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ABSTRACT People with Trisomy 21 (T21) have generalized hypotonia, also manifesting in oral structures. The palatal memory plate (PMP) is a removable appliance to improve tongue and lip posture. The evidence of research elucidates an improvement in oral motor function in children with T21 up to the age of 2 who received PMP-based therapy, with only limited, scanty reports in the literature concerning older children. Therefore, the aim of this study is to evaluate the effects of modified PMP on an oral motor function in patients over 2 years old. Two patients with T21, aged 4 and 3, with absence of lip seal and tongue malposition, were subjected to PMP-based therapy for 6 months. The patients were evaluated for an extra and intra oral exam; their parents answered a questionnaire about their children's habitual tongue and lip position. Two-minute footage to record orofacial motor functions was performed monthly, during follow-up appointments to assess the changes. The substantial improvement of tongue and lip posture was observed after 6 months of plate regular use. PMP has proved to be clinically effective in children over 2 years old, presented with T21, leading to improvement of lip and tongue posture, observed by parents and professionals.

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RESUMO Indivíduos com Trissomia do 21 podem apresentar hipotonia muscular dos órgãos fonoarticulatórios, língua alargada, posicionada no assoalho oral e protrusa e ausência de selamento labial. A placa palatina de memória é um dispositivo intraoral que, associado à terapia miofuncional, visa à melhora da postura habitual dos lábios e da língua dessas crianças. O objetivo deste trabalho foi apresentar os casos de quatro crianças com Trissomia do 21, do sexo masculino, com média de idade de 6,7 e desvio-padrão de 7,8 meses, que fizeram uso da placa palatina de memória de forma associada à terapia miofuncional. As crianças utilizaram a placa por seis meses, realizaram exercícios baseados na terapia de regulação orofacial e receberam orientações quanto à alimentação e retirada de hábitos orais deletérios. Na primeira sessão e ao final do tratamento, foi realizada a gravação de 5 minutos da face de cada criança em repouso e a análise da postura habitual de língua e de lábios foi realizada por dois pesquisadores independentes. Observou-se maior melhora da postura de língua e de lábios dos participantes que iniciaram o tratamento mais precocemente e que apresentavam as alterações posturais mais severas.

ABSTRACT Individuals with trisomy 21 may have muscle hypotonia of the speech articulation organs, an enlarged protruding tongue positioned on the floor of the mouth, and a lack of lip closure. The stimulating palatal plate is an intraoral appliance that, associated with myofunctional therapy, aims to improve these children's habitual lip and tongue posture. This study aimed to present the cases of four male children with trisomy 21, with a mean age of 6.7 and a standard deviation of 7.8 months, who used the stimulating palatal plate in association with myofunctional therapy. The children used the plate for 6 months and did exercises based on the orofacial regulation therapy, and their parents received instructions on feeding them and removing deleterious oral habits. In the first session and at the end of the treatment, each child's face was video-recorded for 5 minutes at rest, and two researchers analyzed independently their habitual tongue and lip posture. Participants who began the treatment earlier and had the most severe postural changes had greater tongue and lip posture improvement.

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The aim of the present study was to investigate orofacial pain in individuals with Down syndrome (DS) and determine possible associations with masticatory muscle hypotonia (MMH), maximum mouth opening (MMO), and sleep disorders. Twenty-three individuals with DS underwent a standardized clinical examination using Axis I of the Diagnostic Criteria for Temporomandibular Disorders, for the diagnosis of pain in the masseter and temporal muscles and temporomandibular joint (TMJ). MMH was investigated using electromyography of the temporal and masseter muscles and the measurement of maximum bite force (MBF). MMO was measured using an analog caliper. Sleep disorders (obstructive sleep apnea [OSA], snoring index [SI], and sleep bruxism index [SBI]) were investigated using type II polysomnography. Statistical analysis was performed. Nonsignificant differences were found in muscle and TMJ pain between the sexes. However, myalgia and referred myofascial pain in the left masseter muscle were more frequent in males (69%) than females (40%). Electrical activity of the temporal (left: p = .002; right: p = .004) and masseter (left: p = .008) muscles was significantly lower in males than in females. MBF range was lower in males than females, indicating the highest MMH among males. OSA, SI, and SBI were identified in both sexes, but with no statistically significant differences. We concluded that myalgia and referred myofascial pain were found in some individuals with DS, especially in males. Arthralgia was found mainly in females. Temporal and masseter myalgia may have exerted an influence on the severity of MMH in males, particularly on the left side.

