CS) and finally, autotransplant (AT). MATERIAL AND METHOD: We studied 6 groups of autotransplanted kidneys: no-WI-inmediate AT (Group A); 45 min of WI + immediate AT (Group B); 45 min of WI + 60 min of HP + autotransplant (Group C); 45 min of WI + 60 min of CS + autotransplant (Group D); 100 mg of oral sildenafil preoperatively + 45 min of WI + autotransplant (Group E); 100 mg of oral sildenafil preoperatively + 45 min of WI+60 min of HP + autotransplant (Group F). Belzer solution was used for HP; UW-Viaspan for CS. Inmediately after the autotransplant (reperfusion period), we recorded in real time for 60 min the values of Renal vascular Flow (RVF) and Renal Vascular Resistance (RVR). Nitric Oxide levels in the cava and renal graft vein were recorded every 15 min during the 60 min of the reperfusion-study period. Conventional & Electronic microscopy were completed after the process. RESULTS: We obtained significant higher values of RVF and lower values of RVR in sildenafil groups (E and F) in comparison to the other groups (A-D) (Table 1). NO levels were also significantly higher in groups E and F (Fig. 1). Groups A, B, E and F showed integrity of tubule and endothelium in comparison to groups C and D in the microscopic study. CONCLUSIONS: We showed a beneficious effect of sildenafil in inmediate post-transplant reperfusion hemodynamic and biochemical parameters of kidneys subjected to a critical period of warm-ischemia.

Precondicionamiento farmacológico con sildenafilo del riñón con isquemia normotérmica / Pharmacological preconditioning with sildenafil of warm ischemic kidneys

Objetivos: Evaluar el posible efecto pre-condicionador de sildenafilo en riñones sometidos a isquemia normotérmica, perfusión hipotérmica y posterior autotrasplante. Material y Métodos: Estudiamos 6 grupos de órganos autotrasplantados: control sin isquemia y autotrasplante inmediato (grupo A); control con 45 min de isquemia y autotrasplante inmediato (grupo B); isquemia + perfusión del órgano en bomba y autotrasplante (grupo C); isquemia + conservación mediante hipotermia simple en solución UW y autotrasplante (grupo D); 100 mg vo sildenafilo preoperatorio+isquemia+perfusión en bomba y autotrasplante (grupo D); 100 mg vo sildenafilo preoperatorio+ isquemia+ autotrasplante inmediato (grupo E). Evaluamos durante los 60 minutos de reperfusión postrasplante los valores medios de flujo vascular renal (FVR), resistencia vascular renal (RVR), presión arterial sistémica (PAS) y concentración de óxido nítrico en vena del injerto renal (ON). Realizamos estudio histológico mediante microscopia electrónica y convencional en todos los casos. Resultados: Obtuvimos unos valores medios de flujo vascular renal (FVR) mayores, resistencia vascular renal menor (RVR) y concentraciones de óxido nítrico en vena del injerto (ON) mayores en los primeros 60 min de reperfusión renal postrasplante en los grupos E y F frente a A,B,C y D (Tabla 1, Fig. 1). Desde el punto de vista histológico, los órganos sometidos a trasplante sin isquemia, perfundidos tras la isquemia o tratados preoperatoriamente con sildenafilo mostraron integridad túbulo-endotelial en los estudios microscópicos. Conclusiones: Mostramos, por primera vez en la literatura específica, un efecto beneficioso de sildenafilo en los parámetros obtenidos en la reperfusión postrasplante en los riñones sometidos a isquemia normotérmica durante un periodo crítico

