Autismo y catatonía - Aspectos clínicos / Autism and catatonia - Clinical aspects

Resumen El autismo es un desorden del neurodesarrollo caracterizado por una alteración cualitativa en la interacción social y la comunicación, asociada a intereses restringidos y conductas estereotipadas. Puede asociarse a problemas médicos como epilepsia, disfunciones gastrointestinales, trastornos de sueño, otros trastornos del neurodesarrollo como deterioro del lenguaje, discapacidad intelectual, disfunciones sensoriales, TDA/H, torpeza motriz y/o trastornos neuropsiquiátricos como ansiedad, depresión, catatonia, esquizofrenia, trastornos obsesivo-compulsivo, trastornos de conducta e impulsividad, entre otros. La catatonía es reconocida como un síndrome neuropsiquiátrico identificado en todos los trastornos psicóticos y del estado de ánimo mayor, debido a condiciones médicas generales o como un síndrome no especificado de otra manera; esto permite codificar la catatonia en el contexto de otros trastornos psiquiátricos o del neurodesarrollo, como el trastorno obsesivo compulsivo o el autismo. Se caracteriza por síntomas motores, vocales y conductuales anormales, con alteración de la volición y la función vegetativa. Se estima que aproximadamente entre el 8 y 11 % de las personas autistas padecen catatonia. Es probable que haya un subregistro de catatonía, en especial en personas con autismo, debido a la falta de alerta sobre la misma, la heterogenicidad clínica y la similitud de muchos de sus síntomas con manifestaciones del autismo. Incluso muchas veces puede expresarse como una regresión autista tardía desde la pubertad a la vida adulta. Sus bases neurobiológicas aún no son claras y el tratamiento se basa en la administración de bensodiazepinas y la terapia electroconvulsiva, aunque es mucho el camino que aún queda por investigar en estos temas.

Abstract Autism is a neurodevelopmental disorder characterized by a qualitative alteration in social interac tion and communication, associated with restricted interests and stereotyped behaviors. It can be associated with medical problems such as epilepsy, gastrointestinal dysfunction, sleep disorders, other neurodevelopmental disorders such as language impairment, intellectual disability, sensory dysfunction, ADH/D, motor clumsiness, and/or neuropsychiatric disorders such as anxiety, depression, catatonia, schizophrenia, obsessive-compulsive disorders, behavioral and impulsive disorders, among others. Catatonia is recognized as a neuropsychiatric syn drome identified in all major mood and psychotic disorders, due to general medical conditions or as a syndrome not otherwise specified; this allows catatonia to be coded in the context of other psychiatric or neurodevelopmental disorders, such as obsessive-compulsive disorder or autism. It is characterized by abnormal motor, vocal, and behavioral symptoms, with impaired volition and vegetative function. It is estimated that approximately 8-11% of autistic people suffer from catatonia. It is probable that there is an underreporting of catatonia, especially in people with autism, due to the lack of alertness about it, the clinical heterogeneity and the similarity of many of its symptoms with manifestations of autism. Many times it can even express itself as a late autistic regression from puberty to adult life. Its neurobiological bases are still not clear and the treatment is based on the administration of bensodiazepines and electroconvulsive therapy although there is still a long way to go to investigate these issues.

Speech language characteristics and intervention approaches in lockedin syndrome post snake envenomation

The present case study illustrates hypoxic-ischemic encephalopathy as a result of neuroparalytic snake envenomation in an 11 year old male patient. Detailed speech assessment was done which revealed diverged oral structures and language loss. The study aims to document speech and language characteristics as well as rehabilitation in terms of speech therapy. The study enlightens the role of speech language pathologist in assessment and intervention of locked in syndrome. Study shows the swapped roles of traditional therapy approaches and the importance of augmentative and alternative communication as compassion and a beneficial technique in an intricate incident like hypoxic-ischemic encephalopathy as a result of neuroparalytic snake envenomation.

