Clinical and Neuroradiological Follow-Up in Mucopolysaccharidosis Type III (Sanfilippo Syndrome)

Abstract

Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain magnetic resonance imaging (MRI). Our results suggest that in MPS III patients MRI findings, including atrophy and abnormal or delayed myelination, may precede the onset of overt neurological symptoms. The increasing neurological morbidity is accompanied by different degrees of progressive atrophic changes, mainly affecting the cerebral cortex and the corpus callosum. However, it appears that, across subjects, the rate of MRI changes is unrelated to the severity of the clinical phenotype. On this basis it could be argued that in MPS III the worsening of the neurological symptoms might not necessarily reflect only the progressive cerebral abnormalities detectable by MRI.

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

“…Many researchers came to the conclusion that the presence and extension of imaging abnormalities do not correspond to the severity of mental retardation. This lack of correlation was consistent for WMA, 11,12,14,20,21,23,25,38,41 enlargement of the PVS, 10,12,18,23 cerebral atrophy, 12,26,41 and ventriculomegaly. 12,26 On the other hand, a significant number of studies did find more severe neuroimaging abnormalities in patients with impaired cognitive profiles.…”

“…23,34 Although prominent in most patients with MPS, this feature is nonspecific because it was found in numerous pathologic conditions and healthy subjects as well. 35 Enlarged PVS have been described so far in MPS I, [10][11][12][13]15,[17][18][19]36 II, 10,12,13,18,[20][21][22][23]27,37 IIIA, 10,38,39 IIIB, 28,40,41 and VI. 16,18,19,30 In general, children with MPS I and II show the most profound enlargement of PVS, giving rise to a ''sieve-like" appearance.…”

Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

“…Neurodegeneration ultimately leads to a vegetative state [2]. MRI findings include cerebral atrophy, abnormal or delayed myelination and dilatation of perivascular spaces [3]. Over time, airway obstruction and/or pulmonary infection can lead to cardiopulmonary arrest.…”

Avaliação do perfil psiquiátrico de pacientes com mucopolissacaridoses

“…A deficiência enzimática resulta em alterações na função celular devido ao acúmulo excessivo de glicosaminoglicanos (GAGS) parcialmente degradados no interior das células, especialmente nas áreas subendoteliais de diversos órgãos e tecidos (Barone, Nigro, Triulzi, Musumeci, Fiumara, & Pavone, 1999). Os GAGS também são eliminados na urina dos pacientes afetados.…”

“…Dificuldades motoras crescentes devido à espasticidade e à rigidez articular marcam o terceiro estágio da doença, começando a partir dos cerca de 10 anos de idade (Cleary & Wraith, 1993) (Barone, Nigro, Triulzi, Musumeci, Fiumara, & Pavone, 1999). Foi descrita em 1929, apresentando fisionomia discretamente grosseira, cifose e genu valgo acentuados e opacificação corneana (Jones, 1997).…”