Objectives. To evaluate the preconditioning effect of sildenafil administered preoperatively in kidneys subjected to a period of warm ischemia (WI), hypothermic perfusion (HP) or cold storage (CS) and finally, autotransplant (AT). Material and method. We studied 6 groups of autotransplanted kidneys: no-WI-inmediate AT (Group A); 45 min of WI + immediate AT (Group B); 45 min of WI + 60 min of HP + autotransplant (Group C); 45 min of WI + 60 min of CS + autotransplant (Group D); 100 mg of oral sildenafil preoperatively + 45 min of WI + autotransplant (Group E); 100 mg of oral sildenafil preoperatively + 45 min of WI+60 min of HP + autotransplant (Group F). Belzer solution was used for HP; UW-Viaspan for CS. Inmediately after the autotransplant (reperfusion period), we recorded in real time for 60 min the values of Renal vascular Flow (RVF) and Renal Vascular Resistance (RVR). Nitric Oxide levels in the cava and renal graft vein were recorded every 15 min during the 60 min of the reperfusion-study period. Conventional & Electronic microscopy were completed after the process. Results. We obtained significant higher values of RVF and lower values of RVR in sildenafil groups (E and F) in comparison to the other groups (A-D) (Table 1). NO levels were also significantly higher in groups E and F (Fig. 1). Groups A, B, E and F showed integrity of tubule and endothelium in comparison to groups C and D in the microscopic study. Conclusions. We showed a beneficious effect of sildenafil in inmediate post-transplant reperfusion hemodynamic and biochemical parameters of kidneys subjected to a critical period of warm-ischemia

Secondary abnormalities of neurotransmitters in infants with neurological disorders.

Neurotransmitters are essential in young children for differentiation and neuronal growth of the developing nervous system. We aimed to identify possible factors related to secondary neurotransmitter abnormalities in pediatric patients with neurological disorders. We analyzed cerebrospinal fluid (CSF) and biogenic amine metabolites in 56 infants (33 males, 23 females; mean age 5.8mo [SD 4.1mo] range 1d-1y) with neurological disorders whose aetiology was initially unknown. Patients were classified into three clinical phenotypes: epileptic encephalopathy, severe motor impairment, and non-specific manifestations. All patients showed normal results for screening of inborn errors of metabolism. We report clinical, neuroimaging, and follow-up data. Among the patients studied, 10 had low homovanillic acid (HVA) levels and in four patients, 5-hydroxyindoleacetic acid (5-HIAA) was also reduced. Patients with neonatal onset had significantly lower levels of HVA than a comparison group. HVA deficiency was also associated with severe motor impairment and the final diagnosis related to neurodegenerative disorders. 5-HIAA values tended to be decreased in patients with brain cortical atrophy. The possibility of treating patients with L-Dopa and 5-hydroxytryptophan, in order to improve their neurological function and maturation, may be considered.

Palatal tremor in childhood: clinical and therapeutic considerations.

Palatal tremor (PT) is a rhythmic movement of the soft palate that often causes an ear click. PT can be symptomatic (SPT) or essential (EPT). The symptomatic form usually occurs in adults and the essential form mainly occurs in children. Several different treatments for EPT in children appear in the literature with variable reported efficacy. This report details four paediatric patients with EPT (three males, one female; mean age 6y 4mo [SD 6mo]; age at onset 6-7y) treated with piracetam (2-oxo-1-pyrrolidine acetamide). Piracetam was used to treat EPT because of its antimyoclonic properties. All children showed a good response to doses of 100 to 300mg/kg/day. EPT relapsed on withdrawal of piracetam and remitted on reintroduction. Piracetam's effect on EPT was sustained. It is concluded that piracetam is an effective drug for the treatment of EPT in children.

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

BACKGROUND: Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and molecular findings in 27 patients. METHODS: The authors collected data from questionnaires and literature reports. A score including degree of intellectual disability, epileptic seizures, and movement disorder was developed and used to classify clinical phenotype as severe, moderate, or mild. Score and biochemical data were assessed before and during treatment with oral creatine substitution alone or with additional dietary arginine restriction and ornithine supplementation. RESULTS: Intellectual disability, epileptic seizures, guanidinoacetate accumulation in body fluids, and deficiency of brain creatine were common in all 27 patients. Twelve patients had severe, 12 patients had moderate, and three patients had mild clinical phenotype. Twenty-one of 27 (78%) patients had severe intellectual disability (estimated IQ 20 to 34). There was no obvious correlation between severity of the clinical phenotype, guanidinoacetate accumulation in body fluids, and GAMT mutations. Treatment resulted in almost normalized cerebral creatine levels, reduced guanidinoacetate accumulation, and in improvement of epilepsy and movement disorder, whereas the degree of intellectual disability remained unchanged. CONCLUSION: Guanidinoactetate methyltransferase deficiency should be considered in patients with unexplained intellectual disability, and urinary guanidinoacetate should be determined as an initial diagnostic approach.

A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force.