Mutismo selectivo: análisis psicodinámico desde la teoría de D. Winnicot / Selective mutism: psychodinamic analysis from Winnicott's theory

El Mutismo Selectivo (MS) es un trastorno poco frecuente dentro de la psiquiatría infantil. La prevalencia en estudios internacionales en niños entre 4 y 7 años va desde un 0,7 a un 2%, y la prevalencia es mayor en mujeres que en hombres. El desarrollo del MS ocurre antes de la edad de 5 años y mas comúnmente entre los 2,5 y los 4 años. El objetivo del presente es revisar algunos elementos de la evidencia actual acerca del MS y poder ampliar la mirada desde un análisis psicodinámico en base a la Teoría de Winnicott. Palabras claves: Mutismo selectivo, Winnicott, ansiedad, agresividad.

Selective Mutism (SM) is a rare disorder in child psychiatry. The prevalence in international studies in children between 4 and 7 years old ranges from 0.7 to 2%, and the prevalence is higher in females than in males. The onset of SM occurs before the age of 5 years of age and more commonly between 2.5 and 4 years of age. The objective of the present study is to review some elements of the current evidence about SM and to be able to broaden the view from a psychodynamic analysis based on Winnicott's theory. Key words: Selective mutism, Winnicott, anxiety, aggression.

Mutismo Selectivo / Selective Mutism / Mutismo Seletivo

RESUMEN Se describe un caso clínico de un adolescente masculino de 12 años, con antecedentes de salud física aparente y sin trastorno mental previo, que se atendió en consulta de Psiquiatra Infanto- juvenil del Policlínico Rene Vallejo Ortiz por mutismo selectivo. Las pruebas psicometrías arrojan: coeficiente de inteligencia normal medio según Weill de inteligencia, Bender no organicidad; técnica proyectiva del árbol, la casa y la persona (HTP) proyectando ansiedad, poca socialización, timidez, impulsividad, agresividad; Inventario de problemas juveniles (IPJ) alteraciones de la esfera personal. Rotter conflictos en la esfera personal y social. Test de depresión anotación 27 para moderada depresión- Test de ansiedad marcada ansiedad. En el tratamientose combinó terapias del comportamiento (incluyendo técnicas de desensibilización, extinción y refuerzo positivo), terapias cognitivo -conductual, terapia de juego, terapias familiares y uso de psicofármacos.

ABSTRACT We describe a clinical case of a 12-year-old male adolescent, with a history of apparent physical health and without previous mental disorder, who attended a consultation of the Child and Adolescent Psychiatrist of the Rene Vallejo Ortiz Polyclinic through selective mutism. The psychometric tests show: average intelligence coefficient according to Weill of intelligence, Bender non-organicity; projective technique of the tree, the house and the person (HTP) projecting anxiety, little socialization, shyness, impulsiveness, aggressiveness; Inventory of juvenile problems (IPJ) alterations of the personal sphere. Rotter conflicts in the personal and social sphere. Depression test annotation 27 for moderate depression- anxiety test marked anxiety. In the treatment, behavioral therapies were combined (including desensitization, extinction and positive reinforcement techniques), cognitive-behavioral therapies, play therapy, family therapies and the use of psychotropic drugs.

RESUMO Um caso de um adolescente do sexo masculino de 12 anos com uma história de saúde física aparente, sem transtorno mental, que foi assistido em consulta criança Policlínica e do adolescente psiquiatra René Vallejo Ortiz descrito por mutismo seletivo. Os testes psicométricos mostram: coeficiente de inteligência médio de acordo com Weill de inteligência, Bender não-organicidade; árvore de técnica projetiva, a casa ea pessoa (HTP) projetando ansiedade, problemas de socialização, timidez, impulsividade, agressividade; Inventário de problemas juvenis (IPJ) alterações da esfera pessoal. Rotter conflita na esfera pessoal e social. Anotação de teste de depressão 27 para depressão moderada - teste de ansiedade marcada pela ansiedade. No tratamento de terapia comportamental foi combinado (incluindo técnicas de dessensibilização, extinção e reforço positivo), terapia comportamental cognitiva, terapia de jogo, terapia familiar e uso de drogas psicotrópicas.

