Opioid-free general anesthesia and induced recovery from anesthesia in a patient with myotonic dystrophy type-1: a case report / Anestesia geral sem opioide e recuperação induzida da anestesia em paciente com distrofia miotônica tipo-1: relato de caso

Abstract Myotonic dystrophy type-1 (Steinert disease) is an autosomal dominant, progressive multisystem disease in which myotonic crisis can be triggered by several factors including pain, emotional stress, hypothermia, shivering, and mechanical or electrical stimulation. In this report, dexmedetomidine-based general anesthesia, in combination with a thoracic epidural for laparoscopic cholecystectomy in a patient with Steinert disease, is presented. An Aintree intubation catheter with the guidance of a fiberoptic bronchoscope was used for intubation to avoid laryngoscopy. Prolonged anesthetic effects of propofol were reversed, and recovery from anesthesia was accelerated using an intravenous infusion of theophylline.

Resumo A Distrofia Miotônica (DM) tipo-1 (Doença de Steinert) é uma doença multissistêmica progressiva autossômica dominante em que a crise miotônica pode ser desencadeada por vários fatores, incluindo dor, estresse emocional, hipotermia, tremores e estímulo mecânico ou elétrico. O presente relato descreve anestesia geral realizada com dexmedetomidina em combinação com peridural torácica para colecistectomia laparoscópica em paciente com Doença de Steinert. Para evitar laringoscopia, a intubação traqueal foi realizada utilizando cateter de intubação Aintree guiado por broncofibroscopia óptica. Os efeitos anestésicos prolongados do propofol foram revertidos e a recuperação anestésica foi acelerada pelo uso de infusão intravenosa de teofilina.

Taquicardia ventricular por reentrada rama - rama en pacientes con enfermedad de Steinert: serie de tres casos y revisión de la literatura / Bundle branch reentrant ventricular tachycardia in patients with Steinert´s disease: report of three cases and review of the literature

Resumen: Se presentan tres casos clínicos de pacientes con en Enfermedad de Steinert y Taquicardia ventricular recurrente asociada. En los 3 casos el diagnóstico involucró un exhaustivo estudio electrofisiológico que demostró que se trataban de TV rama a rama. Se describen los mecanismos y las maniobras electrofisiológicas para establecer el diagnóstico, como también el tratamiento. Incluye una extensa revisión bibliográfica.

Abstract This is a report of three patients with Steinert´s disease who presented with ventricular tachycardia requiring electrical cardioversion. Extensive electrophysiologic study demonstrated an underlying bundle branch ventricular tachycardia. The mechanisms and the electrophysiological approach to diagnosis are described in detail and the treatment selected is discussed. An extensive review of the literature is included.

Prepubertal gynecomastia: a rare manifestation of myotonic dystrophy type 1 / Ginecomastia pré-púbere: uma manifestação rara da distrofia miotônica tipo 1

ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.

RESUMO Objetivo: Apresentar o caso de um adolescente pré-púbere com ginecomastia bilateral e transtorno do espectro autista, diagnosticado com distrofia miotônica tipo 1. Descrição do caso: Adolescente do sexo masculino de 12 anos, com transtorno do espectro autista, observado em consulta de seguimento por crescimento mamário bilateral. O paciente tinha antecedentes familiares de ginecomastia, catarata em idade jovem, atraso pubertário e distrofia miotônica tipo 1. À observação física, apresentava ginecomastia bilateral estádio 1 de Tanner. O exame neurológico era normal, sem miotonia aparente. O estudo analítico mostrou níveis elevados de estradiol e da relação estradiol/testosterona. Após exclusão de causas endócrinas, o estudo molecular do gene DMPK confirmou o diagnóstico de distrofia miotônica tipo 1. Comentários: Perante um quadro de ginecomastia pré-púbere, deve-se excluir doenças subjacentes. Este caso reforça a importância de considerar o diagnóstico de distrofia miotônica tipo 1 na presença de manifestações endócrinas e do neurodesenvolvimento.

