Presentation
Acute onset of headache. Wheelchair bound.
Patient Data
The posterior cranial fossa is obscured by susceptibility artefact from previous posterior craniocervical fusion. Abnormal flattening of the skull base (platybasia). Note the massively enlarged subcutaneous venous collaterals overlying the posterior fossa.
Both the lateral ventricles and third ventricle are dilated. The fourth ventricle is not dilated.
There are bilateral arachnoid cysts of the middle cranial fossa with mass effect on the inferior temporal lobe and significant widening of the Sylvian fissure. There is high signal on T2-weighted FLAIR sequence at the bilateral frontal periventricular white matter region. There is no extra-axial fluid collection and no restricted diffusion.
Conclusion:
Enlarged lateral ventricles and third ventricle as well as the arachnoid cysts of the bilateral middle cranial fossa. Bilateral frontal periventricular white matter region demonstrates a high signal on T2-weighted FLAIR sequence.
Case Discussion
This patient had a known medical background of mucopolysaccharidosis type VI (MPS VI) with previous craniocervical fusion.
MPS is an inherited metabolic disease characterized 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) categorized 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.
Unable to process the form. Check for errors and try again.