Efectividad del tratamiento temprano de niños con mutismo selectivo en los centros educativos / Effectiveness of early treatment of children with selective mutism in educational centers

Resumen El mutismo selectivo (MS) es un trastorno de ansiedad de baja prevalencia, lo que dificulta su investigación. Pese a su inicio temprano su diagnóstico no suele hacerse antes del acceso a la escolaridad obligatoria. El objetivo de este estudio fue valorar la eficiencia de un protocolo cognitivo-conductual para la intervención psicológica en el contexto educativo (ipmsce), siguiendo los criterios de la Task Force in Promotion and Dissemination of Psychological Procedures. Participaron 10 niños que presentaban una demora inferior a dos años entre el inicio del MS y su diagnóstico (1.00 ± 0.54). La edad media fue de 4.94 años y el 80% fueron niñas. Se utilizó un diseño de acumulación de casos, con medidas del tratamiento antes de su aplicación, al finalizar y en un seguimiento a los 12 meses, obtenidas a través de los padres, los profesores y un test situacional. Los resultados muestran la efectividad de la intervención.

Abstract Selective mutism (SM) is an anxiety disorder of low prevalence, which makes its investigation difficult. Despite its early start, its diagnosis is not usually made before access to compulsory schooling. The objective of this study was to assess the efficiency of a cognitive-behavioral protocol for psychological intervention in the educational context (ipmsce), following the criteria of the Task Force in Promotion and Dissemination of Psychological Procedures. Ten children with a delay of less than two years between the onset of SM and its diagnosis (1.00 ± 0.54) participated. The average age was 4.94 years and 80 % were girls. A case accumulation design was used, with measures of treatment before its application, at the end and in a followup at 12 months, obtained through parents, teachers and a situational test. The results show the effectiveness of the intervention.

Mutismo Selectivo: Revisión de la literatura / Selective Mutism: a review

El mutismo selectivo es un cuadro clínico caracterizado por una falta constante del habla en situaciones sociales específicas en las que hay una expectativa de hablar, a pesar de hacerlo en otras situaciones. El objetivo del presente trabajo es realizar una revisión narrativa de la evidencia en relación a este trastorno, con un énfasis en la evolución que presentan estos pacientes. La evidencia muestra que, si bien los síntomas generalmente mejoran con el tiempo, las personas a menudo continúan exhibiendo problemas de comunicación, un peor desempeño académico y laboral, además de presentar un mayor riesgo de otros trastornos psiquiátricos, principalmente Trastorno de Ansiedad Social. Es necesaria mayor investigación respecto al seguimiento de estos pacientes considerando la escasa evidencia disponible y el gran impacto que genera en el paciente y su familia. Palabras clave: Mutismo Selectivo, Revisión, Pronóstico, Niños, Trastorno de Ansiedad Social.

Abstract. Selective mutism is a disorder in which an individual fails to speak in certain social situations, in spite of being able to speak normally in other settings. The aim of the present work is to perform a narrative review of the evidence in relation to this disorder, with an emphasis on the progression presented by these patients. Evidence shows that, although symptoms generally improve over time, people often continue to exhibit communication problems, have a worse academic and work performance than expected, and present a higher risk of other psychiatric disorders, mainly Social Anxiety Disorder. Further research is necessary regarding the follow-up of these patients, considering the limited available evidence and the great impact it has on the patient and his family. Keywords: Selective Mutism, Review, Prognosis, Child, Social Anxiety Disorder

Reflexões da mediação escolar para uma criança com mutismo seletivo / Reflections of school mediation for a child with selective mutism

O presente trabalho apresenta as questões relacionadas aos processos de interação social no ambiente escolar de uma criança com mutismo seletivo, descrevendo as etapas de desenvolvimento atingidas frente ao processo de interação. Para tal, descrevemos as características pertinentes ao Mutismo Seletivo (MS), que é definido como uma inabilidade na comunicação oral em função de ansiedade social, ainda que possua capacidade de expressão. A pesquisa aborda o relato de uma professora que acolheu em sua turma uma aluna diagnosticada com MS pelo período de 3 anos. Os dados foram obtidos por meio da aplicação de um questionário semiestruturado e analisados com base em pesquisas realizadas sobre o MS e o processo de interação social. A mediação do professor permite que o aluno desenvolva suas habilidades comunicativas quando são utilizadas abordagens que dão ênfase à compreensão do sujeito, respeitando os seus limites e identificado estratégias para estimular as competências linguísticas, cognitivas e sociais.