Supraclavicular nerve and superior trunk block for surgical treatment of clavicle fracture in a patient with Steinert's disease - Case report / Bloqueio do nervo supraclavicular e do tronco superior para tratamento cirúrgico de fratura de clavícula em paciente portador de doença de Steinert - Relato de caso

Abstract Background and objectives: Ultrasound-guided upper limb blocks may provide great benefits to patients with serious diseases. Patients with Steinert's disease have muscle weakness and risk of triggering myotony or malignant hyperthermia due to the use of anesthetic agents and surgical stress. The objective of this report was to demonstrate a viable alternative for clavicle fracture surgery with upper trunk and supraclavicular nerve block, thus reducing the spread of local anesthetic to the phrenic nerve in a patient with muscular dystrophy. Case report: A 53-year-old male patient with Steinert's disease, associated with dyspnea, hoarseness and dysphagia, referred to the surgical theater for osteosynthesis of clavicle fracture. Upper limb (1 mL 0.75% ropivacaine) and supraclavicular nerve block (1 mL 0.75% ropivacaine in each branch) were combined with venous anesthesia with propofol under laryngeal mask (infusion pump target of 4 mcg.mL-1). Upon awakening, the patient had no pain or respiratory complaints. He was transferred to the ICU for immediate postoperative follow-up with discharge from this unit after 24 h without complications. Conclusions: The superior trunk and cervical plexus block associated with venous anesthesia under laryngeal mask, without the use of opioids, proved to be adequate in the case of a patient with clavicle fracture and Steinert's disease. With the use of ultrasonography in regional anesthesia it is possible to perform increasingly selective blocks, thus allowing greater security for the anesthetic-surgical procedure and lower morbidity for the patient.

Resumo Justificativa e objetivos: Bloqueios seletivos dos membros superiores guiados por ultrassom podem trazer grandes benefícios em pacientes portadores de doenças graves. Pacientes portadores da doença de Steinert apresentam fraqueza muscular e riscos de desencadear miotonia ou hipertermia maligna devido ao uso de agentes anestésicos e ao estresse cirúrgico. O objetivo deste relato foi mostrar uma opção viável para a cirurgia de fratura de clavícula com bloqueio do tronco superior e nervo supraclavicular, diminui-se assim a dispersão do anestésico local para o nervo frênico em paciente com distrofia muscular. Relato de caso: Paciente do sexo masculino, 53 anos, portador de doença de Steinert, associada a dispneia, rouquidão e disfagia. Encaminhado ao bloco cirúrgico para osteossíntese de fratura de clavícula. Feito bloqueio de tronco superior (1 mL ropivacaína a 0,75%) e de nervo supraclavicular (1 mL de ropivacaína 0,75 em cada ramificação) associado à anestesia venosa com propofol sob máscara laríngea (alvo de 4 mcg.mL-1 em bomba de infusão). Ao despertar, o paciente apresentava-se sem dor ou queixas respiratórias. Admitido em CTI para acompanhamento do pós-operatório imediato com alta dessa unidade após 24 horas sem intercorrências. Conclusões: O bloqueio do tronco superior e do plexo cervical associado à anestesia venosa sob máscara laríngea, sem uso de opioides, mostrou-se adequado no caso de fratura da clavícula em paciente com doença de Steinert. Com o uso da ultrassonografia em anestesia regional é possível fazer bloqueios cada vez mais seletivos e possibilitar assim maior segurança para o procedimento anestésico-cirúrgico e menor morbidade para o paciente.

Taquicardia ventricular como expresión de distrofia miotónica tipo 1 / Type I myotonic dystrophy presenting with ventricular tachycardia

Abstracts: A 48-year-old woman was brought to the emergency room with ventricular tachycardia that was eventually terminated by cardioversion. Clinical and neurologic evaluation, including electromyography were highly suggestive of type I Myotonic Dystrophy and genetical studies confirmed the diagnosis. A discussion about the diagnostic procedures and management of the disease, especially the associated ventricular tachycardia, is included.