To review the literature on primary dystonia and dystonia plus and to provide evidence-based recommendations. Primary dystonia and dystonia plus are chronic and often disabling conditions with a widespread spectrum mainly in young people. Computerized MEDLINE and EMBASE literature reviews (1966-1967 February 2005) were conducted. The Cochrane Library was searched for relevant citations. Diagnosis and classification of dystonia are highly relevant for providing appropriate management and prognostic information, and genetic counselling. Expert observation is suggested. DYT-1 gene testing in conjunction with genetic counselling is recommended for patients with primary dystonia with onset before age 30 years and in those with an affected relative with early onset. Positive genetic testing for dystonia (e.g. DYT-1) is not sufficient to make diagnosis of dystonia. Individuals with myoclonus should be tested for the epsilon-sarcoglycan gene (DYT-11). A levodopa trial is warranted in every patient with early onset dystonia without an alternative diagnosis. Brain imaging is not routinely required when there is a confident diagnosis of primary dystonia in adult patients, whereas it is necessary in the paediatric population. Botulinum toxin (BoNT) type A (or type B if there is resistance to type A) can be regarded as first line treatment for primary cranial (excluding oromandibular) or cervical dystonia and can be effective in writing dystonia. Actual evidence is lacking on direct comparison of the clinical efficacy and safety of BoNT-A vs. BoNT-B. Pallidal deep brain stimulation (DBS) is considered a good option, particularly for generalized or cervical dystonia, after medication or BoNT have failed to provide adequate improvement. Selective peripheral denervation is a safe procedure that is indicated exclusively in cervical dystonia. Intrathecal baclofen can be indicated in patients where secondary dystonia is combined with spasticity. The absolute and comparative efficacy and tolerability of drugs in dystonia, including anticholinergic and antidopaminergic drugs, is poorly documented and no evidence-based recommendations can be made to guide prescribing.

[Inborn errors of neurotransmitters in neuropaediatrics]. / Errores congénitos de los neurotransmisores en Neuropediatría.

AIMS: The aim of this work is to describe the clinical, biochemical and genetic characteristics of neurotransmitter diseases at the paediatric age, together with possible forms of treatment. We also sought to determine the diagnostic methodology of these disorders (collection and analysis of samples). DEVELOPMENT: These diseases essentially consist of a deficit of biogenic amines and alterations in GABA metabolism (gamma-aminobutyric acid). Disorders affecting the neurotransmission of biogenic amines often present in the form of hypokinesia, trunk hypotonia with increased limb tone, oculogyric crises, ptosis, faulty temperature regulation or abnormal movements. Defects in GABA metabolism give rise to epileptic encephalopathies and unspecific mental retardation, sometimes associated to signs of cerebellar dysfunction, convulsions and alterations in neuroimaging studies. Overall incidence of these diseases is low but they are unquestionably under-diagnosed, since they cannot be detected by conventional studies in plasma and urine, and require extraction and directed analysis of cerebrospinal fluid (CSF) for their detection. Additionally, the CSF study must be carried out in specific standardised conditions. Segawa's disease, or dopa-responsive dystonia, responds extremely well to therapy, whereas the other entities respond in varying ways to the different therapeutic alternatives. CONCLUSIONS: It is important for the paediatrician to know about these entities as a group of treatable neurometabolic diseases. Moreover, their detection would allow prenatal diagnosis in the vast majority of cases.

Errores congénitos de los neurotransmisores en Neuropediatría / Inborn errors of neurotransmitters in neuropaediatrics

Objetivo. Describir las características clínicas, bioquímicasy genéticas de las enfermedades de los neurotransmisoresen la edad pediátrica, así como las posibilidades terapéuticas.Determinar la metodología diagnóstica de estos trastornos (recogiday análisis de muestras). Desarrollo. Estas enfermedades comprendenbásicamente déficit de las aminas biógenas y alteracionesdel metabolismo del GABA (ácido ã-aminobutírico). Los trastornosde la neurotransmisión de las aminas biógenas se presentangeneralmente en forma de hipocinesia, hipotonía troncal con aumentodel tono en las extremidades, crisis oculogíricas, ptosis,desregulaciones de la temperatura o movimientos anormales. Losdefectos del metabolismo del GABA producen encefalopatías epilépticasy retraso mental inespecífico, asociado en ocasiones asignos de disfunción cerebelosa, convulsiones y alteraciones en laneuroimagen. La incidencia global de estas enfermedades es baja,pero sin duda se infradiagnostican, dado que no pueden detectarsemediante estudios convencionales en plasma y orina, y se requierede la extracción y análisis dirigido del líquido cefalorraquídeo(LCR) para su detección. El estudio del LCR debe realizarse,además, en unas determinadas condiciones estandarizadas. Laenfermedad de Segawa o distonía dopasensible presenta una respuestaexcelente al tratamiento, mientras que el resto de las entidades responden de manera variable a las diferentes alternativasterapéuticas. Conclusiones. Es importante que el neuropediatraconozca estas entidades como un grupo de enfermedades neurometabólicastratables. Su detección, además, permitiría la realizaciónde un diagnóstico prenatal en la gran mayoría de los casos

