Manifestações Neurológicas em Doentes com Mucopolissacaridose: Série de Casos num Centro de Referência Português

Abstract

Introduction: Mucopolysaccharidoses are a group of lysosomal storage disorders, caused by deficiency of the enzymes necessary for the degradation of glycosaminoglycans, which leads to their accumulation in cells and tissues, resulting in tissue and organ dysfunction with multissistemic and progressive clinical manifestations. This study describes the neurological manifestations and the neuroimaging alterations in patients with mucopolysaccharidosis from a portuguese Reference Centre for Inborn Errors of Metabolism. Methods: This is a descriptive observational study of a case series of patients with mucopolysaccharidosis, evaluated in the last 25 years in the Pediatric Consultation of the Reference Center for Inborn Errors of Metabolism of a Level III University Hospital. Data were collected by consulting electronic clinical records, digitalized clinical files and complementary diagnostic exams. Results: Fifteen patients with mucopolysaccharidosis I, II, III, IV and VI were studied, with a current mean age of 19.7 years, symptom onset at 12 months and diagnosis at the third year of life. Delay/regression of psychomotor and/or cognitive development was observed in 80% of patients, spinal cord compression syndrome in 66.7%, sleep disorders in 53.5%, behavioral disorders in 46.7%, epilepsy in 40% and carpal tunnel in 33.3%. Vertebral morphological alterations were observed in 93.9%, endocanal stenosis in 80%, dilatation of perivascular spaces in 73.3%, cerebral atrophy and odontoid apophysis dysplasia in 66.7%, sella turcica with J configuration in 53.3%, white matter lesions in 40 % and communicating hydrocephalus in 26.7%. Conclusions: All patients with mucopolysaccharidoses present neurological manifestations, either due to the accumulation of heparan sulfate, or as a consequence of dysfunctions caused by the accumulation of other glycosaminoglycans in other tissues. Delay/regression of psychomotor and/or cognitive development and spinal cord compression syndrome are the most common neurological manifestations. Vertebral morphological changes and endocanal stenosis are the most frequent neuroimaging alterations. At the cerebrum, the dilatation of perivascular spaces and cerebral atrophy stand out. This knowledge allows guiding clinical practice and directing health resources towards early and effective responses.