COSTA, G. L.; COSTA, GUILHERME LIMA.; FIGUEIREDO, L. Q.; http://lattes.cnpq.br/7654141498346806; http://lattes.cnpq.br/7666068400597239; COSTA, Guilherme Lima.; FIGUEIREDO, Letícia Queiroga de.
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.