ABSTRACT
Resumen: Introducción: La deficiencia del transportador de glucosa tipo 1 constituye un síndrome (SD-GLUT1), provocado por la mutación del gen SLC2A1, que codifica la proteína transportadora de glucosa al encéfalo. Las manifestaciones neurológicas se dan en tres dominios principales: crisis epilépticas, movimientos anormales y alteraciones cognitivas. El diagnóstico se presume ante el hallazgo de hipoglucorraquia y se confirma mediante el análisis molecular del gen. La importancia de precisarlo radica en que tiene tratamiento específico, la dieta cetogénica. Objetivo: Analizar dos casos clínicos de SD-GLUT1 de presentación atípica, destacando la variabilidad del fenotipo. Caso Clínico: Presentamos el caso de dos hermanos cuyas manifestaciones fueron crisis epilépticas de tipo ausencias típicas, y un trastorno paroxístico del movimiento. Los pacientes fueron estudiados encontrándose hipoglucorraquia en ambos y se confirmó diagnóstico de SD-GLUT1 con estudio molecular. El tratamiento específico con dieta cetogénica logró buena respuesta. Conclusiones: Exponemos sus características clínicas peculiares que nos permitieron sospechar este cuadro, de espectro fenotípico amplio, cuyo diagnós tico y tratamiento, correcto y oportuno, puede mejorar significativamente la calidad de vida de los afectados.
Abstract: Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. Objective: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. Clinical Case: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.
Subject(s)
Humans , Male , Female , Child, Preschool , Phenotype , Seizures/etiology , Monosaccharide Transport Proteins/deficiency , Carbohydrate Metabolism, Inborn Errors/diagnosis , Movement Disorders/etiology , Carbohydrate Metabolism, Inborn Errors/complicationsABSTRACT
Hemiballismus, a subtype of chorea, is a rare movement disorder, and is most commonly found secondary to stroke. Movements are involuntary, violent, coarse, and have a wide amplitude. There is increasing report of hemiballismus occurring in non-ketotic hyperglycemia. Spontaneous improvements or remissions were observed in many patients, and treatment should be directed towards the cause of hemiballismus. There is no randomized control trial to guide clinicians in deciding the best treatment option when managing hemiballismus. Symptomatic treatment includes the use of drugs such as dopamine receptor blocker and tetrabenazine. Surgical treatment is reserved for severe, persistent, and disabling hemiballismus. This case is of an elderly woman with long standing uncontrolled diabetes who presented with abnormal movement in her left upper limb for 2 months, which resolved slowly with good control of her glucose levels. Treating physicians need to have a high index of suspicion to prevent mismanagement of the condition.
Subject(s)
Aged , Female , Humans , Chorea , Diabetes Mellitus , Dyskinesias , Glucose , Hyperglycemia , Movement Disorders , Receptors, Dopamine , Stroke , Tetrabenazine , Upper ExtremityABSTRACT
Esta é uma primeira parte (1/2) da abordagem de fundamentos do sono e transtornos do sono (TS) sobre aspectos: neurobiológicos (neuroanatômicos, neuroquímicos e fisiológicos); clínicos (anamnese e exame físico; exames subjetivos - questionários e escalas; exames objetivos - polissonografia, teste de latências múltiplas e actigrafia). É valorizada a terceira Classificação Internacional dos Transtornos do Sono (ICSD-3) para abordar aspectos clínicos, diagnósticos e terapêuticos, segundo as quatro queixas principais referentes dos TS: Insônia, Sonolência excessiva diurna, Movimentos e comportamentos anormais durante o sono e Incapacidade de dormir na hora desejada. Neste artigo abordamos apenas: 1-Insônia - dificuldade em adormecer ou manter-ser dormindo, acordar cedo, ou um distúrbio na qualidade do sono que faz com que o sono pareça inadequado ou não restaurador; duração: aguda ou crônica; 2- Sonolência excessiva diurna; consequente a distúrbios do sono, privação do sono; distúrbios centrais da hipersonia; distúrbios médicos ou psiquiátricos. (AU)
This is the first part (1/2) on this paper about sleep fundamentals and sleep disorders (TS) questions: neurobiological (neuroanatomical, neurochemical and physiological); clinical (anamnesis and physical examination; subjective exams - questionnaires and scales; objective examinations - polysomnography, multiple latency tests and actigraphy). The third International Classification of Sleep Disorders (ICSD-3) is valued to address clinical, diagnostic and therapeutic aspects, according to the four main complaints regarding TS: Insomnia, Excessive daytime drowsiness, Abnormal movements and behaviors during sleep, and Inability to sleep at the desired time. In this paper, it is discussed the only first two: 1-Insomnia: difficulty falling as-leep, staying asleep, early morning waking, non- restorative sleep, quality of sleep, and amount of sleep; duration: acute or chronic. (AU)
Subject(s)
Humans , Sleep Wake Disorders/classification , Sleep Wake Disorders/diagnosis , Sleep Wake Disorders/drug therapy , Polysomnography/methods , Sleep Disorders, Circadian Rhythm/diagnosis , Sleep Initiation and Maintenance Disorders/diagnosis , Sleep Initiation and Maintenance Disorders/drug therapyABSTRACT
Los eventos paroxísticos no epilépticos (EPNE) son una causa frecuente de consulta en pediatría. Constituyen un grupo de movimientos o conductas abruptas, recurrentes y estereotipadas que comprometen la función cerebral con recuperación espontánea a la normalidad. Se revisan las principales maneras de reconocerlos y diagnosticarlos. Palabras Claves: eventos paroxísticos, movimientos anormales, distonía, temblores.
