[Non-epileptic motor paroxysmal phenomena in wakefulness in childhood]. / Fenómenos paroxísticos no epilépticos motores en vigilia en la infancia.

Paroxysmal events in childhood are a challenge for pediatric neurologists, given its highly heterogeneous clinical manifestations, often difficult to distinguish between phenomena of epileptic seizure or not. The non-epileptic paroxysmal episodes are neurological phenomena, with motor, sensory symptoms, and/or sensory impairments, with or without involvement of consciousness, epileptic phenomena unrelated, so no electroencephalographic correlative expression between or during episodes. From the clinical point of view can be classified into four groups: motor phenomena, syncope, migraine (and associated conditions) and acute psychiatric symptoms. In this paper we analyze paroxysmal motor phenomena in awake children, dividing them according to their clinical manifestations: extrapyramidal episodes (paroxysmal kinesiogenic, non kinesiogenic and not related to exercise dyskinesias, Dopa responsive dystonia) and similar symptoms of dystonia (Sandifer syndrome); manifestations of startle (hyperekplexia); episodic eye and head movements (benign paroxysmal tonic upward gaze nistagmus deviation); episodic ataxia (familial episodic ataxias, paroxysmal benign vertigo); stereotyped and phenomena of self-gratification; and myoclonic events (benign myoclonus of early infancy). The detection of these syndromes will, in many cases, allow an adequate genetic counseling, initiate a specific treatment and avoid unnecessary additional studies. Molecular studies have demonstrated a real relationship between epileptic and non-epileptic basis of many of these entities and surely the identification of the molecular basis and understanding of the pathophysiological mechanisms in many of them allow us, in the near future will benefit our patients.

TITLE: Fenomenos paroxisticos no epilepticos motores en vigilia en la infancia.Los eventos paroxisticos en la infancia son un desafio para los neuropediatras por sus manifestaciones clinicas altamente heterogeneas, muchas veces dificiles de diferenciar entre fenomenos de origen epileptico o no epileptico. Los fenomenos paroxisticos no epilepticos son fenomenos neurologicos, episodicos, con sintomas motores, sensitivos o sensoriales, con o sin afectacion de la conciencia, no relacionados a fenomenos epilepticos, por lo cual no tienen correlato de expresion electroencefalografica entre o durante los episodios. Desde el punto de vista clinico, podemos clasificarlos en cuatro grandes grupos: fenomenos motores, sincopes, migraña (y condiciones asociadas) y cuadros psiquiatricos agudos. En este trabajo se analizan los fenomenos paroxisticos motores en vigilia, dividiendolos de acuerdo a sus manifestaciones clinicas en: episodios extrapiramidales (discinesias paroxisticas cinesiogenicas, no cinesiogenicas y relacionadas con el ejercicio, distonia sensible a levodopa) y cuadros simil distonia (sindrome de Sandifer); manifestaciones de sobresalto (hiperecplexia); movimientos episodicos oculares y cefalicos (desviacion tonica paroxistica de la mirada hacia arriba); ataxia episodica (ataxias episodicas autosomicas familiares y vertigo paroxistico benigno); estereotipias y fenomenos de autogratificacion; y eventos mioclonicos (mioclonias benignas de la infancia temprana). La deteccion de estos sindromes permitira, en muchos casos, realizar un asesoramiento genetico adecuado, instaurar un tratamiento especifico y evitar estudios complementarios innecesarios. Los estudios moleculares han demostrado una relacion entre las bases epilepticas y no epilepticas en muchas de estas entidades. Seguramente la identificacion de los aspectos moleculares y la comprension de los mecanismos fisiopatologicos de muchas de ellas permitiran en un futuro no muy lejano tratamientos especificos que beneficiaran a los pacientes.

Electrophysiological characteristics in four patients from Brazil with stiff person syndrome.

Stiff person syndrome (SPS) is a rare immune-mediated disorder of the central nervous system characterized by muscle rigidity and episodic muscle spasms. The diagnosis of SPS is based on electrophysiological studies. We analyzed the electrophysiological features in four patients from Brazil who fulfilled the clinical criteria for SPS. The most common electrophysiological abnormalities were continuous motor unit activity, co-contracting, and the presence of the cutaneomuscular reflex. Despite all patients having clinical characteristics of SPS during the disease, no patient met all the electrophysiological criteria for SPS even after repeat electrophysiological studies. This shows that a diagnosis of SPS should not be restricted to patients with all the classic electrophysiological changes but should be considered in the presence of one or some of those changes.

Focal stiff-person syndrome.

