Abstract

ALBUQUERQUE, Rafaella Montana Lago et al. Electroencephalographic features in children with mucopolysaccharidosis. J. epilepsy clin. neurophysiol. [online]. 2010, vol.16, n.4, pp. 162-166. ISSN 1676-2649.  http://dx.doi.org/10.1590/S1676-26492010000400008.

INTRODUCTION: Mucopolysaccharidosis is a rare hereditary disease of autosomal recessive, caused by enzyme deficiency. Among the most frequent clinical manifestations are the umbilical and inguinal hernias, hirsutism, changes in the nose and lip, opacity of the cornea, joint limitations, hepatosplenomegaly, dysostoses, growth retardation and cognitive delay. The aim of our study was to analyze the main aspects EEG of patients with MPS. METHODS: Retrospective clinical study. RESULTS: Participated in the study 16 patients with mean age of 10.3 years, and 11 (68.8%) were male. Four patients (25%) were classified as MPS type I, seven (43.8%) as MPS type II, one (6.3%) as MPS type III, one (6.3%) as MPS type IV and three (18.6%) as MPS type VI. Four (25%) children had a previous diagnosis of epilepsy. Regarding the EEG, the background activity was normal in six (40%), generalized discharges in one (6.7%) and focal or multifocal discharges in two cases (13.3%). CONCLUSION: Although seizures are not among the most common clinical manifestations of mucopolysaccharidosis, the EEG should be routinely performed during neurological research in this syndrome. There is a clear predominance of nonspecific EEG abnormalities, although epileptogenic paroxysms may be found in children with mucopolysaccharidosis with or without epilepsy.

Keywords : Mucopolysaccharidosis; epilepsy; electroencephalogram.