The present work presents the questions related to the processes of social interaction in the school environment of a child with selective mutism, describing the steps of development reached in face of the interaction process. For such, we describe the characteristics pertinent to Selective Mutism (SM) that is defined as an inability in oral communication as a function of social anxiety, even though it has the capacity for expression. The research approaches the report of a teacher who welcomed in her class a female student diagnosed with SM for a period of 3 years. The data were obtained through the application of a semi-structured questionnaire and were analyzed based on research carried out on the selective mutism and the process of social interaction. The teacher's mediation allows the student to develop his / her communicative abilities, when using approaches that emphasize the comprehension of the subject, respecting its limits and identified strategies to stimulate the linguistic, cognitive and social competences.

O corpo petrificado: um caso de conversão histérica e mutismo seletivo / The body petrified: a case of hysterical conversion and selective mutism

Um olhar sobre a evolução da psicanálise revela que o corpo sempre foi central para o funcionamento e para o desenvolvimento da mente. A histeria e sua característica definidora, a conversão, são sensíveis às correntes culturais e, em lugares como o Irã, a gama limitada de opções sociais e interpessoais para as mulheres torna tal solução autoplástica ainda possível. Este artigo foca o tratamento psicanalítico de uma jovem mulher iraniana que apresenta conversão histérica e mutismo seletivo. A paciente apresenta-se em uma cadeira de rodas e muda, após um coma prolongado que se sucedeu a uma dramática rejeição por parte um parceiro amoroso. A sua apresentação trouxe à mente ideias de depressão essencial e de narcisismo negativo. O tratamento foi adaptado a partir da Escola Psicossomática de Paris, sendo conduzido por uma psicoterapeuta treinada em psicodinâmica no Irã, supervisionada nos Estados Unidos por uma psicanalista de origens iranianas. No decurso das primeiras dez sessões, a paciente voltou a falar e a se movimentar. O processamento mental da transferência foi encorajado e, até a vigésima terceira sessão, a paciente caminhava. Abordamos a paciente como uma feminista não declarada, cujos sintomas imitavam modos culturalmente aceitáveis de expressar a sua angústia. O nosso objetivo foi recuperar a linguagem perdida que pudesse conectar-lhe a mente ao corpo(AU)

A glance at the evolution of psychoanalysis reveals body to have always been central to the function and development of the mind. Hysteria, and its defining characteristic conversion are responsive to cultural currents and in places like Iran, the limited range of social and interpersonal options for women make such an autoplastic solution still likely. This article details psychoanalytic treatment of a young woman presenting with hysterical conversion and selective mutism in Iran. The patient, who was wheelchair-bound and mute presented after an extended coma following a dramatic rejection by a romantic partner. Her presentation brought to mind notions of essential depression and negative narcissism. Treatment was adapted from the Paris Psychosomatic School and was carried out by a psychodynamically trained female psychotherapist in Iran, supervised by an Iranian- born female psychoanalyst in the United States. Within the first 10 sessions, the patient regained speech and movement. Mentally processing the transference was encouraged and by session-23, the patient walked. We approached the patient as a closet feminist, one whose symptoms mimicked culturally acceptable ways of expressing her distress. Our aim was to recover the lost language that could connect her mind and body(AU)

El cuerpo petrificado: un caso de conversión histérica y mutismo selectivo Una revisión de la evolución del psicoanálisis revela que, para esta teoría, el cuerpo siempre fue central para el funcionamiento y para el desarrollo de la mente. La histeria y su conversión característica y definidora son sensibles a las corrientes culturales y, en lugares como Irán, la gama limitada de opciones sociales e interpersonales para las mujeres hace que aún sea posible dicha solución autoplástica. Este artículo se centra en el tratamiento psicoanalítico de una joven mujer iraní que presentaba conversión histérica y mutismo selectivo. La paciente, en una silla de ruedas y muda, se presentó tras un coma prolongado que sobrevino después del rechazo dramático dirigido a la joven por una pareja amorosa. Su presentación puso sobre el tapete nociones de depresión esencial y de narcisismo negativo. El tratamiento se adaptó de acuerdo a los preceptos de la Escuela Psicosomática de París y lo condujo una psicoterapeuta en psicodinámica en Irán, supervisionada en Estados Unidos por una psicoanalista de origen iraní. En el transcurso de las primeras diez sesiones, la paciente volvió a hablar y a moverse. Se estimuló el procesamiento mental de la transferencia y en la vigésimo tercera sesión la paciente caminaba. Abordamos a la paciente como una feminista no declarada cuyos síntomas imitaban modos culturalmente aceptables de expresar su angustia. Nuestro objetivo fue recuperar el lenguaje perdido que pudiera conectar su mente al cuerpo(AU)

