Charcot-Marie-Tooth disease and posterior scleritis: a case report

Abstract

Purpose: To describe the unusual association of Charcot-MarieTooth disease (CMTD) and posterior scleritis.Methods: Case report of a 16-year-old female with decreased visual acuity and pain in both eyes.Results: Ophthalmologic examination showed a posterior scleritis, confirmed by ultrasound and angiofluoresceinography. Foot deformities and sensory dysfunction were identified in the patient and some of her relatives. The diagnosis of CMTD in this patient was confirmed by eletrophysiologic studies.Conclusions: The association of posterior scleritis in a patient with CMTD has never been reported. This is also the first description of an inflammatory ocular disease in these patients. Charcot-Marie-Tooth encompasses a group of inherited neuropathies characterized by a slowly progressive muscular atrophy with weakness and wasting of feet and leg muscles followed by hand involvement, first described in 1886 1 . Doença de CASE REPORTSixteen-year-old, black, female presented with decreased visual acuity and ocular pain in both eyes for one week.The ocular examination revealed a bilateral proptosis and the corrected visual acuity was 0.6 in the right eye and 0.1 in the left eye. Intraocular pressure and biomicroscopy were normal. Pupillary reflexes were slightly decreased in both eyes. Fundoscopy revealed bilateral serous retinal detachment in the posterior pole ( Figure 1A).Wasted legs with an "inverted champagne bottle" appearance were detected on the physical examination. Hammer toes, equinovarus feet and calluses over the pressure points were also present as well as muscle weakness and sensory dysfunction. Muscle stretch reflexes were absent. The familiar history showed similar foot deformities in her grandmother, uncles and father (Figure 2).An elevated (65 mm) first-hour sedimentation rate was observed. Ultrasound ( Figure 1B) and the angiofluoresceinography confirmed the diagnosis of bilateral posterior scleritis.The patient underwent eletrophysiologic studies that showed undetectable action potentials in the median, ulnar and sural sensory nerves. Prolonged distal latencies and reduced conductional velocities were RELATO DE CASO