Aims. The aim of this work is to describe the clinical, biochemical and genetic characteristics of neurotransmitterdiseases at the paediatric age, together with possible forms of treatment. We also sought to determine the diagnosticmethodology of these disorders (collection and analysis of samples). Development. These diseases essentially consist of adeficit of biogenic amines and alterations in GABA metabolism ( ã-aminobutyric acid). Disorders affecting the neurotransmissionof biogenic amines often present in the form of hypokinesia, trunk hypotonia with increased limb tone, oculogyriccrises, ptosis, faulty temperature regulation or abnormal movements. Defects in GABA metabolism give rise to epilepticencephalopathies and unspecific mental retardation, sometimes associated to signs of cerebellar dysfunction, convulsions andalterations in neuroimaging studies. Overall incidence of these diseases is low but they are unquestionably under-diagnosed,since they cannot be detected by conventional studies in plasma and urine, and require extraction and directed analysis ofcerebrospinal fluid (CSF) for their detection. Additionally, the CSF study must be carried out in specific standardisedconditions. Segawa’s disease, or dopa-responsive dystonia, responds extremely well to therapy, whereas the other entitiesrespond in varying ways to the different therapeutic alternatives. Conclusions. It is important for the paediatrician to knowabout these entities as a group of treatable neurometabolic diseases. Moreover, their detection would allow prenatal diagnosisin the vast majority of cases

[Movement disorders of functional origin (psychogenic) in children]. / Trastornos del movimiento de origen funcional (psicogénicos) en el niño.

PATIENTS AND METHODS: Sixteen cases of functional (psychogenic) pediatric movement disorders (PMD) have been analyzed. They represents 2.4% of a PMD personal series (age of onset less than 18). RESULTS: Apart from a case, age of onset was older than 10 years. 81% (13/16 cases) were females. Tremor (68%) was the predominant abnormal movement followed by mioclonus. These facts are according with the scarce studies reported of functional PMD. We emphasize the diagnostic difficulties of this kind of conditions. CONCLUSIONS: Diagnostic clues are age of onset older than 10 years, female gender, clinical inconsistency of the movement, increasing or decreasing of the movements with attention to the movements or distraction, normality of the exams including neurophysiological studies. However in some cases a follow-up is necessary to confirm the diagnosis.

Uso de risperidona en el síndrome de Tourette / Risperidone in the treatment of Tourette syndrome

Introducción: El uso de neurolépticos clásicos en el síndrome de Tourette (ST) se ve limitado por sus efectos secundarios, especialmente la discinesia tardía. Estudios recientes muestran la risperidona como un fármaco eficaz con un perfil benigno de efectos adversos. Objetivos: Analizar en nuestro ámbito el empleo de risperidona en el ST y evaluar su eficacia y tolerabilidad. Material y métodos: Revisión retrospectiva de siete pacientes con ST tratados con risperidona, controlados en el Servicio de Neurología del Hospital «Sant Joan de Déu-Clínic» de Barcelona. Resultados: La edad media de comienzo del síndrome es de 5,7 años. Cuatro asocian otros trastornos neuropsiquiátricos, principalmente, el trastorno por déficit de atención con hiperactividad (TDAH). Cinco habían recibido tratamiento neuroléptico previo (tres con haloperidol). Existe mejoría de los tics en cuatro casos y de la comorbilidad en dos. Cuatro refieren efectos adversos, siendo el aumento de peso el más prevalente. Hasta día de hoy, ninguno ha presentado discinesia tardía. Conclusiones: La risperidona se muestra como fármaco eficaz en el tratamiento del ST. Sus efectos adversos suelen ser bien tolerados, con baja incidencia de síntomas extrapiramidales (EPS), por lo que parece una alternativa válida en el tratamiento de los niños con ST