Stiff-person syndrome (SPS) is a disorder of motor function characterized by rigidity of axial musculature and fluctuating painful spasms, which are often induced by startle or emotional stimuli. Neurophysiological studies have demonstrated the presence of continuous motor unit activity in muscle at rest, with abnormally enhanced extereoceptive reflexes. Although criteria for the diagnosis of SPS were proposed, several variants of this syndrome have been described before. In this communication, we report the case of a patient with a focal form of SPS. A 39-year-old woman developed progressive instability in her gait, spasms and stiffness restricted to both legs. The electromyographic examination showed continuous motor unit activity of the affected muscles at rest. Moreover, high anti-GAD antibodies titers were found in CSF and serum. Clinical symptoms, electrophysiological and immunological profiles suggest a focal form of SPS. Clinical and immunological findings indicate that SPS is a heterogeneous disease, suggesting the need to redefine its diagnostic criteria. Definition of the range of clinical expression and immunological profiles could be important for the clinical management of these patients.

Tratamiento conservador del síndrome de hombro rígido: experiencia con técnica de mio-relajación selectiva / Conservative treatment for rigid shoulder: experience with the technique of selective mio-relaxation

El objetivo del presente trabajo de investigación es demostrar la utilidad de la técnica de mio-relajación selectiva en el tratamiento conservador del síndrome de hombro rígido. Se diseño un ensayo clínico no controlado, ya que no fue posible aleatorizar la muestra, se trataron pacientes con síndrome de hombro rígido mediante la técnica de bloqueo interescalénico con la infiltración de una mezcla de bupivacaína y agua bidestilada. Se realizaron mediciones del grado de dolor y del incremento en los arcos de movimiento después del procedimiento; se estimaron frecuencias, porcentajes y promedio. Se trataron 70 pacientes, 42 femeninos y 28 masculinos; después del procedimiento 39 pacientes se reportaron asintomáticos y los 31 restantes con algún grado de dolor, todos los pacientes mejoraron, la recuperación en la movilidad fue excelente en 32 casos. El bloqueo interescalénico asociado a la movilización activa asistida, mostró ser un método adecuado en el tratamiento del síndrome de hombro rígido

Syndrome of continuous muscle fiber activity. Case report with 11-year follow-up.

A 16-year-old male patient who presented with muscle stiffness and dysphonia is described. Electromyography revealed continuous motor activity that was unaffected by peripheral nerve block or general anaesthesia, but was abolished by curare. The patient had a marked improvement after using phenytoin. The follow-up 11-years later corroborates with the proposed benignity of this syndrome, in spite of being dependent on medication.

Syndrome of continuous muscle fiber activity: case report with 11-year follow-up

É relatado o caso de um paciente de 16 anos de idade do sexo masculino com quadro de rigidez muscular e disfonia. Eletromiografia revelou atividade motora contínua que näo era alterada por bloqueio do nervo periférico ou anestesia geral, mas era abolida por curare. O paciente apresentou acentuada melhora após o uso de fenitoína. O seguimento do caso 11 anos mais tarde vem corroborar o proposto caráter benigno desta síndrome, apesar de o paciente ainda depender da medicaçäo

"Stiff-Man syndrome"associada a poliendocrinopatia autoimune : relato de um caso / Stiff-man syndrome associated with autoimune polyndocrinopathy : report of a case

Os autores relatam o caso de uma paciente de 29 anos, parda, portadora de "stiff-man syndrome" (SMS) associada a poliendocrinopatia do tipo II (moléstia de Basedow-Graves, diabetes mellitus tipo I e tiroidite de Hashimoto). A primeira endocrinopatia foi a doença de Graves que surgiu aos 12 anos e entrou em remissao após um período de tratamento clínico. As manifestaçoes de SMS surgiram há 5 anos, com enrijecimento e espasmos dolorosos dos músculos axiais, e hipertrofia de deltóide e trapézio, tendo desenvolvido diabetes mellitus insulino-dependente (DMI) 2 anos após SMS. Há 1 ano apresentou também hipotiroidismo subclínico (tiroidite de Hashimoto). Foram detectados anticorpos anti-decarboxilase do ácido glutâmico (anti-GAD) no líquor e no soro da paciente, o que confirma o diagnóstico de SMS. Estes autoanticorpos estao voltados contra uma proteína de massa molecular 64 Kd (GAD) e têm sido detectados em 80 por cento dos pacientes com DMI. Pacientes com SMS apresentam alta prevalência desses autoanticorpos e uma grande associaçao com DMI. Na paciente descrita foi possível detectar autoanticorpos contra vários tecidos alvo (tiróide, pâncreas e neurônios GABA-érgicos). Neste relato discute-se os critérios diagnósticos, a fisiopatologia da SMS e os mecanismos imunológicos que levam ao DMI nesta síndrome.