Emery-Dreifuss (ED) syndrome is a condition characterized by early onset contractures, progressive weakness in humero-peroneal muscles and cardiomiopathy with conduction block. We describe a 33-year-old man patient who began to complain about acute left-hand weakness the day prior to hospital admission. There was no family history of neuromuscular disorders and no stroke factor risk. The parents, in the past medical history, referred to a childhood onset slowly progressive difficult ambulation and wasting in both arms and legs. Deltoid muscle histology in 1990 showed mixed patterns of chronic neurogenic and myopathic changes. Neurological examination showed left hemiparesis-hemihypoesthesia with hand ataxia, mild dysarthria and bilaterally symmetric, marked humero-peroneal muscles atrophy, and Achilles tendon and elbow retraction with neck posterior contracture. CT scan in the emergency room was normal. ED diagnosis was suspected and therefore the patient, with electrocardiographic evidence of atrial fibrillation, was transferred to a coronary unit. He showed a normal carotid ultrasound Doppler sonography and mild cardiac dilatation at echocardiography. Three days after onset of symptoms CT scan showed a right fronto-parietal hypodense area. The patient underwent oral anticoagulant treatment because ischemic stroke cardioembolic source was presumed. Absence of sensory action potentials in the sural nerve bilaterally and mixed pattern myogenic and neurogenic needle electromyography findings were demonstrated. Five days after admission to the hospital, electrocardiographic monitoring showed arrhythmias with atrioventricular block (III°) and a pacemaker was implanted. Genetic analysis confirmed sporadic/recessive autosomic ED syndrome with G746A/R249Q (exon 4) mutation in the LMNA gene(1) with normal emerin expression. In conclusion, although ED is a relatively rare disorder, it is very important to recognize it, to permit treatment of complex cardiomyopathy and prevent stroke.
|Issue number||4 SUPPL.|
|Publication status||Published - 2000|
ASJC Scopus subject areas
- Clinical Neurology