This patient had a known medical background of mucopolysaccharidosis type VI (MPS VI) with previous craniocervical fusion.
MPS is an inherited metabolic disease characterised by a deficiency in lysosomal enzyme responsible for the breakdown of mucopolysaccharides 1,2. As a result, the accumulation of mucopolysaccharides inside lysosomes and the extra-cellular space leads to chronic cellular degeneration across multiple body systems. There are seven types of MPS (MPS I-VII) categorised by the specific deficient enzyme and the severity of their clinical presentation 1.
MRI is the preferred imaging modality in evaluating for abnormalities of the brain and spinal cord. Typical imaging features include an enlarged perivascular space, hydrocephalus, cerebral atrophy, periventricular white matter lesions and cervical canal stenosis with or without the presence of spinal cord compression 1,2.