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Associations between fetal exposure to antidepressants and neonatal hypotonia were studied using VigiBase and the French PharmacoVigilance Database. We identified significant associations between neonatal hypotonia and clomipramine, venlafaxine, and imipramine. Reports from the French database implicated prolonged fetal exposure. Neonatal hypotonia may be associated with in utero exposure to antidepressants.

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Este estudo tem como objetivo avaliar os efeitos das terapias com eletroestimulação neuromuscular e dispositivos biomecânicos intraorais sobre as propriedades físicoquímica e microbiológica da saliva em pacientes com síndrome de Down (SD) e apneia obstrutiva do sono (AOS). Ainda investigamos a morfologia das glândulas salivares maiores: parótidas, submandibulares e sublinguais para verificar possíveis desordens estruturais nesses indivíduos. Vinte e três pacientes adultos com SD e AOS, com idade entre 18 e 31 anos, de ambos os gêneros, foram convidados para participar deste estudo. Dentre esses pacientes, 18 concluíram as terapias propostas e foram divididos em três grupos: EENMs (n=7; terapia com eletroestimulação neuromuscular de superfície), DMHB (n=4; terapia com dispositivo mastigatório com hiperboloide) e AIOm (n=7; terapia com aparelho intraoral de avanço mandibular). A EENMs foi aplicada sobre os músculos masseter (porção superficial) e temporal (porção anterior), em ambos os lados. O DMHB foi posicionado entre as faces oclusais dos dentes posteriores e o paciente mordeu suas pontas ativas com hiperboloide. O AIOm foi utilizado somente no período de sono. Esse aparelho foi ativado lentamente, de 0,5 mm a 1,0 mm a cada 1 ou 2 semanas, respeitando as limitações fisiológicas do paciente. Todas as terapias foram realizadas durante 2 meses consecutivos. Antes e após as terapias propostas, testes de saliva foram realizados, incluindo taxa de fluxo salivar (TFS), valor de pH, capacidade tampão (CT), cortisol salivar matinal (CSmatinal) e noturno (CSnoturno) e identificação de Pseudomonas aeruginosas (P. aeruginosas). A seguir, a morfologia das glândulas salivares maiores, foram investigadas através do exame de ultrassonografia. Na análise estatística, teste de Wilcoxon (signed-rank test) para análise de correlação e teste de Kruskal-Wallis com o teste de Dunn para comparações múltiplas não paramétricas foram feitos. O nível de significância foi de p < 0,05. Embora a TFS tenha permanecido reduzida, a produção de saliva aumentou em todas as terapias. A TFS mostrou diferença estatística apenas no AIOm (p<0,0225). Houve diferença estatística no valor de pH apenas no EENMs (p < 0,0346). Nenhuma diferença estatística no CT foi encontrada; entretanto, os valores de normalidade foram alcançados (valores de limítrofe para normal) em 50% para DMHB e em 29% para EENMs e AIOm. Os valores normais de CSn não foram afetados, embora os níveis de CSn tenham aumentado estatisticamente na EENM (p < 0,0360) e entre as terapias EENM e AIOm (p < 0,0058). Nenhuma espécie de P. aeruginosa foi identificada em nossos pacientes antes das terapias. Neste estudo, pudemos concluir que a redução de fluxo salivar permaneceu nos pacientes com SD e AOS após as terapias propostas; entretanto, o AIOm seguido do DMHB mitigaram a severidade dessa alteração. A EENMs teve melhor desempenho em relação a qualidade da saliva quando comparado com as demais terapias. Dentre as terapias, os pacientes tratados com AIOm mostraram alta susceptibilidade ao estresse no período noturno. Nenhum paciente tinha risco de pneumonia por aspiração, antes das terapias. Nenhuma anomalia congênita de glândulas salivares maiores foi evidenciada, todavia alterações adquiridas foram observadas em alguns pacientes com SD e AOS (AU).

