Atypical Neuroimaging Findings in a Patient With Mucopolysaccharidosis Type VII (Sly Syndrome)

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2024 Sep 16

PMID 39280482

Authors

Purnachandra K Lamghare

Urvashi Agarwal

Tushar Kalekar

Karishma S Krishnani

Affiliations

Soon will be listed here.

Abstract

Mucopolysaccharidosis (MPS) consists of a heterogeneous group of multisystem disorders that are usually inherited. This spectrum consists of seven subtypes in total. Sly syndrome, also known as type VII MPS, is a multisystem disorder with a wide array of symptoms that overlap with other mucopolysaccharide disorders. Diagnosis of Sly syndrome relies on metabolic and radiological criteria. This report presents a case of a 19-year-old male who presented with seizures as his chief complaint. By metabolic workup done previously, he was diagnosed with Sly syndrome, an autosomal recessive mucopolysaccharide syndrome. This case underscores various multisystem features associated with the disease; however, it mainly highlights and emphasizes the diverse neurological features, including typical and atypical neuroimaging in Sly syndrome, aiding in its characterization, early diagnosis, and management.

References

Parker E, Xing M, Moreno-De-Luca A, Harmouche E, Terk M . Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. Br J Radiol. 2013; 87(1033):20130467. PMC: 3898971. DOI: 10.1259/bjr.20130467. View

Cheng Y, Verp M, Knutel T, Hibbard J . Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis. J Perinat Med. 2004; 31(6):535-7. DOI: 10.1515/JPM.2003.083. View

Rasalkar D, Chu W, Hui J, Chu C, Paunipagar B, Li C . Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol. 2011; 84(1001):469-77. PMC: 3473658. DOI: 10.1259/bjr/59197814. View

Takahashi Y, Sukegawa K, Aoki M, Ito A, Suzuki K, Sakaguchi H . Evaluation of accumulated mucopolysaccharides in the brain of patients with mucopolysaccharidoses by (1)H-magnetic resonance spectroscopy before and after bone marrow transplantation. Pediatr Res. 2001; 49(3):349-55. DOI: 10.1203/00006450-200103000-00008. View

Palmucci S, Attina G, Lanza M, Belfiore G, Cappello G, Foti P . Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 2013; 4(4):443-59. PMC: 3731470. DOI: 10.1007/s13244-013-0246-8. View

Poorthuis B, Wevers R, Kleijer W, Groener J, De Jong J, Van Weely S . The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999; 105(1-2):151-6. DOI: 10.1007/s004399900075. View

Nelson J, GREBBELL F . The value of computed tomography in patients with mucopolysaccharidosis. Neuroradiology. 1987; 29(6):544-9. DOI: 10.1007/BF00350438. View

Lachman R, Martin K, Castro S, Basto M, Adams A, Leao Teles E . Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2011; 3(2):109-18. DOI: 10.3233/PRM-2010-0115. View

Simonaro C . Cartilage and chondrocyte pathology in the mucopolysaccharidoses: The role of glycosaminoglycan-mediated inflammation. J Pediatr Rehabil Med. 2011; 3(2):85-8. DOI: 10.3233/PRM-2010-0120. View

10.

Zafeiriou D, Batzios S . Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol. 2012; 34(1):5-13. PMC: 7966323. DOI: 10.3174/ajnr.A2832. View

11.

White K, Harmatz P . Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med. 2011; 3(1):47-56. DOI: 10.3233/PRM-2010-0102. View

12.

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