Neuroanatomical Mechanism of Cerebellar Mutism After Stroke

Cerebellar mutism (CM) is a rare neurological condition characterized by lack of speech due to cerebellar lesions. CM is often reported in children. We describe a rare case of CM after spontaneous cerebellar hemorrhage. The patient showed mutism, irritability, decreased spontaneous movements and oropharyngeal apraxia. Diffusion tensor imaging revealed significant volume reduction of medial frontal projection fibers from the corpus callosum. In Tracts Constrained by UnderLying Anatomy (TRACULA) analysis, forceps major and minor and bilateral cingulum-angular bundles were not visualized. Cerebello-frontal pathway reconstructed from the FMRIB Software Library showed continuity of fibers, with decreased number of fibers on qualitative analysis. These results suggest that cerebello-frontal disconnection may be a neuroanatomical mechanism of CM. Damage of brain network between occipital lobe, cingulate and cerebellum caused by hemorrhage may also have role in the mechanism of CM in our case.

Remote Cerebellar Hemorrhage Presenting with Cerebellar Mutism after Spinal Surgery: An Unusual Case Report

Dural injury during spinal surgery can subsequently give rise to a remote cerebellar hemorrhage (RCH). Although the incidence of such injury is low, the resulting hemorrhage can be life threatening. The mechanism underlying the formation of the hemorrhage is not known, but it is mostly thought to develop after venous infarction. Cerebellar mutism (CM) is a frequent complication of posterior fossa operations in children, but it is rarely seen in adults. The development of CM after an RCH has not been described. We describe the case of a 65-year old female who lost cerebrospinal fluid after inadvertent opening of the dura during surgery. Computerized tomography performed when the patient became unable to speak revealed a bilateral cerebellar hemorrhage.

Tractografía de la vía dento-rubro-talámica en mutismo cerebeloso postoperatorio en niños con tumores de fosa posterior / Analysis of diffusion tensor imaging tractography of the dentate-rubro-thalamic pathway in postoperative cerebellar mutism in children with posterior fossa tumors

Introduction: Cerebellar mutism syndrome refers to the muteness (lack of speech) that follows lesions of the cerebellum. It’s characterized by a late onset, limited duration, and in some cases long-term language sequelae. Its pathogenesis it s not clear yet, but it has been attributed a role to a damage of the dentate nucleus and of the dento-rubro-thalamic tract. Objectives: Identify potential risk factors (clinical or anatomical) to predict the onset of cerebellar mutism after posterior fossa surgery Compare, using MRI analysis and DTI tractography, the integrity of the dento-rubro-thalamic tract in patients with and without cerebellar mutism. Methods: Prospective follow up study of patients operated of posterior fossa tumors between November 2012 and 2013. We performed a study with DTI of the dento rubro thalamic tract in pacients with and without postoperative mutism. Results: 53 patients under the diagnosis of posterior fossa tumor underwent surgical resection. 5 pacients presented postoperative mutism (9,4 percent). There was a significant association between postoperative medulloblastoma diagnosis and postoperative mutism. Tumor volume was not significant. The volume of left and right dento rubro thalamic tract were significantly lower in patients with cerebellar mutism. The fractional anisotropy of the right superior cerebellar peduncle was also lower in patients with postoperative mutism. Conclusions: The postoperative cerebellar mutism is a relevant complication after a posterior fossa surgery. Our study supports the role of dento rubro thalamic tract damage in the pathogenesis of this syndrome. Special care must be taken during surgery to prevent damage to this tract.