Múltiplas causas de síncope em pacientes com distrofia miotônica tipo I / Multiple causes of syncope in patients with myotonic dystrophy type I

A distrofia miotônica é a doença neuromuscular mais frequente na população adulta. Embora tenha caráter multissistêmico, apresenta especial predileção pelo sistema de condução cardíaco, manifestando-se tanto com bloqueios atrioventriculares como com taquiarritmias ventriculares e supraventriculares. O foco deste trabalho é apresentar, através do relato de um caso, a importância de uma investigação mais detalhada dos casos de síncope em pacientes portadores de distrofia miotônica, pois alterações inaparentes e potencialmente graves podem passar despercebidas

Myotonic dystrophy is the most frequent neuromuscular disease in the adult population. Although it is a multisystem disease, it usually has a special preference for the cardiac conduction system manifesting itself as atrioventricular conduction block and as ventricular and supraventricular tachyarrhythmias. The focus of this work is to use a case report to demonstrate the importance of a more detailed investigation of syncope in patients with myotonic dystrophy, since unapparent and potentially serious changes may go by unnoticed

Laparoscopic cholecystectomy under continuous spinal anesthesia in a patient with Steinert's disease / Colecistectomia laparoscópica sob raquianestesia contínua em paciente com doença de Steinert

ABSTRACT Steinert's disease is an intrinsic disorder of the muscle with multisystem manifestations. Myotonia may affect any muscle group, is elicited by several factors and drugs used in general anesthesia like hypnotics, sedatives and opioids. Although some authors recommend the use of regional anesthesia or combined anesthesia with low doses of opioids, the safest anesthetic technique still has to be established. We performed a continuous spinal anesthesia in a patient with Steinert's disease undergoing laparoscopic cholecystectomy using 10 mg of bupivacaine 0.5% and provided ventilatory support in the perioperative period. Continuous spinal anesthesia was safely used in Steinert's disease patients but is not described for laparoscopic cholecystectomy. We reported a continuous spinal anesthesia as an appropriate technique for laparoscopic cholecystectomy and particularly valuable in Steinert's disease patients.

RESUMO A doença de Steinert é uma desordem intrínseca do músculo com manifestações multissistêmicas. A miotonia pode afetar qualquer grupo muscular e é provocada por vários fatores e medicamentos usados em anestesia geral, como hipnóticos, sedativos e opiáceos. Embora alguns autores recomendem o uso de anestesia regional ou anestesia combinada com opiáceos em doses baixas, a técnica anestésica mais segura ainda precisa ser estabelecida. Administramos raquianestesia contínua em um paciente com doença de Steinert submetido à colecistectomia laparoscópica, com 10 mg de bupivacaína a 0,5%, e fornecemos suporte ventilatório no período perioperatório. A raquianestesia contínua foi usada com segurança em pacientes com doença de Steinert, mas não foi relatada em colecistectomia laparoscópica. Relatamos a raquianestesia contínua como uma técnica adequada para a colecistectomia laparoscópica e particularmente valiosa em pacientes com doença de Steinert.

Myotonic dystrophy type 1: frequency of ophthalmologic findings / Distrofia miotônica tipo 1: frequência dos achados oftalmológicos

ABSTRACT The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function. We reviewed the pathophysiology of cataract and low intraocular pressure (IOP). Method Patients were included after clinical and laboratory diagnosis and after signed informed consent. They were evaluated by Motor Function Measure scale, Portuguese version (MFM-P) and ophthalmic protocol. Results We evaluated 42 patients aged 17 to 64 years (mean 40.7 ± 12.5), 22 of which were men. IOP (n = 41) was reduced in all but one. We found cataract or positivity for surgery in 38 (90.48%) and ptosis in 23 (54.76%). These signs but not IOP were significantly correlated with severity of motor dysfunction. Abnormalities in ocular motility and stereopsis were observed. Conclusion Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. Reduced IOP is also common, but appears not to be related with motor impairment.