This study aims to evaluate the effects of neuromuscular electrostimulation therapies and intraoral biomechanical devices on the physicochemical and microbiological properties of saliva in patients with Down syndrome (DS) and obstructive sleep apnea (OSA). In addition, we investigated the major salivary glands' morphology: the glands of parotid, submandibular and sublingual to verify possible structural disorders in these individuals. Twenty-three adult patients with DS and OSA, with age range from 18 to 31 years old, of both genders, were invited to participate in this study. Among these patients, 18 patients completed the proposed therapies, and they were divided into three groups of therapy: sNME (n=7; therapy with surface neuromuscular electrostimulation), MDHB (n=4; therapy with masticatory device with hyperboloid) and mIOA (n= 7; therapy with mandibular advancement intraoral appliance). The sNME was applied on the masseter (superficial portion) and temporal (anterior portion) muscles on both the sides. The MDHB was positioned between the occlusal surfaces of the posterior teeth and the patient bit the active tips with hyperboloid. The mIOA was used only during the sleep. This appliance was activated slowly, from 0.5 mm to 1.0 mm per 1 to 2 weeks, respecting the patient's physiological limitations. All therapies were performed for 2 consecutive months. Before and after the proposed therapies, saliva tests were done, including salivary flow rate (SFR), pH value, buffering capacity (BC), morning (morningSC) and night (nightSC) salivary cortisol, and identification of Pseudomonas aeruginosa (P. aeruginosa). Furthermore, the major salivary glands' morphology, were investigated by means of ultrasound examination. For statistical analysis, Wilcoxon signed-rank test for correlation analysis and Kruskal-Wallis test with Dunn's test for nonparametric multiple comparisons were done. The level of significance was p < 0.05. Although SFR remained reduced, the saliva production increased in all therapies. The SFR showed a statistical difference only in the mIOA (p<0.0225). Despite the few variations in the pH value, there was a statistical difference only in the sNME (p<0.0346). No statistical difference was found in BC; however, the normality values were reached (borderline to normal values) in 50% for MDHB and in 29% for sNME and mIOA. The normal values of nSC were not affected, even though the nSC levels have increased statistically in NMES (p < 0.0360) and between the NMES and mIOA therapies (p <0.0058). No P. aeruginosa species was identified in our patients before the therapies. In this study, we concluded that the reduction in salivary flow remained in DS patients with DS and OSA after the proposed therapies; however, mIOA followed by MDHB mitigated the severity of this alteration. sNME showed better performance in relation to saliva quality when compared to other therapies. Among the therapies, patients treated with mIOA showed high susceptibility to stress, particularly at night. No patient had risk of aspiration pneumonia before the therapies. No congenital anomalies of major salivary glands were evidenced, but acquired alterations were observed in some patients with DS and OSA. (AU)

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In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic features and clinical characteristics in toddlers (2 to 5 years) with autism spectrum disorder (ASD). Among 93 children, 32 (34.4%) had GH. These patients had a later onset of independent walking (17 vs. 15 months, p < 0.01), a higher proportion of motor stereotypies (65.6 vs. 27.9%, p < 0.01), a lower mean total score in the parental-reported Generic Core Scale of Pediatric Quality of Life Inventory 4.0 (71 vs. 76 points, p 0.03), and a higher mean total score in the Calibrated Severity Score of Autism Diagnostic Observation Schedule version 2 at diagnosis (6 vs. 5 points, p 0.02) compared to the group without GH.Conclusion: Hypotonia is associated with other motor abnormalities and could be an early marker for higher autistic symptom severity and lower quality of life in young children with ASD. What is Known: • Motor function is closely related to autism spectrum disorder (ASD) • Muscle hypotonia is present in 15% to 67% of children with ASD What is New: • Muscle hypotonia is associated with higher autistic symptom severity and lower quality of life in children with ASD • Children with ASD and muscle hypotonia have more commonly motor stereotypies and a later onset of independent walking.