Introducción: El síndrome mutismo cerebeloso consiste en falta del habla posterior a lesiones del cerebelo. Se caracteriza por inicio tardío, duración limitada, y ocasionalmente secuelas lingüísticas. Su patogenia no está clara, pero se ha atribuido un rol a daños en el núcleo dentado y en la vía dento-rubro-talámica. Objetivos: Identificar posibles factores de riesgo (clínicos o anatómicos) asociados a la aparición de mutismo cerebeloso después de una cirugía de fosa posterior. Comparar, mediante un análisis de resonancia magnética (IRM) y tractografía por tensor de difusión (DTI), la integridad de la vía dento-rubro-talámica en pacientes con y sin mutismo cerebeloso. Métodos: Estudio prospectivo de pacientes operados por tumores de fosa posterior entre noviembre de 2012 y 2013. Se analizó con DTI la vía dento-rubro-talámica en pacientes con y sin mutismo postoperatorio. Se comparó la volumetría del tracto en ambas cohortes. Resultados: Cincuenta y tres pacientes con diagnóstico de tumor de fosa posterior fueron sometidos a cirugía de exéresis. Cinco pacientes presentaron mutismo postoperatorio (9,4 por ciento). Hubo una asociación significativa entre el diagnóstico de meduloblastoma y mutismo postoperatorio. El volumen tumoral no fue significativo. El volumen de la vía dento-rubro-talámica fue significativamente menor en pacientes con mutismo, en forma bilateral, así como la anisotropía fraccional del pedúnculo cerebeloso derecho. Conclusiones: El mutismo cerebeloso es una complicación relevante después de una cirugía de fosa posterior. Nuestro estudio apoya el papel del daño de la vía dento-rubro-talámica en la patogénesis de este síndrome. Se debe tener especial cuidado durante la cirugía para prevenir daños al núcleo dentado.

Síndrome de Susac: reporte de caso / Susac Syndrome: Case Report

Objetivo. Se describe un caso de una paciente femenina de 23 años de edad, con cefalea temporal unilateral izquierda de tipo opresiva, asociado a ataxia, desorientada en espacio y tiempo, y bradipsiquia. Métodos. El abordaje inicial fue hacia una posible esclerosis múltiple y asociada a la clínica y paraclínicos se sospechó una encefalomielitis diseminada aguda para lo cual inician pulsos de metilprednisolona, y dan egreso. Al mes, consulta nuevamente por exacerbación de la sintomatología neurológica dada por pérdida de la fuerza en miembros superiores e inferiores, disartria, relajación de esfínteres, somnolencia, se da como diagnóstico diferencial enfermedad de Devic, y al no obtener la respuesta adecuada a los corticoides se decide manejo con plasmaféresis, además de solicitar exámenes para descartar la patología en cuestión. Resultados. Se enfocó a la paciente con un posible diagnóstico de Síndrome de Susac solicitándose una arteriografía retiniana, y potenciales auditivos evocados.

The presented patient is a female of 23 years of age, with left-sided temporal headache, of the oppressive kind, associated with ataxia, disoriented in space and time, and mental slowing. The initial approach was to work toward a possible multiple sclerosis; then, the clinical and paraclinical tests arose the suspicion of an acute disseminated encephalomyelitis which was treated with methylprednisolone pulse and given discharge. Within a month, the patient returns for exacerbation of neurological symptoms given by loss of strength in upper and lower limbs, dysarthria, wetting, drowsiness; so the differential diagnosis that was given was Devic's disease, and as she was not responding properly to corticosteroids, it is decided to try with plasmapheresis. Finally the patient was focused with a possible diagnosis of Susac Syndrome with an arteriography paraclinical retinal and auditory evoked potentials.