RESUMO O objetivo do estudo foi avaliar a frequência das anormalidades oftalmológicas em uma coorte de pacientes com distrofia miotônica tipo 1 (DM1) correlacionando-as à função motora. Revisamos a fisiopatogenia da catarata e baixa pressão intraocular (PIO). Método Os pacientes foram incluídos após diagnóstico clínico-laboratorial de DM1. Aqueles que assinaram o termo de participação foram avaliados pela escala medida da função motora, versão em português (MFM-P) e protocolo oftalmológico. Resultados Avaliamos 42 pacientes de 17 a 64 anos (média 40,7 ± 12,5), 22 do sexo masculino. Encontramos catarata ou positividade de cirurgia em 38 (90,48%) e blefaroptose em 23 (54,76%) e esses sinais foram correlacionados significativamente à maior gravidade da disfunção motora. Baixa PIO também foi comum e não correlacionada à gravidade motora. Alterações da motilidade ocular e de estereopsia ocorreram. Conclusão Catarata e ptose palpebral são frequentes na DM1 e associadas à gravidade motora. Baixa PIO é comum e parece ser independente da evolução motora.

Insuficiencia cardíaca secundaria a distrofia de Steinert / Congestive heart failure due to Steinert's muscular dystrophy: case report

Se presenta el caso de un hombre de 51 años, portador de Distrofia de Steinert, que desarrolla insuficiencia cardíaca congestiva e insuficiencia respiratoria. Se describe el tipo de compromiso cardíaco y la evolución del paciente y se discute la prevalencia de insuficiencia cardíaca en estos pacientes.

A 51 year old male with Steinert’s muscular dystrophy is admitted for congestive heart failure, along with his chronic respiratory insufficiency. Presenting findings, treatment and clinical course are described. The prevalence of heart failure in Steinert’s dystrophy is discussed.

Transient Complete Atrioventricular Block in a Preterm Neonate with Congenital Myotonic Dystrophy: Case Report

Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31(+4) weeks gestation with complete AV block at birth, who was diagnosed with CMD by Southern analysis. She recovered from complete AV block 32 hr after temporary transcutaneous pacing was applied. To the best our knowledge, this is the first recorded case of a complete AV block accompanied by CMD during the neonatal period. When a newborn has a complete AV block, the physician should consider the possibility of the CMD and conduct a careful physical examination.

Análisis de factores relacionados con hipercapnia crónica en la distrofia miotónica / Analysis of factors associated with chronic hypercapnia in patients with myotonic dystrophy

La distrofia miotónica (DM) es la distrofia muscular más común en adultos. Diversos factores pueden explicar la retención crónica de CO2. La selección de pacientes, diferentes estadios evolutivos y formas de evaluación, pueden explicar los resultados disímiles al respecto. Nuestros objetivos fueron caracterizar la función respiratoria y analizar los factores relacionados con la retención crónica de CO2 en la DM. Se incluyeron 27 pacientes ambulatorios consecutivos, estables clínicamente y se los agrupó como normocápnicos e hipercápnicos (PaCO2 ≥ 43 mm Hg). Se determinaron capacidad vital forzada (FVC), presiones estáticas máximas, tiempo de apnea voluntaria, escala de Epworth y gases arteriales. La quimiosensibilidad al CO2 se evaluó mediante la reinhalación de CO2 (método de Read). La pendiente ∆P0.1/∆PCO2 expresa la quimiosensibilidad al CO2. El 59.3% tenían hipercapnia. La FVC y la fuerza muscular respiratoria fueron normales o mostraron disminución leve a moderada, sin diferencias significativas en ambos grupos. La inadecuada respuesta al CO2 (pendientes ∆P0.1/∆PCO2 bajas (< 0.1 cmH2O/mm Hg) o planas) se asoció con hipercapnia (p < 0.005) y ésta significó un riesgo 11.6 veces mayor de inadecuada respuesta al CO2. El grupo con pendiente ∆P0.1/∆PCO2 baja-plana mostró mayor PaCO2 (p = 0.0017) y tiempo de apnea voluntaria más prolongado (p = 0.002). Concluimos que, en nuestros pacientes con DM, la hipercapnia crónica se asoció a la presencia de anomalías del control central de la respiración. Estos resultados permiten explicar los informes previos que describen la llamativa ocurrencia de insuficiencia respiratoria postoperatoria y las dificultades en el proceso de desvinculación de asistencia ventilatoria mecánica en estos pacientes.

