Brain Magnetic Resonance Imaging Findings in Patients with Mucopolysaccharidosis VI

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2012 Nov 27

PMID 23179553

Citations 6

Authors

Ana C M Azevedo

Osvaldo Artigalas

Leonardo Vedolin

Marcia Komlos

Adriana Pires

Roberto Giugliani

Ida Vanessa D Schwartz

Affiliations

Soon will be listed here.

Abstract

Introduction: Mucopolysaccharidosis type VI (MPS VI) is a rare lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine 4-sulfatase. MPS VI is usually considered as not being associated with mental retardation.

Aims/methods: The main objective of the present study was to describe brain magnetic resonance imaging (MRI) findings and their correlation with clinical and biochemical findings in MPS VI patients. The study was conducted at Hospital de Clínicas de Porto Alegre, Brazil with 25 MPS VI patients. All patients were evaluated through clinical evaluation, IQ tests, urinary glycosaminoglycans (GAG) analysis, and brain MRI.

Results: Mean age at evaluation was 10.6 ± 4.52 years. Five of 16 patients presented total IQ below the normal range. Brain MRI was abnormal in the majority of patients (n = 19/21), and the most frequent abnormalities found were the presence of dilated perivascular spaces and white matter lesions. Correlations were found between age and normalized white matter lesion load (NLL) (r = 0.46; p = 0.04) and normalized cerebral volume (NCV) (r = -0.56; p = 0.01), between NLL and height deficit (r = 0.48; p = 0.04), and between NCV and weight deficit (r = -0.58; p = 0.01) and height deficit (r = -0.55; p = 0.01). A correlation between urinary GAG levels and quantitative brain MRI findings was not found, neither between qualitative and quantitative brain MRI findings and IQ scores.

Conclusions: MPS VI patients may present abnormal IQ scores without correlation with brain abnormalities on the MRI, a finding which was found to be very frequent in MPS VI. Additional studies are required to confirm our findings.

Citing Articles

The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.

Wiesinger A, Bigger B, Giugliani R, Scarpa M, Moser T, Lampe C Front Pharmacol. 2022; 13:863667.

PMID: 35645812 PMC: 9136158. DOI: 10.3389/fphar.2022.863667.

Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.

Stepien K, Bentley A, Chen C, Dhemech M, Gee E, Orton P Front Cardiovasc Med. 2022; 9:839391.

PMID: 35321113 PMC: 8935042. DOI: 10.3389/fcvm.2022.839391.

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.

Inci A, Okur I, Tumer L, Biberoglu G, Oktem M, Ezgu F Orphanet J Rare Dis. 2021; 16(1):438.

PMID: 34666789 PMC: 8524901. DOI: 10.1186/s13023-021-02060-4.

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management.

Zhou J, Lin J, Leung W, Wang L Intractable Rare Dis Res. 2020; 9(1):1-9.

PMID: 32201668 PMC: 7062595. DOI: 10.5582/irdr.2020.01011.

Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI.

Bulut E, Pektas E, Sivri H, Bilginer B, Umaroglu M, Ozgen B Br J Radiol. 2018; 91(1085):20170744.

PMID: 29376740 PMC: 6190778. DOI: 10.1259/bjr.20170744.

References

De Jong J, Wevers R . Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem. 1992; 38(6):803-7. View

da Rocha A, da Costa Leite C, Rocha F, Massad E, Cerri G, de Oliveira Angelotti S . Mental retadation: a MRI study of 146 Brazilian children. Arq Neuropsiquiatr. 2006; 64(2A):186-92. DOI: 10.1590/s0004-282x2006000200003. View

Vedolin L, Schwartz I, Komlos M, Schuch A, Azevedo A, Vieira T . Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings. Neurology. 2007; 69(9):917-24. DOI: 10.1212/01.wnl.0000269782.80107.fe. View

Calleja Gero M, Gonzalez Gutierrez-Solana L, Lopez Marin L, Lopez Pino M, Fournier Del Castillo C, Duat Rodriguez A . Neuroimaging findings in patient series with mucopolysaccharidosis. Neurologia. 2011; 27(7):407-13. DOI: 10.1016/j.nrl.2011.10.007. View

Azevedo A, Schwartz I, Kalakun L, Brustolin S, Burin M, Beheregaray A . Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet. 2004; 66(3):208-13. DOI: 10.1111/j.1399-0004.2004.00277.x. View

VESTERMARK S, Tonnesen T, Andersen M, Guttler F . Mental retardation in a patient with Maroteaux-Lamy. Clin Genet. 1987; 31(2):114-7. DOI: 10.1111/j.1399-0004.1987.tb02779.x. View

Harmatz P, Giugliani R, Schwartz I, Guffon N, Leao Teles E, Clara Sa Miranda M . Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on,.... J Pediatr. 2006; 148(4):533-539. DOI: 10.1016/j.jpeds.2005.12.014. View

Vedolin L, Schwartz I, Komlos M, Schuch A, Puga A, Pinto L . Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. AJNR Am J Neuroradiol. 2007; 28(6):1029-33. PMC: 8134159. DOI: 10.3174/ajnr.A0510. View

Malm G, Lund A, Mansson J, Heiberg A . Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr. 2008; 97(11):1577-81. DOI: 10.1111/j.1651-2227.2008.00965.x. View

10.

Matheus M, Castillo M, Smith J, Armao D, Towle D, Muenzer J . Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology. 2004; 46(8):666-72. DOI: 10.1007/s00234-004-1215-1. View

11.

Vougioukas V, Berlis A, Kopp M, Korinthenberg R, Spreer J, Van Velthoven V . Neurosurgical interventions in children with Maroteaux-Lamy syndrome. Case report and review of the literature. Pediatr Neurosurg. 2001; 35(1):35-8. DOI: 10.1159/000050383. View

12.

Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C . Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2006; 28(6):1011-7. DOI: 10.1007/s10545-005-0112-z. View

13.

Valayannopoulos V, Nicely H, Harmatz P, Turbeville S . Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010; 5:5. PMC: 2873242. DOI: 10.1186/1750-1172-5-5. View

14.

Karageorgos L, Brooks D, Pollard A, Melville E, Hein L, Clements P . Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat. 2007; 28(9):897-903. DOI: 10.1002/humu.20534. View

15.

Harmatz P, Ketteridge D, Giugliani R, Guffon N, Leao Teles E, Clara Sa Miranda M . Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human.... Pediatrics. 2005; 115(6):e681-9. DOI: 10.1542/peds.2004-1023. View

16.

Durkin M, Hasan Z, Hasan K . Prevalence and correlates of mental retardation among children in Karachi, Pakistan. Am J Epidemiol. 1998; 147(3):281-8. DOI: 10.1093/oxfordjournals.aje.a009448. View

17.

Wicker G, Prill V, Brooks D, GIBSON G, Hopwood J, von Figura K . Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B. J Biol Chem. 1991; 266(32):21386-91. View

18.

Sa G, Teixeira J, Cruz R, Barbot C, Martins E . [Neuroimaging features in mucopolysaccharidosis: their correlation with mental retardation]. Rev Neurol. 2006; 43(12):760-2. View

19.

Giugliani R, Harmatz P, Wraith J . Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007; 120(2):405-18. DOI: 10.1542/peds.2006-2184. View

20.

Thorne J, Javadpour M, Hughes D, Wraith E, Cowie R . Craniovertebral abnormalities in Type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). Neurosurgery. 2001; 48(4):849-52; discussion 852-3. DOI: 10.1097/00006123-200104000-00031. View