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Aim: To identify abnormalities in muscle tone and motor function associated with congenital Zika syndrome (CZS).Method: A cross-sectional observational study involving 96 children (55 males) with CZS at a mean (SD) age 35.2 ± 2.9 months. Children's muscle tone was investigated using the pull to sit, scarf sign, shoulder suspension and ventral suspension tests and the modified Ashworth scale (MAS). Motor impairment was determined using the Gross Motor Function Classification System (GMFCS) and body segments most affected with motor impairment.Results: 58 (60,5%) children tested positive for ≥1 maneuver used to evaluate muscle tone, while 38 (39.5%) tested negative in all the tests. MAS score was >0 for at least one of the appendicular muscles in 91 children (94.8%). In 88 children (91.7%), all four limbs were affected.Conclusion: Findings suggestive of axial hypotonia and appendicular hypertonia associated with severe motor impairment were prevalent in children with CZS.

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Abstract Myotonic dystrophy is a disease affecting the muscle fibers with loss of muscle mass. The principal characteristic of the disease is myotony or slow muscle relaxation following muscle contraction that is further aggravated as a result of stress, pain, cold, or by the administration of succinylcholine. Similar to other muscle pathologies, myotonic dystrophy is considered a multisystem disorder, usually with cardiac and respiratory involvement, a fact to be kept in mind when planning anesthesia. Moreover, there is a potential association with malignant hyperthermia or rhabdomyolysis associated with some muscle diseases. The case herein discussed is an example of the management of anesthesia in this group of patients to avoid the potential triggers of a myotonic crisis.

Resumen La distrofia miotónica es una enfermedad de las fibras musculares que cursa con pérdida de masa muscular y cuya característica principal es la miotonía, que describe la relajación muscular lenta tras una contracción muscular, situación agravada por estrés, dolor, frío, o por la administración de succinilcolina. Como toda enfermedad muscular, es considerada multisistémica, con afectación cardíaca y respiratoria en la mayoría de los casos, lo cual deberá tenerse en cuenta a la hora de elaborar un plan anestésico. Además, se debe considerar la posible relación con el desarrollo de hipertermia maligna o rabdomiólisis asociada a algunas enfermedades musculares. El caso que presentamos es un ejemplo del manejo anestésico de estos pacientes evitando los posibles desencadenantes de una crisis miotónica.

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El botulismo es un importante problema de salud pública en Argentina. Es una enfermedad potencialmente letal y de difícil diagnóstico. Existen casos de presentación infrecuente de dicha enfermedad, como el abdomen agudo. Exponemos el caso de un niño de 4 meses, que consultó por constipación de 3 días de evolución, asociada a decaimiento y regular actitud alimentaria de 12 horas de evolución. Presentaba tono muscular conservado, sin alteraciones en la succión ni deglución, según la referencia materna. Se constató sensorio alternante y abdomen agudo, por lo que ingresó a quirófano con sospecha de invaginación intestinal, la cual fue confirmada mediante desinvaginación neumática. Durante la internación, el paciente evolucionó desfavorablemente y presentó llanto débil, hipotonía progresiva e insuficiencia respiratoria, por lo que requirió cuidados intensivos. Se aisló Clostridium botulinum en la muestra de materia fecal y toxina botulínica tipo A en el suero. Recibió toxina antibotulínica equina como tratamiento, con recuperación total a los 25 días de haber ingresado.

