RESUMO
CASE: We report a right-handed 37-year-old woman, with myotonic dystrophy type 1 (MD1), presenting with a posterior interosseus nerve injury because of a penetrating trauma in the right forearm. The tendon transfer technique was chosen based on tendon response and functionality of the arms during the surgery. The patient has been able return to her daily life activities with proper fine and gross motor control. CONCLUSION: Despite tendon transfer surgery being a common technique for radial nerve palsy reconstruction, its use has not been extensively described in the literature in patients with muscular dystrophies such as MD1.
Assuntos
Distrofia Miotônica , Neuropatia Radial , Adulto , Feminino , Antebraço , Humanos , Distrofia Miotônica/complicações , Distrofia Miotônica/cirurgia , Neuropatia Radial/cirurgia , Transferência Tendinosa/métodosRESUMO
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.
Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Taquicardia Ventricular/cirurgia , Taquicardia Ventricular/complicações , Taquicardia Ventricular/diagnóstico , Distrofia Miotônica/complicações , Ecocardiografia , Resultado do Tratamento , Desfibriladores Implantáveis , Ablação por Cateter , EletrocardiografiaRESUMO
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.
Assuntos
Humanos , Feminino , Colecistectomia Laparoscópica/métodos , Analgésicos não Narcóticos , Dexmedetomidina , Anestesia Epidural/métodos , Anestesia Geral/métodos , Distrofia Miotônica/complicações , Teofilina/administração & dosagem , Período de Recuperação da Anestesia , Propofol , Broncoscópios , Analgésicos Opioides , Hipnóticos e Sedativos , Intubação Intratraqueal/métodos , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Analgésicos não Narcóticos , Anestesia Epidural/métodos , Anestesia Geral/métodos , Colecistectomia Laparoscópica/métodos , Dexmedetomidina , Distrofia Miotônica/complicações , Analgésicos Opioides , Período de Recuperação da Anestesia , Broncoscópios , Feminino , Humanos , Hipnóticos e Sedativos , Intubação Intratraqueal/métodos , Pessoa de Meia-Idade , Propofol , Teofilina/administração & dosagemRESUMO
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.
Assuntos
Ginecomastia/etiologia , Distrofia Miotônica/complicações , Transtorno do Espectro Autista/complicações , Criança , Estradiol/sangue , Genitália Masculina/anatomia & histologia , Ginecomastia/sangue , Humanos , Masculino , Distrofia Miotônica/sangue , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Miotonina Proteína Quinase/genética , Linhagem , Puberdade , Testosterona/sangueRESUMO
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.
Assuntos
Humanos , Masculino , Criança , Ginecomastia/etiologia , Distrofia Miotônica/complicações , Linhagem , Testosterona/sangue , Puberdade , Estradiol/química , Miotonina Proteína Quinase/genética , Transtorno do Espectro Autista , Genitália Masculina/anatomia & histologia , Ginecomastia/sangue , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Distrofia Miotônica/sangueRESUMO
INTRODUCTION: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized mainly by skeletal muscle alterations. Although oropharyngeal dysphagia is a prominent clinical feature of DM1, it remains poorly studied in its early disease stages. METHODS: Dysphagia was investigated in 11 presymptomatic DM1 carriers, 14 patients with DM1 and 12 age-matched healthy controls, by using fiberoptic endoscopic evaluation of swallowing (FEES) and clinical scores. RESULTS: Scores for the FEES variables, delayed pharyngeal reflex, posterior pooling, and postswallow residue were significantly greater in patients with DM1 and in presymptomatic DM1 carriers than in healthy controls (P < 0.05); oropharyngeal dysfunction was more severe in patients than in presymptomatic carriers. Penetration/aspiration was found altered exclusively in patients with DM1 (P < 0.05). DISCUSSION: Swallowing dysfunction occurs in presymptomatic DM1 carriers. Timely diagnosis of dysphagia in preclinical stages of the disease will aid in the timely management of presymptomatic carriers, potentially preventing medical complications. Muscle Nerve, 2019.
Assuntos
Doenças Assintomáticas , Transtornos de Deglutição/fisiopatologia , Distrofia Miotônica/fisiopatologia , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Transtornos de Deglutição/etiologia , Endoscopia do Sistema Digestório , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Distrofia Miotônica/complicações , Distrofia Miotônica/genética , Miotonina Proteína Quinase/genética , Adulto JovemRESUMO
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.
Assuntos
Humanos , Masculino , Clavícula/cirurgia , Clavícula/lesões , Fraturas Ósseas/cirurgia , Bloqueio do Plexo Braquial , Bloqueio do Plexo Cervical , Distrofia Miotônica/complicações , Fraturas Ósseas/complicações , Pessoa de Meia-IdadeRESUMO
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 (1mL 0.75% ropivacaine) and supraclavicular nerve block (1mL 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 24hours 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.
Assuntos
Bloqueio do Plexo Braquial , Bloqueio do Plexo Cervical , Clavícula/lesões , Clavícula/cirurgia , Fraturas Ósseas/cirurgia , Distrofia Miotônica , Fraturas Ósseas/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/complicaçõesRESUMO
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.