Avaliação das manifestações neurológicas de pacientes com Síndrome de Mórquio sob aspectos clínicos e radiológicos.

Abstract

Mucopolysaccharidosis IVA (MPS IVA) is a genetic condition caused by a mutation on the gene that codifies the enzyme N-acetyl-galactosamine-6-sulfatase. The neurologic evaluation through clinical examination and magnetic resonance imaging (MRI) in patients with MPS IVA, analyzing possible correlation between such parameters, was the goal of this study. It was performed a descriptive, observational and transversal study through data obtained from ten patients, in the age range of 11 to 48 years old (average 32,6 ±10,28 years), being six of them females and four of them male, with diagnosis confirmed by enzymatic dosage. Clinically, all patients presented hypotony on upper limbs and also alterations of muscle strength and on tendinous reflexes. Pain was also referred as a predominant complaint, being absent in only 1/10 (10%) patient. 1/10 (10%) presented axial ataxia and only 3/10 (30%) had sensitive disturbance, in proprioception or vibratory touch. On MRI, was observed spinal compression and spinal canal stenosis at cervical level, bulging disc and myelomalacia in all ten patients. Ligament thickening and thoracic spinal cord stenosis were described in 7/10 (70%) and 8/10 (80%) patients, respectively. The correlation between symptoms severity and MRI findings was not identified. Thus, the importance of the management with clinical and image associated, in the patients with MPS IVA, is emphasized, to identify evidences of severity on the neurological manifestations and the necessity of intervention, since the disease’s morbimortality is strongly related to neurological complications and its multifactorial etiology did not allow us to relate symptoms severity and MRI findings.