Botulism is an important public health problem in Argentina. It is a potentially fatal disease, and its diagnosis may be difficult. There are rare presentation forms of the disease, such as acute abdomen. We present a 4-monthbaby with a 3-day constipation condition, associated with weakness and abnormal eating attitude in the last 12 hours. The baby presented preserved muscle tone, with no changes in sucking or deglutition according to the mother's observations. Altered sensorium and acute abdomen were found; the patient was entered into the operating room with presumptive diagnosis ofintussusception, which was confirmed by pneumatic desinvagination. During hospitalization, the patient did not make good progress and presented weak cry, progressive hypotonia and respiratory failure requiring intensive care. Clostridium botulinum was isolated from the stool sample and botulinum toxin type A was isolated from serum. The patient was treated with equine botulinum toxin. Twenty five days after admission, he was totally recovered.

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El botulismo es un importante problema de salud pública en Argentina. Es una enfermedad potencialmente letal y de difícil diagnóstico. Existen casos de presentación infrecuente de dicha enfermedad, como el abdomen agudo. Exponemos el caso de un niño de 4 meses, que consultó por constipación de 3 días de evolución, asociada a decaimiento y regular actitud alimentaria de 12 horas de evolución. Presentaba tono muscular conservado, sin alteraciones en la succión ni deglución, según la referencia materna. Se constató sensorio alternante y abdomen agudo, por lo que ingresó a quirófano con sospecha de invaginación intestinal, la cual fue confirmada mediante desinvaginación neumática. Durante la internación, el paciente evolucionó desfavorablemente y presentó llanto débil, hipotonía progresiva e insuficiencia respiratoria, por lo que requirió cuidados intensivos. Se aisló Clostridium botulinum en la muestra de materia fecal y toxina botulínica tipo A en el suero. Recibió toxina antibotulínica equina como tratamiento, con recuperación total a los 25 días de haber ingresado.(AU)

Botulism is an important public health problem in Argentina. It is a potentially fatal disease, and its diagnosis may be difficult. There are rare presentation forms of the disease, such as acute abdomen. We present a 4-monthbaby with a 3-day constipation condition, associated with weakness and abnormal eating attitude in the last 12 hours. The baby presented preserved muscle tone, with no changes in sucking or deglutition according to the mothers observations. Altered sensorium and acute abdomen were found; the patient was entered into the operating room with presumptive diagnosis ofintussusception, which was confirmed by pneumatic desinvagination. During hospitalization, the patient did not make good progress and presented weak cry, progressive hypotonia and respiratory failure requiring intensive care. Clostridium botulinum was isolated from the stool sample and botulinum toxin type A was isolated from serum. The patient was treated with equine botulinum toxin. Twenty five days after admission, he was totally recovered.(AU)

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El síndrome de Cohen es una rara enfermedad de origen genético que se transmite con un patrón autosómico recesivo. Se caracteriza por la asociación de obesidad, hipotonía, retraso mental, microcefalia, dismorfia cráneofacial típica, así como incisivos centrales grandes y salientes, con dedos finos en forma de huso. Se ha localizado el locus para el síndrome de Cohen en el cromosoma 8q 22 (COH 1). Desde su descripción se reportan pocos casos, su diagnóstico es clínico a través de una delineación correcta del fenotipo. Se presenta una paciente de 14 años de edad afectada con este síndrome, en la que hasta ahora no se había podido llegar al diagnóstico clínico. A esta edad fue que se logró una delineación correcta del fenotipo y por consiguiente el correcto diagnóstico, lo que es de vital importancia para poder brindar un mejor asesoramiento genético a la familia.

Cohen syndrome is a rare genetic disease that is transmitted in an autosomal recessive pattern. It is characterized by obesity, hypotonia, mental retardation, microcephaly, typical craniofacial dysmorphism, large and prominent central incisors as well as thin, spindle-shaped fingers. The locus for Cohen syndrome has been located on chromosome 8q 22 (COH 1). Few cases have been reported since its description, it is clinically diagnosed through a proper delineation of the phenotype. The case of 14-year-old patient with this syndrome in whom a clinical diagnosis had not been established thus far is presented. An accurate delineation of the phenotype was achieved at this age and consequently, the correct diagnosis was reached, which is critical in order to provide better genetic counseling to the family.