Myotonic dystrophy (DM) is the most common dystrophy in adults. Several factors may explain the chronic CO2 retention. The selection of patients, different clinical stages and evaluation forms may explain the differing results obtained. Our objectives were to characterize respiratory function and to evaluate factors associated with chronic retention of CO2 in DM. We included 27 consecutive ambulatory and stable patients who were allocated into normocapnic and hypercapnic groups (PaCO2 ≥ 43 mmHg). Forced vital capacity (FVC), maximum static pressure, voluntary apnea time, Epworth scale and arterial blood gases were measured. The CO2 chemosensitivity was assessed using CO2 rebreathing (Read method). The slope ΔP0.1/ΔPCO2 expressed the CO2 chemosensitivity. A 59.3% (16/27) presented hypercapnia. FVC and respiratory muscle strength were normal or showed mild to moderate decrease. No significant differences in these variables were found in both groups. Inadequate response to CO2 (slope ΔP0.1/ΔPCO2 low (< 0.1 cm H2O/mmHg) or flat) was associated with hypercapnia (p < 0.005). Chronic retention of CO2 represented 11.56 times higher risk of inadequate response to CO2. The group with low-flat slope ΔP0.1/ΔPCO2 showed higher PaCO2 (p = 0.0017) and more prolonged voluntary apnea time (p = 0.002). We conclude that in our patients with DM, chronic CO2 retention was associated with the presence of abnormalities of the central control of breathing. Our results allow explaining previous reports describing the striking frequency of postoperative respiratory failure and difficulties in the process of weaning from mechanical ventilation.

A Case of Myotonic Dystrophy with Electrolyte Imbalance

Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene. DM1 is a variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and adrenal dysfunction are being reported. But, Electrolytes imbalance is a very rare condition in patients with DM1 yet. Herein we present a 42-yr-old Korean male of DM1 with abnormally elevated serum sodium and potassium. The patient had minimum volume of maximally concentrated urine without water loss. It was only cured by normal saline hydration. The cause of hypernatremia was considered by primary hypodipsia. Hyperkalemic conditions such as renal failure, pseudohyperkalemia, cortisol deficiency and hyperkalemic periodic paralysis were excluded. Further endocrine evaluation suggested selective hyperreninemic hypoaldosteronism as a cause of hyperkalemia.

A Case Report on 30-Week Premature Twin Babies with Congenital Myotonic Dystrophy Conceived by In Vitro Fertilization

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.

Distrofia miotônica de Steinert e hipersonia primária: relato de caso / Myotonic dystrophy of Steinert and primary hypersomnia: case report

Este artigo apresenta o caso de uma paciente com distrofia miotônica tipo 1 (DM1) (doença de Steinert) e faz a revisão de literatura sobre sonolência excessiva diurna (SED) nestes pacientes. Paciente de 36 anos, portadora de (DM1), apresenta SED e testes múltiplos de latência com média de latências de 1 minuto e 22 segundos. DM1 e SED podem ter várias etiologias, a ressaltar as devidas à disfunção no sistema nervoso central ou à miopatia. No caso da paciente, provavelmente predomina a SED de origem central.