Non-epileptic paroxysmal events (EPNE) are a frequent cause of consultation in Pediatrics. They are a group of abrupt, recurrent and stereotyped movements or behaviors that compromise brain function, with spontaneous recovery. We review the main ways to recognize and diagnose them. Key words: dystonia, paroxysmal events, abnormal movements, jitteriness.
ABSTRACT
Introducción: Las estereotipias han sido descritas en niños con trastornos del desarrollo pero su prevalencia y características en niños con desarrollo madurativo normal no es conocida. Objetivo: Estimar la prevalencia de estereotipias en niños sin enfermedades crónicas y describir sus características clínicas y epidemiológicas Pacientes y Métodos: Estudio de corte transversal. Se aplicó una encuesta a madres de niños recién nacidos hasta niños de 12 años que concurrieron a los consultorios externos con muestreo consecutivo y no aleatori-zado. La encuesta fue analizada previamente en un subgrupo de madres. Resultados: Se completaron 406 encuestas, en el 57 por ciento se refirieron estereotipias y las más frecuentes fueron chuparse los dedos (21,8 por ciento) y comerse las uñas (20 por ciento). El análisis multivariado identificó mayor probabilidad de presentar estereotipias en niños con antecedentes de esterotipia en los padres, situaciones de estrés y madres mayores de 35 años. Conclusión: Las estereotipias tienen una elevada prevalencia en los niños y son más frecuentes en niños con antecedentes familiares de estereotipias, situaciones de estrés y en niños con madres de mayor edad.
Background: Stereotypies have been described in children with developmental disorders but their prevalence and characteristics in developmentally normal children is unknown. Objective: To estimate the prevalence of stereotypies in children without chronic diseases and describe their clinical and epidemiological characteristics. Patients and Methods: A Cross-sectional study was performed. Mothers of children aged from birth to 12 years, who attended the outpatient clinic, answered survey questions. Results: 406 surveys were completed; stereotypies were observed in 57 percent of patients, among the most frequent, finger sucking (21.8 percent) and nail biting (20 percent). A multivariate analysis identified that stereotypies are more likely in children with a history of stereotypy in parents, under stressful environments, and with mothers over 35 years old. Conclusion: Stereo-typies showed a high prevalence in this study, most frequently in those children under stressful environments, mothers older than 35 years, and affected parents.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Stereotyped Behavior , Stereotypic Movement Disorder/epidemiology , Age and Sex Distribution , Analysis of Variance , Cross-Sectional Studies , Developmental Disabilities/epidemiology , Fingersucking , Nail Biting , Prevalence , Surveys and QuestionnairesABSTRACT
El síndrome del muñeco cabeza de resorte es un raro trastorno usualmente descrito en la población pediátrica como resultado de lesiones selares y del tercer ventrículo, especialmente quistes coloides. Su fisiopatología no está bien esclarecida. Se ha planteado que los trastornos del funcionamiento de las aferencias y eferencias hacia el núcleo dorso-medial del tálamo originarían los movimientos y estos permanecerían en el tiempo gracias a fenómenos de aprendizaje. Presentamos un raro caso del síndrome del muñeco cabeza de resorte de una paciente adulta como consecuencia de un quiste aracnoideo selar con extensión paraselar a través de la fisura de Silvio. Se realizaron comunicaciones del quiste hacia las cisternas adyacentes con lo cual se logro control completo de los síntomas tras 48 horas del procedimiento.
Bobble head doll syndrome is a rare disorder usually described in the pediatric population as a result of sellar lesions and the third ventricle, especially colloid cysts. Its pathophysiology is not well understood. It has been suggested that functional disorders of the afferent and efferent system to the dorso-medial nucleus of the thalamus causes of the movement and these remain over time through learning phenomena. We present a rare case of bobble head doll syndrome in an adult patient caused by a sellar arachnoid cyst with parasellar extension through the Sylvian fissure. Communications were made from the cyst into adjacent cisterns thereby achieving complete control of symptoms after 48 hours of the procedure.