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Introdução: A miopatia centronuclear é uma doença muscular congênita com apresentação clínica heterogênea, caracterizada histologicamente pela proeminência de fibras musculares com núcleos centralizados. Três formas são reconhecidas: neonatal grave, com herança ligada ao X e envolvimento do gene MTM1; autossômica dominante, com início geralmente tardio e curso mais leve, associada a mutações no gene DNM2; e autossômica recessiva, com gravidade intermediária entre as outras formas e envolvimento dos genes BIN1, RYR1 ou TTN. Apesar da identificação dos principais genes responsáveis pela doença, os métodos usuais de diagnóstico genético não encontram mutações em cerca da metade dos casos. Objetivo: O objetivo deste estudo foi a caracterização clínica, histológica e molecular de pacientes brasileiros portadores de miopatia centronuclear. Métodos: Laudos de dois bancos de biópsia muscular foram usados para identificar pacientes com diagnóstico de miopatia centronuclear nos últimos dez anos. As lâminas das biópsias foram revisadas e analisadas, e as famílias correspondentes convocadas para aplicação de protocolo clínico e coleta de sangue periférico para extração de DNA genômico. As famílias foram estudadas para os genes conhecidos por sequenciamento Sanger, MLPA, painel de genes implicados em doenças neuromusculares ou sequenciamento de exoma. Resultados: Foram convocados 24 pacientes provenientes de 21 famílias, em 16 das quais foi possível estabelecer o diagnóstico molecular. As 7 famílias com a forma neonatal grave constituíam um grupo homogêneo clínica e histologicamente, e mutações novas e conhecidas foram encontradas no gene MTM1 em 6 destas. Dois meninos deste grupo, com evolução estável, tiveram óbito súbito por choque hipovolêmico subsequente a rompimento de cisto hepático. O gene MTM1 também foi implicado em uma menina portadora manifestante, com quadro mais leve, na forma de uma macrodeleção em heterozigose, detectada por MPLA...

Introduction: Centronuclear myopathy is a heterogeneous congenital muscle disease, characterized by the prominence of centralized nuclei in muscle fibers. Three disease forms are recognized: a severe neonatal, X-linked form caused by mutations in the MTM1 gene; an autosomal dominant, late-onset milder form, associated to the DNM2 gene; and an autosomal recessive form, with intermediate severity, so far with the BIN1, RYR1 or TTN genes implicated. In spite of the identification of these genes, usual molecular diagnostic methods don't yield a molecular diagnosis in about half of cases. Objetives: The aim of this work was to study clinical, histological, and molecular aspects of centronuclear myopathy Brazilian patients. Methods: Reports taken from two muscle biopsy banks were used to identify centronuclear myopathy patients in the last ten years. Biopsy slides were reviewed and analyzed, and corresponding families recruited to apply a clinical protocol and to draw peripheral blood to extract genomic DNA. Families were studied for known genes via Sanger sequencing, MLPA, panel of genes implicated in neuromuscular diseases, or exome sequencing. Results: Twentyfour patients out of 21 families were recruited, and in 16 families molecular diagnosis was established. The 7 families with the severe neonatal form amounted to a clinically and histologically homogeneous group, and mutations, both known and novel, were found in the MTM1 gene in 6 of these. Two boys of this group, with a stable course, died suddenly of hypovolemic shock due to a hepatic cyst rupture. The MTM1 gene was also implicated in the case of a mild manifesting carrier girl with a heterozygous macrodeletion detected via MLPA...