Introduction: The use of typical neuroleptic agents in Tourette syndrome (TS) is limited by their troublesome side effects such as tardive dyskinesia. Recent studies have suggested that risperidone may be an efficacious and safe drug in the treatment of this syndrome. Objectives: To analyze the use of risperidone in TS in our hospital and to evaluate its efficacy and tolerability. Material and methods: We carried out a retrospective review of the seven TS patients treated with risperidone in our Neurology Department. Results: The mean age at onset was 5.7 years. Four patients presented comorbid neuropsychiatric conditions, most frequently attention-deficit hyperactivity disorder (ADHD). Five children had received neuroleptics previously (haloperidol in three cases). Tics improved in four patients and the comorbid disorders in two. Four children developed side effects, weight gain being the most prevalent. No patient has developed tardive dyskenesia. Conclusions: Risperidone shows efficacy in the treatment of TS. Its side effects are generally well tolerated. Extrapyramidal symptoms are infrequent. Consequently, risperidone may be a useful alternative in the treatment of children with TS

Trastornos del movimiento de origen funcional (psicogénicos) en el niño / Movement disorders of functional origin (Psychogenic) in children

Pacientes y métodos. Se recogen 16 casos de trastornos del movimiento de origen funcional en niños y adolescentes menores de 18 años. Corresponden al 2,4% de una serie personal de trastornos del movimiento en sujetos menores de 18 años. Resultados. La edad de inicio tuvo lugar, excepto en un caso, a partir de los 10 años. El 81% (13 de 16 casos) eran de sexo femenino. El temblor constituía el tipo de movimiento anormal más frecuente (68%), seguido de mioclonía. Estos datos concuerdan con los escasos estudios de trastorno del movimiento funcionales informados. Se enfatizan las dificultades diagnósticas de esta patología. Conclusiones. Las claves diagnósticas son, además de la edad y sexo, las incongruencias entre las manifestaciones clínicas, las inconsistencias entre los signos clínicos, las variaciones de su expresión según el sujeto se sienta observado o no, y la normalidad en las exploraciones complementarias, que incluyen estudios neurofisiológicos. Sin embargo, en ciertos casos es necesario un seguimiento para confirmar el diagnóstico (AU)

Patients and methods. Sixteen cases of functional (psychogenic) pediatric movement disorders (PMD) have been analyzed. They represents 2.4% of a PMD personal series (age of onset less than 18). Results. Apart from a case, age of onset was older than 10 years. 81% (13/16 cases) were females. Tremor (68%) was the predominant abnormal movement followed by mioclonus. These facts are according with the scarce studies reported of functional PMD. We emphasize the diagnostic difficulties of this kind of conditions. Conclusions. Diagnostic clues are age of onset older than 10 years, female gender, clinical inconsistency of the movement, increasing or decreasing of the movements with attention to the movements or distraction, normality of the exams including neurophysiological studies. However in some cases a follow-up is necessary to confirm the diagnosis (AU)

[Primary versus secondary stereotypic movements]. / Estereotipias primarias frente a estereotipias secundarias.

Stereotypic movements are repetitive patterns of movements whose physiopathology and relations to other neurobehavioural disorders are still only poorly understood. In this paper our aim is to distinguish between primary stereotypic movements, which are the sole manifestation of an anomaly, while the complementary examinations, except for those involving molecular genetics, are normal; associated stereotypic movements, when they meet primary disorder criteria but there are other coexisting independent neurological signs, that is to say, they are neither the cause nor the consequence of the movement disorder; and secondary stereotypic movements, when they are the consequence of a lesion or acquired neurological dysfunction. Examples of primary stereotypic movements include episodes of parasomnia, such as head rocking, in subjects who are otherwise normal, and stereotypic movements due to emotional disorders, severe environmental deprivation or in institutionalised infants. Examples of associated stereotypic movements are those observed in Rett syndrome, in subjects with sensory defects or with mental retardation due to a variety of causes. And as instances of secondary stereotypic movements we have those that can be seen in infinite like syndrome caused by congenital cerebellar lesions. The purpose of the classification is to lay the foundations for the identification of new syndromes, which would without a doubt facilitate research into their physiopathology, their aetiology and the possible therapeutic attitude to be adopted.