Encefalitis Antirreceptor de N-metil-D-aspartato: primeros dos casos confirmados en pediatría / N-methyl-D-aspartate anti-receptor encephalitis: first two cases confirmed in pediatrics

La encefalitis por anticuerpos antirreceptor de glutamato de tipo N-Metil-D-Aspartato (Anti-NMDA) es una encefalopatía inmunomediada caracterizada por síntomas psiquiátricos, trastornos mnésicos, del lenguaje, convulsiones, disquinesias, compromiso de conciencia, inestabilidad autonómica e hipoventilación. El objetivo de este trabajo es mostrar los primeros dos casos de Encefalitis Anti-NMDA pediátricos confirmados en Uruguay. Casos: 2 varones de 6 y 14 años, sanos. El primero presentó inicialmente síntomas obsesivo-compulsivos y trastorno en la marcha. El segundo cefaleas de 10 días de evolución. Agregaron mutismo, incontinencia urinaria, trastorno de conducta, movimientos coreoatetósicos, distonías e inestabilidad autonómica. La resonancia de cráneo no mostró imágenes específicas, el líquido cefalorraquídeo fue normal y el electroencefalograma mostró un enlentecimiento difuso. Los anticuerpos Anti-NMDA fueron positivos en sangre y líquido cefalorraquídeo. Fueron tratados con metilprednisolona más inmunoglobulinas, requiriendo el primero asociar Rituximab. Esta enfermedad debe ser diagnosticada precozmente para iniciar el tratamiento inmunosupresor, de lo que depende el pronóstico.

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is an immunomediated encephalopathy that presents with psiquiatric psymptoms, speech dysfunction, memory problems, seizures, abnormal movements, autonomic dysfunction, hipoventylation and decreased consciousness. The objective of this study is to show the first two pediatric cases of Anti-NMDA receptor encephalitis confirmed in Uruguay. Clinical cases: Two boys, 6 and 14 years old, with Anti-NMDA receptor encephalitis. The first one had a subacute presentation with obsessive-compulsive symptoms and gate disorder while the second started with headaches. Both added mutism, urinary incontinence, behavioral and autonomic dysfunction and movement disorder. Magnetic resonance image and cerebrospinal fluid was normal. Electroencephalogram showed diffuse slow background activity. Serum and cerebrospinal fluid Anti-NMDA antibodies were positive. Both were treated with methylprednisolone and immunoglobulins, one of them also received Rituximab. We want to emphasize the importance of early diagnosis of this immunomediated encephalopathy in order to start treatment as soon as possible.

Cerebellar mutism and childhood medulloblastoma / 临床儿科杂志

Objective To investigate the relationships among cerebellar mutism (CM), relapsed medulloblastoma (MB) and the primary tumor location.MethodsA retrospective analysis was conducted in 114 children over 3 years old with MB from November 2011 to April 2015.ResultsThe median onset age was 84.7 months (36.4 to 184.7 months) in 114 children with MB (77 boys and 37 girls), of whom there were 48 cases of recurrence. There were twenty two cases of CM and the overall incidence of CM was 19.3% (22/114). The incidence of CM was 19.7% (13/66) in non-recurrent cases and 18.8% (9/48) in recur-rent cases, and there was no signiifcant difference between two groups (P=0.899). The incidence of CM was 17.6% (9/51) in cas-es with primary tumor in the fourth ventricle, 7.1% (1/14) in cases with primary tumor in the cerebellar vermis, 21.4% (3/14) in cases with primary tumor in both fourth ventricle and cerebellar vermis, 45.5% (5/11) in cases with primary tumor in fourth ven-tricle and other parts of the brain, and 50.0% (4/8) in cases with primary tumor in cerebellar vermis and other parts of the brain. No CM incidence was observed in cases with primary tumor in central nerve system except for the fourth ventricle and cerebellar vermis. The incidence of CM between the cases with fourth ventricle/cerebellar vermis involvement and those without fourth ventricle/ cerebellar vermis involvement had signiifcant difference (P=0.039). ConclusionsThere is no relationship between CM and relapsed MB. Children with MB whose primary tumor is located in the fourth ventricle and/or the cerebellar vermis is susceptible to CM.