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OBJETIVO: Alertar os pediatras sobre a necessidade de investigar criteriosamente a etiologia de eventos com aparente risco de morte recorrente. Não foram encontrados relatos associando tais eventos à miastenia congênita. DESCRIÇÃO DO CASO: Lactente de sete meses apresentando história de eventos com aparente risco de morte recorrente foi internado para investigação. Durante a internação, apresentou cianose e dispneia progressiva, com necessidade de ventilação mecânica por três dias. Após a melhora clínica, e tendo sido descartadas as hipóteses de doença do refluxo gastroesofágico e aspiração pulmonar como desencadeantes, notou-se ptose palpebral bilateral, hipotonia apendicular e choro fraco, que conduziram à suspeita clínica de miastenia congênita. Após confirmação do diagnóstico, foi mantido tratamento ambulatorial com piridostigmina, com recuperação nutricional e neurológica, sem novos eventos com aparente risco de morte nos três anos seguintes. COMENTÁRIOS: A investigação minuciosa das causas de eventos com aparente risco de morte pode levar a diagnósticos menos frequentes que exigem tratamento específico, como a miastenia congênita.

OBJECTIVE: To alert pediatricians about the importance of a careful investigation on recurrent apparent life-threatening events. Reports of the association of these events with congenital myasthenic syndromes were not found. CASE DESCRIPTION: A seven-month-old infant with recurrent apparent life-threatening events was admitted for investigation. During hospital stay, she presented cyanosis and respiratory failure, requiring mechanical ventilation for three days. After clinical improvement, hypotheses of gastroesophageal reflux and pulmonary aspiration were ruled out. The presence of eyelid ptosis, general hypotonia and weak crying led to the suspicion of congenital myasthenia, which was confirmed. Treatment with oral piridostigmine led to neurological and nutritional normalization, without any other apparent life-threatening event during the next three years. COMMENTS: The careful etiological investigation of apparent life-threatening events may lead to rare diagnosis that requires specific treatments, such as congenital myasthenia.

OBJETIVO: Alertar a los pediatras sobre la necesidad de investigar criteriosamente la etiología de eventos con aparente riesgo de muerte recurrente. No se encontraron relatos asociando tales eventos a la miastenia congénita. DESCRIPCIÓN DEL CASO: Lactante de siete meses presentando historia de eventos con aparente riesgo de muerte recurrente fue internado para investigación. Durante la internación, presentó cianosis y disnea progresiva, con necesidad de ventilación mecánica por tres días. Después de la mejora clínica, y habiendo sido rechazadas las hipótesis de enfermedad del reflujo gastroesofágico y aspiración pulmonar como desencadenantes, se notó ptosis palpebral bilateral, hipotonía apendicular y lloro débil, que condujeron a la sospecha clínica de miastenia congénita. Después de la confirmación del diagnóstico, se mantuvo el tratamiento ambulatorial con piridostigmina, con recuperación nutricional y neurológica, sin nuevos eventos con aparente riesgo de muerte en los tres años siguientes. COMENTARIOS: La investigación minuciosa de las causas de eventos con aparente riesgo de muerte puede llevar a diagnósticos menos frecuentes que exigen tratamiento específico, como la miastenia congénita.

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Cistite intersticial (CI) é uma síndrome de etiologia desconhecida, multifatorial, que provoca sintomas no trato urinário inferior como aumento na frequência urinária, urgência miccional, noctúria, acompanhada de dor vesical que frequentemente é aliviada após a micção. A prevalência é maior nas mulheres, que podem apresentar dor em região suprapúbica, perineal, vaginal e, não raramente, dispareunia. A conduta terapêutica é difícil, pela baixa eficácia nos tratamentos oferecidos e pelo alto impacto da doença na qualidade de vida dos pacientes. A fisioterapia surge como um tratamento promissor e de papel fundamental na melhora sintomatológica e redução da disfunção do assoalho pélvico, que comumente acometem os portadores dessa síndrome. Apesar da escassez de trabalhos científicos, principalmente no Brasil, utilizando apenas técnicas fisioterapêuticas, esta revisão discutiu o papel da fisioterapia na CI, enfatizando a terapia manual para o assoalho pélvico (massagem de Thiele) e a terapia comportamental como técnicas mais empregadas para alívio dos sintomas e melhoria na qualidade de vida dos pacientes

