Síndrome de persona rígida: presentación de caso clínico y abordaje terapéutico / Stiff man Syndrome Clinical case presentation and therapeutic approach

Introducción: El síndrome del hombre rígido representa una rara enfermedad neuromuscular caracterizada por rigidez muscular progresiva y espasmos musculares dolorosos que afecta a 1 persona por cada millón de habitantes por año en el mundo. En la mayoría de los pacientes se encuentran niveles elevados de anticuerpos descarboxilasa del ácido glutámico. En Colombia solo se han publicado alrededor de 3 casos, lo que motiva la presentación de un nuevo informe que aporte a la discusión actual en el campo de la neurología clínica. Caso clínico: Paciente de sexo femenino de 35 años con cuadro clínico progresivo de varios años, caracterizado por contracciones paroxísticas dolorosas, parestesias y pérdida de fuerza. Se documentó la presencia de anticuerpos anti-GAD compatibles con el síndrome del hombre rígido. Tras un tratamiento integral, que incluyó la infusión farmacológicamente intratecal con baclofeno, se obtuvo mejoría clínica en el índice de Barthel. Conclusiones: El síndrome del hombre rígido es una condición infradiagnosticada que se asocia a un deterioro de la calidad de vida de quienes lo padecen.

Introduction: Stiff man syndrome represents a rare neuromuscular disease characterized by progressive muscle rigidity and painful muscle spasms that affects 1 person for every million habitants per year in the world. High levels of glutamic acid antibodies decarboxylase are found in most patients. In Colombia, only around 3 cases have been published, which motivates the presentation of a new report that contributes to the current discussion in the field of clinical neurology. Clinical Case: 35-year-old female patient with a progressive clinical picture of several years, characterized by painful paroxysmal contractions, paresthesias and loss of strength. The presence of anti-GAD antibodies was documented, compatible with Stiff man syndrome. After comprehensive treatment, which included pharmacologically intrathecal infusion with baclofen, clinical improvement was obtained in the Barthel index. Conclusions: Stiff man syndrome is an underdiagnosed condition which is associated with a deterioration in the quality of life for those who suffer from it.

Síndrome de persona rígida confundido por trastorno conversivo: un error común. caso clínico / Stiff-person syndrome mistaken for conversive disorder: a common error

Stiff-person syndrome is characterized by persistent muscle spasms, involving agonist and antagonist muscles simultaneously, starting in the lower limbs and trunk. It tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that later become continuous and usually painful. Minor sensory stimuli, such as noise or light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. We present a case that for two years was diagnosed and treated as a conversion disorder associated with depression. After two years she was admitted to another hospital with an unmistakable picture of stiff-person syndrome with hypertrophy and rigidity of lower limb muscles, compatible electrophysiology and positive anti-GAD antibodies. She had autoimmune hypothyroidism, that should have raised the suspicion of stiff-person syndrome earlier. She responded to intravenous immunoglobulin and mycophenolate mofetil and and to tranquilizers that have muscle relaxant properties.

Síndrome de la persona rígida / Stiff-man syndrome

El síndrome de la persona rígida es un trastorno neurológico infrecuente y desconcertante, caracterizado por contractura progresiva, rigidez y espasmos dolorosos que afectan la musculatura axial, lo que imposibilita la deambulación del paciente. Se presenta un paciente masculino de 22 años de edad con manifestaciones clínicas y electromiográficas compatibles con esta entidad nosológica. El tratamiento descrito para la enfermedad no produjo mejoría de los síntomas. Con respecto a los casos descritos en la literatura científica, es el primer paciente con diagnóstico de síndrome de la persona rígida que ha recibido una dosis de diazepam de 500 mg diarios por vía oral sin efectos adversos y una dosis en bolo de propofol de 800 mg para lograr la relajación muscular(AU)

Stiff-Man Syndrome is an uncommon and disturbing neurological disorder characterized by progressive contracture, stiffness and painful spasms that affect the axial musculature, making it impossible for the patient to walk around. We present a 22-year-old male patient with clinical and electromyographic manifestations compatible with this nosological disease. The treatment described for the disease did not produce an improvement in symptoms. Regarding the cases described in the scientific literature, this is the first patient diagnosed with Stiff-Man Syndrome who has received a dose of diazepam of 500 mg daily orally without adverse effects and a bolus dose of 800 mg of propofol to achieve muscle relaxation(AU)

Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series / Distúrbios neurológicos associadas a anticorpos anti-GAD (descarboxilase do ácido glutâmico): uma série de casos brasileira

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.

Distúrbios neurológicos associados com anticorpos anti-GAD são doenças pleomórficas, raras, de causa incerta, das quais a rigidez muscular espasmódica (SPR) é a mais conhecida. Neste estudo, descrevemos nove casos consecutivos de distúrbios neurológicos associados com a presença de anticorpos anti-GAD, incluindo nove pacientes com SPR e três casos com ataxia cerebelar. Adicionalmente, foram encontrados quatro casos com hipotireoidismo, três com epilepsia, dois com diabetes mellitus e dois casos com mioclonia axial.

Neonatal hyperekplexia: the Stiff-Baby syndrome.

Neonatal hyperekplexia is a rare autosomal dominant startle disorder. Presenting soon after birth, it is often mistakenly diagnosed as spastic quadriparesis, epilepsy etc. While the long-term prognosis is relatively benign, sudden death due to severe spasms have been seen in sporadic cases. We report a case of hyperekplexia with some typical and some unusual findings.

Stiff person syndrome.

This communication considers a patient with episodic muscle spasms. Pharmacological intervention and electrophysiological studies provided adequate evidence confirming the diagnosis of stiff person syndrome. Electrophysiological studies in present communication similar to earlier reports, confirmed once again the autonomous state of the anterior horn cell in this disease process.

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

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

Síndrome de stiff-man e gravidez: relato de um caso / Stiff-man syndrome and pregnancy: report of a case

The Stiff-man syndrome is a condition characterized by the insidious onset of progressive rigidity of skeletal muscles with superimposed painfull spasms. Little is known aboute etiology and pathophysiology of this rare disorder, Several possible mechanisms have been suggested, but it seems to be a central nervous system disease. Pharmacology basis of therapeutic efficacy of diazepan is unknown. Here is reported a case of pregnancy in a patient with the nonheredítary stiff-man syndrome. In the bibliography rewiew made by the authors any data with this association was found.

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

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