This article presents the case of a myotonic dystrophy type 1 - Steinert's disease (DM1) patient and reviews the literature on excessive daytime sleepiness (EDS) in these patients. Patient of 36 years of age, with DM1, presents EDS and mean multiple sleep latency test of 1 minute and 22 seconds. DM1 and EDS can have some etiologies, mainly due to central nervous system dysfunction or to the myopathy. In the present case, probably predominate the SED of central origin.

Enfermedad de Steinert y embarazo: caso clínico / Steinert's disease and pregnancy: a case report

La enfermedad de Steinert es una enfermedad genética que se hereda con un patrón autosómico dominante, resultado de la expansión de la repetición de trinucleótidos CTG gen en el cromosoma 19, que codifica una proteína quinasa. Es una forma grave de distrofia muscular caracterizada por debilidad generalizada y degeneración muscular. El debut puede ocurrir en cualquier momento desde el nacimiento hasta la edad madura. Las complicaciones durante el embarazo son el aborto espontáneo, parto prematuro, el hidramnios, atonía uterina posparto, distocias intraparto y accidentes anestésicos. Presentamos el caso de una gestante de 37 años, asintomática con una anamnesis familiar sin patología de interés. Fue diagnosticada de diabetes gestacional y polihidramnios inespecífico en la semana 30 de embarazo. Acudió a nuestro centro en semana 35 de gestación por dinámica uterina y metrorragia. Se realizó una cesárea extrayéndose un feto masculino, con graves dificultades respiratorias y miotonía generalizada. Posteriormente, el neonato fue diagnosticado de enfermedad congénita de Steinert. El análisis genético de la madre reveló que ella padecía la misma enfermedad. El diagnóstico de enfermedad congénita de Steinert es muy difícil, sobretodo cuando los padres no son conscientes de la enfermedad. Nuestro objetivo es enfatizar en la importancia de una buena anamnesis y los marcadores que se pueden encontrar por ultrasonidos, como hidramnios, reducción del tono fetal y los movimientos activos, artrogriposis, micrognatia, que nos puede proporcionar al menos una sospecha prenatal.

Steinert's disease is a genetic condition, which is inherited in an autosomal dominant pattern, result from expansion of CTG trinucleotide repeat gene on chromosome 19, enconding a putative protein kinase. It is a severe form of muscular dystrophy marked by generalised weakness and muscular wasting. The onset can be any time from birth to middle age. The complications during pregnancy are miscarriage, premature labour, hydramnios, atonic postpartum hemorrhage, difficulties during delivery, anesthetic accidents. We report the case of a healthy 37 years old pregnant, with an ordinary family anamnesis. She was diagnosed of gestational diabetes and inespecific polyhydramnios during her 30 week of pregnancy. Due to labour contractions and metrorrhagia in the 35 week she came to our emergency department. She underwent a cesarean section delivery of a male baby, who suffered severe breathing difficulties and generalized myotonia. Afterwards, the baby was diagnosticated with Steinert's congenital disease. Following genetic analysis of the mother revealed that she also suffers Steinert's disease. The diagnosis of the congenital Steinert's disease is really difficult, when the parents are unaware of the disease. Our objective is to emphasize in the importance of a good anamnesis and the characters that can be found out by ultrasound like hydramnios, reduction of fetal tone and active movements, micrognathia, arthrogryposis, that can bring us at least to a prenatal suspicion.