Interstitial cystitis (IC) is a mulfactorial syndrome with unknown etiology, which causes symptoms on the lower urinary tract characterized by urinary frequency, urgency, nocturia and bladder pain that diminishes with bladder emptying. The prevalence is significantly higher in women who may have suprapubic, vaginal, perineal pains and dyspareunia. The therapeutic is difficult due to the lower efficiency of the treatments offered and the higher impact in the quality of patients' life. The physical therapy appears tobe a promising treatment and has a fundamental part on the symptoms improvement and reduction of pelvic floor dysfunction. In spite of the shortage of scientific articles using only physiotherapeutic techniques, mainly in Brazil, this review discussed the role of physical therapy on the IC, mainly manual therapy of pelvic floor (Thiele massage) and behavior therapy to relieve the symptoms and improve the quality of life

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OBJETIVO:Descrever o caso clínico de paciente com Síndrome de Joubert associada a alterações renais. DESCRIÇÃO DO CASO: Paciente de dois meses de idade admitida com quadro hipotonia e hiperpneia. Ao exame físico, observaram-se, além da respiração irregular, movimentos oculares anormais e hipertensão arterial; não se evidenciaram alterações na ausculta cardíaca e pulmonar. Durante investigação clínico-laboratorial inicial, as causas cardíacas e pulmonares foram descartadas. Aventaram-se hipóteses diagnósticas de patologias neurológicas com doença renal. Os exames laboratoriais mostraram presença de alcalose respiratória, acidose metabólica e hipercalemia, com função renal normal. A ressonância magnética evidenciou alterações neurológicas compatíveis com "sinal do dente molar", quadro frequentemente associada à Sindrome de Joubert. Levando-se em consideração a associação dessa síndrome com alterações renais, a investigação nefrológica demonstrou imagens císticas em parênquima renal. COMENTÁRIOS: Patologias cardíacas e pulmonares estão frequentemente associadas a manifestações clínicas como taquipneia e distúrbios metabólicos. Entretanto, pode ser necessária uma investigação neurológica porque diversas doenças que acometem o sistema nervoso central apresentam tais alterações. A associação entre alterações renais e malformações de sistema nervoso central é frequente em diversos processos sindrômicos, justificando-se a sua investigação. A Síndrome de Joubert e as desordens a ela relacionadas caracterizam-se por aplasia do vermix cerebelar, ataxia, movimentos oculares anormais, respiração irregular e retardo do desenvolvimento neuropsicomotor. As alterações renais mais comuns são os cistos renais e a nefronoftise, que pode progredir para doença renal terminal.

OBJECTIVE:To describe the case of a patient with Joubert syndrome associated with renal impairments. CASE DESCRIPTION: A 2 month-old patient was admitted with hypotonia and hyperpneia. At the physical exam, besides irregular breathing pattern, abnormal eye movements and arterial hypertension without abnormalities in cardiac or pulmonary sounds were observed. At the initial clinical and laboratorial investigations, cardiac and pulmonary causes were excluded. The diagnostic hypothesis was: neurological illness associated with renal disease. Laboratorial analysis showed respiratory alkalosis, metabolic acidosis and hyperkalemia, with normal renal function. In the magnetic resonance, images of neurological alterations were compatible with the "molar tooth sign", frequently associated with Joubert syndrome. Renal investigation was performed and cystic images in renal parenchyma were found. COMMENTS: Cardiac and pulmonary illness are frequently associated with clinical manifestations such as tachypnea and metabolic alterations. Nevertheless, neurological investigation may be necessary, since some diseases that affect the central nervous system may manifest these signs and symptoms. Association between renal alterations and central nervous system malformations are frequent in several diseases and should be investigated. Joubert syndrome and its associated disorders are characterized by aplasia of the cerebellar vermis, ataxia, abnormal eye movements and irregular breathing pattern with psychomotor and mental delay. The most frequent renal problems associated with the disease are renal cysts and nephronophtisis that can progress to end-stage renal failure.

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