A Selective Mutism Arising from First Language Attrition, Successfully Treated with Paroxetine-CBT Combination Treatment

After immersion in a foreign language, speakers often have difficulty retrieving native-language words and may experience a decrease in its proficiency, this phenomenon, in the non-pathological form, is known as first language attrition. Self-perception of this low native-language proficiency and apprehension occurring when speaking is expected and, may sometimes lead these people to a state of social anxiety and, in extreme forms, can involve the withholding of speech as a primitive tool for self-protection, linking them to selective mutism. We report an unusual case of selective mutism arising from first language attrition in an Italian girl after attending a two-year "German language school", who successfully responded to a paroxetine-cognitive behavioral treatment (CBT) combination treatment.

Non catatonic mutism in schizophrenia- a case report and discussion

Background: Mutism is a common accompaniment of catatonic schizophrenia. It responds to treatment with benzodiazepines and electro convulsive therapy. However mutism can also occur in non catatonic schizophrenia. There are very few reports of the same in literature and most show resistance to conventional treatment. The present case report deals with one such case and the challenges it poses. Case description: A young Asian man, with a diagnosis of paranoid schizophrenia presented with long standing mutism in the absence of any other catatonic features. A trial of various antipsychotics and also electroconvulsive therapy failed to show any improvement in mutism. He ultimately responded to amisulpride 800 mg/day. Discussion: Mutism though is most widely reported in catatonic schizophrenia, can also be seen in non catatonic schizophrenia. It shows poor response to conventional treatment. Conclusion: Mutism is a challenging symptom which may persist after the resolution of other psychotic symptoms and continue to hinder the patient’s social, occupational and personal life.

Recollections of J.B.S. Haldane, with special reference to Human Genetics in India.

This paper is a brief account of the scientific work of J.B.S. Haldane (1892–1964), with special reference to early research in Human Genetics. Brief descriptions of Haldane's background, his important contributions to the foundations of human genetics, his move to India from Great Britain and the research carried out in Human Genetics in India under his direction are outlined. Population genetic research on Y-linkage in man, inbreeding, color blindness and other aspects are described.

Cerebellar Mutism After Pineal Tumour Excision: A Case Report.

Cerebellar mutism syndrome (CMS) was first described by Rekate et al in 1985. This syndrome is a common complication of posterior fossa surgery in children with range of 11-29% and usually manifests as diminished speech, hypotonia, and ataxia. The cause is due to bilateral pertubation of the dentate nuclei and their efferent pathways by edema, perfusional defects, axonal damage or metabolic disturbances. Other rare causes of CMS like acute subdural hematoma of the posterior fossa, head injury, brainstem glioma surgery, meningitis and basilar artery occlusion have also been reported. CMS after supracerebellar resection of the pineal tumor is a very rare with very few cases reported. We report such a case in a 10- year old boy who underwent excision of a pineal tumor through the infratentorial supracerebellar route.

Erythrokeratodermia Variabilis with Congenital Deaf-Mutism / 대한피부과학회지

Erythrokeratodermia variabilis is a rare genodermatosis characterized by the coexistence of randomly occurring, transient, erythematous patches and hyperkeratosis of the skin. A 25-year-old Uzbekistanian female with congenital deaf-mutism presented with well demarcated geographic hyperkeratotic patches and bizarre erythema on the whole body surface except the face, hands and feet from birth. The histopathological examination revealed marked hyperkeratosis, moderate acanthosis in the epidermis and vascular dilatation with a perivascular infiltration of inflammatory cells in the upper dermis. Herein we report on a rare case of erythrokeratodermia variabilis with congenital deaf-mutism which was rapidly improved by administering acitretin.

Leukoencephalopathy and Akinetic Mutism in a Married Couple: A Probable Association with Oriental Medicine

BACKGROUND: Oriental medicines have been associated with severe psychiatric, neurological, and other adverse medical events. These medicines occasionally cause a typical reversible toxic encephalopathy, but most such cases are not recognized because these adverse events are complex and are associated with other systemic signs and symptoms. CASE REPORT: We describe a married couple with rapid progressive cognitive impairment and akinetic mutism after taking the same oriental medicines on the same day. Brain magnetic resonance images of the couple showed typical leukoencephalopathy in the periventricular white matter and basal ganglia regions, bilaterally. CONCLUSIONS: The development of neurobehavioral symptoms and toxic leukoencephalopathy in both patients following the ingestion of oriental medicines is suggestive of a cause-and-effect association, although such a relationship needs to be verified.