Distrofia miotónica tipo I (enfermedad de steinert) y embarazo: descripción de un caso clínico / Myotonic distrophy type I (steinert disease) and pregnancy: a clinical case description

Type I myotonic dystrophy or Steinert's disease (DM1, OMIM 160900), is an autosomal dominant mulsystem disease of variable expresión caused by a (CTG)n, expansion mutation in the gene encoding for the myotonic dystrophy protein kinase (DMPK) in 19ql3. The disease is characterized by a phenomenon of anticipation, resulting in a more severe expression of the disease in successive generations, in correlation with the size of the triplet expansion. The congenital form of the disease, ussually of maternal transmisión, may cause polyhidramnios, foetal or neonatal death, or a sever neonatal floppy infant syndrome charaterized by facial diplegia, dysphagia, respiratory distress syndrome and a variable degree of mental retardation in 60 percent of the cases. The aim of this report is to describe a DM1 affecting a 35 years old woman and her fetus of 28 weeks of gestation at the moment of diagnosis. We describe the evolution of the pregnancy and her neonate, we discuss the reciprocal influence between pregnancy and the disease, enhacing the antenatal and neonatal complications.

La distrofia miotónica de Steinert o tipo I (DM1, OMIM 160900), es una enfermedad multisistémica, autosómica dominante de penetrancia variable, causada por la expansión del tupíete (CTG)n, en el gen que codifica para la proteína kinasa de la distrofia miotónica (DMPK) en el cromosoma 19ql3. La enfermedad se caracteriza por un fenómeno de anticipación, producto del cual su expresión es mayor en generaciones sucesivas y correlaciona con la talla de la expansión. La forma congénita de la enfermedad, habitualmente de transmisión materna puede producir polthidramnios, muerte fetal o neonatal o un síndrome hipotónico neonatal severo con diplegia facial, disfagia, distress respiratorio y retardo mental de grado variable en un 60 por ciento de los casos. El presente reporte tiene por objeto comunicar un caso de DM1 en una mujer de 35 años y en su feto de 28 semanas de gestación al momento del diagnóstico. Describimos la evolución del embarazo y del neonato, se discute la influencia recíproca entre la enfermedad y el embarazo, con énfasis en las complicaciones antenatales y neonatales.

A Case of Myotonic Dystrophy With Pigmentary Retinal Changes

A 46-year-old man presented with visual disturbances in both eyes. His best corrected visual acuity was 0.7 (both eyes). Ptosis and limitation of ocular movement in every direction were observed. Slit lamp examination showed a bilateral iridescent cataract. Fundus examination showed peripheral depigmentation of the retinal pigment epithelium and pigmentary clumping in both eyes that agreed with blocked fluorescence and widow defects on fluorescein angiography. The amplitude of b-wave was decreased on electroretinography. Fourteen months later, the patient's best corrected visual acuity decreased to 0.3 due to increased lens opacity. Phacoemulsification and intraocular lens implantation were performed on both eyes. At the patient's final visit, retinal findings were stable with a best corrected visual acuity of 0.7 in both eyes. In conclusion, the visual disturbance could have been caused by both cataracts and retinal degeneration, meaning the fundus should be examined carefully in patients with myotonic dystrophy.

Myotonic dystrophy in a patient of celiac disease: a new association?

Celiac disease (CD) has long been known to be associated with neurological and psychiatric manifestations; its in association with myotonic dystrophy however has not yet been reported. We report the case of a 27-year old female patient who presented to us with diarrhoea, weight loss, easy fatigability, irritability and alopecia of 8 months duration and was diagnosed to have celiac disease and put on gluten free diet. 8 weeks later she developed neurological symptoms and was found to have myotoni dystrophy in addition. At six month follow up patient had gained 5 kg, but the neurological symptoms remained the same. Treatment of neurological symptoms associated with gluten hypersensitivity depends on the type of neurological syndrome associated. Only exceptionally do these symptoms improve with gluten restriction and, in some patients, the neurological manifestations even progress despite resolution of both pathologic findings and intestinal symptoms.

