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

## TL;DR

This paper reports a case of Sly syndrome in a 19-year-old male with seizures and discusses its neurological and imaging features.

## Contribution

The paper highlights atypical neuroimaging findings in Sly syndrome, aiding in its characterization and early diagnosis.

## Key findings

- The patient exhibited multisystem features typical of Sly syndrome.
- Atypical neuroimaging findings were observed alongside typical neurological features.
- The case emphasizes the importance of neuroimaging in diagnosing Sly syndrome.

## 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.