[Chronic progressive external ophthalmoplegia: clinical and electromyographic manifestations in a series of cases]. / Oftalmoplejía externa progresiva crónica: manifestaciones clínicas y electromiográficas en una serie de casos.

INTRODUCTION: Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. The different conditions in this group of diseases overlap clinically, enzymatically and genetically. There is no effective treatment. Ptosis improves with corrective surgery involving tarsorrhaphy as a palliative measure. CASE REPORTS: Code numbers were examined in a retrospective study conducted in order to search for patients with ptosis or ophthalmoplegia who had either visited or been admitted to the neurology department over the last 10 years. Data concerning these patients' clinical features and results of complementary tests were collected. Six patients with CPEO were identified, five of whom were females. Ages ranged from 44 to 72 years. All the patients had ptosis, although 50% were asymmetric. Half of them reported mild dysphagia while swallowing liquids. Levels of creatine phosphokinase and acetylcholine antireceptor antibodies were normal. Half the patients showed increased jitter and a muscle biopsy revealed that five of them had ragged red fibres. The most frequent enzyme deficit was complex I and IV deficiency. There were no familial forms; the most common genetic anomaly was single deletion in the mitochondrial deoxyribonucleic acid. CONCLUSIONS: In cases of ptosis and ophthalmoplegia that do not respond to anticholinesterases, knowledge of this condition makes it possible to avoid the use of immunosuppressant drugs, which have important side effects.

Oftalmoplejía externa progresiva crónica: manifestaciones clínicas y electromiográficas en una serie de casos / Chronic progressive external ophthalmoplegia: clinical and electromyographic manifestations in a series of cases

Introducción. La oftalmoplejía externa progresiva crónica(CPEO) es una enfermedad mitocondrial común. Este grupode enfermedades presenta solapamiento clínico, enzimático y genéticoentre las diferentes entidades. No existe un tratamiento eficaz.La ptosis mejora con cirugía correctora de tarsorrafia comouna medida paliativa. Casos clínicos. Estudio retrospectivo en elque se busca por codificación a pacientes con ptosis u oftalmoplejíaen consultas o ingresados en neurología durante los últimos 10años. Se recogieron datos de la clínica y pruebas complementariasde estos pacientes. Se identificó a seis pacientes con CPEO; cincode ellos fueron mujeres. Sus edades estaban comprendidas entrelos 44 y los 72 años. Todos los pacientes presentaban ptosis, aunqueel 50% era asimétrica. La mitad refería disfagia leve paralíquidos. Los niveles de creatinfosfocinasa y de anticuerpos antirreceptoresde acetilcolina fueron normales. Existía un aumentodel jitter en la mitad de los pacientes y fibras rojas rasgadas en labiopsia muscular de cinco de ellos. El déficit enzimático más frecuentefue el de los complejos I y IV. No existieron formas familiares;la anomalía genética más común fue la deleción única en elácido desoxirribonucleico mitocondrial. Conclusión. El conocimientode esta entidad permite, en casos de ptosis y oftalmoplejíaque no responden a anticolinesterásicos, evitar el uso de medicacionesinmunosupresoras con efectos secundarios importantes

Introduction. Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. Thedifferent conditions in this group of diseases overlap clinically, enzymatically and genetically. There is no effective treatment.Ptosis improves with corrective surgery involving tarsorrhaphy as a palliative measure. Case reports. Code numbers wereexamined in a retrospective study conducted in order to search for patients with ptosis or ophthalmoplegia who had eithervisited or been admitted to the neurology department over the last 10 years. Data concerning these patients' clinical featuresand results of complementary tests were collected. Six patients with CPEO were identified, five of whom were females. Agesranged from 44 to 72 years. All the patients had ptosis, although 50% were asymmetric. Half of them reported mild dysphagiawhile swallowing liquids. Levels of creatine phosphokinase and acetylcholine antireceptor antibodies were normal. Half thepatients showed increased jitter and a muscle biopsy revealed that five of them had ragged red fibres. The most frequentenzyme deficit was complex I and IV deficiency. There were no familial forms; the most common genetic anomaly was singledeletion in the mitochondrial deoxyribonucleic acid. Conclusions. In cases of ptosis and ophthalmoplegia that do not respondto anticholinesterases, knowledge of this condition makes it possible to avoid the use of immunosuppressant drugs, which haveimportant side effects