Achados audiológicos em indivíduos com distrofia miotônica de Steinert / Audiologic findings in individuals with Steinert's myotonic dystrophy

Objetivo: Identificar as principais alterações audiológicas em indivíduos portadores de distrofia miotônica de Steinert. Métodos: Cinco indivíduos foram submetidos à audiometria tonal e vocal, imitanciometria, teste de função tubária, pesquisa do reflexo estapediano, declínio do reflexo acústico e aplicação de dois questionários: a) Desempenho da função auditiva; b) Investigação psico-acústica-social. Resultados: O estudo demonstrou que 60 por cento da amostra apresentaram limiares auditivos dentro dos padrões de normalidade, 10 por cento perda condutiva e 30 por cento perda auditiva nas freqüências altas. Em relação aos reflexos estapedianos, observou-se o percentual de alteração de 30 por cento nas freqüências de 0,5 e 1 kHz e de 40 por cento em 2 e 4 kHz. Observou-se declínio do reflexo acústico em 10 por cento da amostra nas freqüências de 0,5 e 1 kHz. Conclusão: O estudo mostrou que o padrão audiológico típico de perda auditiva em freqüências altas foi observado em 30 por cento da amostra.

Purpose: To identify the main hearing disorders in individuals with Steinert's myotonic dystrophy. Methods: Five individuals were submitted to tonal and vocal audiometry, acoustic impedance tests, examination of Eustaquian tube function, acoustic reflex investigation,and acoustic reflex decay. They also answered two questionnaires: a) Performance of auditory function; b) Psycho-acoustic-social investigation. Results: The study showed that 60 percent of the sample presented normal hearing thresholds, 10 percent had conductive hearing loss and 30 percent had hearing loss in high frequencies. Concerning acoustic reflexes, it was observed that 30 percent of the subjects presented deficits at 0.5 and 1 kHz and 40 percent at 2 and 4 kHz. Acoustic reflex decay was observed in 10 percent of the sample at 0,5 and 1 kHz. Conclusion: The study showed that the typical auditory profile of high-frequencies hearing loss was observed in 30 percent of the sample.

Distrofia miotônica e cardiopatia: comportamento dos eventos arrítmicos e dos distúrbios da condução / Myotonic dystrophy and heart disease: behavior of arrhythmic events and conduction disturbances

OBJETIVO: Estudar a prevalência e a evolução natural dos eventos arrítmicos e distúrbios da condução, correlacionar o defeito genético com achados cardiovasculares, avaliar a mortalidade cardíaca, freqüência e fatores preditivos de morte súbita, correlacionar a gravidade do envolvimento neuromuscular e cardíaco e definir o papel do estudo eletrofisiológico (EEF), na distrofia miotônica. MÉTODOS: Realizados periodicamente avaliação clínica e exames complementares, exame genético, eletrocardiograma, ecocardiograma e Holter (exceto exame genético) em 83 pacientes consecutivos com tempo médio de seguimento de 42±30,63 meses, sendo o estudo eletrofisiológico realizado em 59 casos. RESULTADOS: Taquiarritmia atrial foi observada em 10 (12 por cento) pacientes, taquicardia ventricular não sustentada (TVNS) em 14 (17 por cento), bloqueio átrio-ventricular (BAV) 1° grau em 24 (29 por cento), bloqueio de ramo esquerdo (BRE) em 19 (23 por cento), bloqueio de ramo direito (BRD) em 13 (16 por cento). Sintomas, aumento do intervalo PR, alargamento do QRS, fração de ejeção do ventrículo esquerdo (FEVE) <60 por cento e idade foram preditivos de óbito. Ocorreram 9 mortes (4 súbitas; 2 insuficiência cardíaca; 3 outras). EEF: HV>70ms em 34 por cento e >100ms em 11 por cento (pós-procainamida). CONCLUSÃO: A prevalência dos eventos arrítmicos e distúrbios da condução foi de 50 por cento a 80 por cento após 6 anos, não se correlacionando ao defeito genético, sendo o flutter atrial, a arritmia sustentada mais freqüente. O envolvimento cardíaco aumentou com a piora da doença neuromuscular, mas essa progressão foi mais rápida que a neuromuscular. A mortalidade total foi baixa (11 por cento) e morte súbita ocorreu em metade dos casos. EEF identificou grupo de risco para implante de marcapasso.