ABSTRACT
AIM: To report a new case of a little-known congenital myopathy. Cap myopathy is a rare congenital disease caused by an alteration in the structure of the fibre, with disorganised myofibrils at the edges. Since it was first described, only a few cases have been reported in the literature. CASE REPORT: We describe the case of a 16-year-old patient with a history of neonatal hypotonia and psychomotor retardation. At the age of 4 years, the patient presented myopathic facies with atrophied pectoral muscles, winged scapula and lumbar hyperlordosis. A myopathic pattern was observed in the electromyogram. A muscle biopsy showed a very marked predominance of type I fibres, atrophy in part of the population of this type and 20% of them had cap-shaped subsarcolemmal accumulations, which were intensely positive with DPNH and SDH; in the ultrastructural study they correspond to disorganised peripheral myofibrils with preservation of the Z band and the absence of A bands. These alterations are similar to those described in what is known as cap disease or cap myopathy. Today, the patient has mild proximal tetraparesis and moderate restrictive respiratory failure.
Subject(s)
Muscle Fibers, Slow-Twitch/pathology , Muscle Hypotonia/congenital , Muscle, Skeletal/abnormalities , Myofibrils/ultrastructure , Abnormalities, Multiple/genetics , Disease Progression , Facial Muscles/abnormalities , Follow-Up Studies , Humans , Infant, Newborn , Intellectual Disability/genetics , Male , Muscle Fibers, Slow-Twitch/enzymology , Muscle Hypotonia/pathology , Muscle Proteins/analysis , Muscle, Skeletal/embryology , Muscle, Skeletal/enzymology , Muscle, Skeletal/pathology , Muscular Atrophy/pathology , Quadriplegia/etiology , Respiratory Insufficiency/etiology , Sarcolemma/ultrastructure , Staining and LabelingABSTRACT
Presentar un nuevo caso de una miopatía congénita poco conocida. La miopatía en gorra es una rara enfermedadcongénita, debida a una alteración en la estructura de la fibra, con las miofibrillas desorganizadas en la periferia. Desde su primera descripción, sólo se han publicado unos pocos casos. Caso clínico. Adolescente de 16 años con antecedentes de hipotonía neonatal y retraso psicomotor. A los 4 años presenta facies miopática con atrofia de pectorales, escápula aladae hiperlordosis lumbar. En el electromiograma se observa un patrón miopático. La biopsia muscular demuestra un predominio muy marcado de fibras tipo I, atrofia de parte de la población de este tipo y presencia en el 20% de ellas de acúmulos subsarcolemales en forma de casquete, intensamente positivos con DPNH y SDH; en el estudio ultraestructural correspondena miofibrillas periféricas desorganizadas con conservación de la banda Z y ausencia de bandas A. Estas alteraciones son similares a las descritas bajo el nombre de cap disease o miopatía en gorra. Actualmente el paciente presenta una tetraparesiaproximal leve y una insuficiencia respiratoria restrictiva moderada
To report a new case of a little-known congenital myopathy. Cap myopathy is a rare congenital diseasecaused by an alteration in the structure of the fibre, with disorganised myofibrils at the edges. Since it was first described, only a few cases have been reported in the literature. Case report. We describe the case of a 16-year-old patient with a history of neonatal hypotonia and psychomotor retardation. At the age of 4 years, the patient presented myopathic facies with atrophiedpectoral muscles, winged scapula and lumbar hyperlordosis. A myopathic pattern was observed in the electromyogram. A muscle biopsy showed a very marked predominance of type I fibres, atrophy in part of the population of this type and 20% of them had cap-shaped subsarcolemmal accumulations, which were intensely positive with DPNH and SDH; in the ultrastructuralstudy they correspond to disorganised peripheral myofibrils with preservation of the Z band and the absence of A bands. These alterations are similar to those described in what is known as cap disease or cap myopathy. Today, the patient has mild proximal tetraparesis and moderate restrictive respiratory failure
Subject(s)
Humans , Male , Adolescent , Muscular Diseases/congenital , Musculoskeletal Abnormalities/diagnosis , Muscle Hypotonia/genetics , Myofibrils/geneticsABSTRACT
INTRODUCTION AND OBJECTIVE: Out of hospital sudden death constitutes a major sanitary problem. Early diagnosis and treatment are considered as the most important factors related with short term prognosis. However, there is little information about the outcome of patients admitted to the hospital after a successful recovery from an episode of sudden death outside the hospital. The objective of this study was to analyze the prognosis of patients who initially recovered after an episode of out-of-hospital cardiac arrest and who were admitted to the coronary or intensive care unit. PATIENTS AND METHODS: The clinical characteristics and outcome of 110 consecutive patients admitted to the coronary and intensive care units after an episode of extrahospital sudden death, who initially recovered with success, were retrospectively studied. RESULTS: A total of 33 (30%) patients were discharged alive and without severe neurological damage, 67 (61%) patients died before discharge from hospital and 77 (70%) died or presented severe and permanent neurological damage. The latter group versus those who survived was older (63.6 +/- 13.5 vs 55.2 +/- 12.6 years old; p < 0.006) and had a longer delay in the beginning of cardiopulmonary resuscitation (8.3 vs 2.8 min.; p < 0.01). Mortality or severe neurological damage rate was higher in the group of those who had asystolia than in those with ventricular fibrillation in the first ECG (84% vs 55%), in those who arrived to the hospital unconscious (73.7% vs 15.4%) and in those who arrived in functional class IV (81% vs 16.6%). CONCLUSIONS: Up to 30% of the patients admitted after an episode of extrahospital cardiac arrest were discharged alive and without severe neurological damage. Advanced age, functional class IV and the delay of cardiopulmonary resuscitation are related to a unfavorable outcome.
