Abstract
Mucopolysaccharidoses (MPS) represents a heterogeneous group of inherited lysosomal storage disorders characterised by defective degradation of long-chain complex carbohydrates called glycosoaminoglycans (GAGs). To date, 11 distinct types of MPS have been described, each as a result of deficient enzymatic activity of specific lysosomal hydrolase. The most common types are Hurler and Hunter syndromes. We report a case of a child presenting with macrocephaly, clinically suspected to be due to hydrocephalus. An MRI (3 Tesla) brain study demonstrated the cribriform pattern in the brain caused by dilated perivascular spaces, which is a diagnostic clue for the presence of MPS.
Highlights
A 2-year-old boy presented with macrocephaly, initially suspected to be due to hydrocephalus
The earliest and most common abnormality found in patients with MPS is cystic lesions that correspond to enlargement of the Virchow-Robin perivascular spaces (PVS), which are pia-lined spaces that accompany penetrating arteries and arterioles into the brain parenchyma.[2]
The PVS dilatation reflects impairment of CSF re-absorption owing to accumulation of GAGs in the vacuolated gargoyle cells[3] of the leptomeninges
Summary
We report a case of a child presenting with macrocephaly, clinically suspected to be due to hydrocephalus. An MRI (3 Tesla) brain study demonstrated the cribriform pattern in the brain caused by dilated perivascular spaces, which is a diagnostic clue for the presence of MPS. A 3T MRI of the brain, revealed macrocephaly, thickened diploeic spaces (most prominent in the occipital region) and the presence of a J-shaped sella (Fig. 1). A cribriform pattern (otherwise known as ‘honeycombing’ or ‘sieve-like’ appearance) (Figs 2 and 3) was present, caused by dilated perivascular spaces, diffusely involving the bilateral subcortical white matter (WM), centrum semiovale, periventricular deep white matter and corpus callosum. Skeletal survey of the child revealed features suggestive of mucopolysaccharidosis 1H (Hurler syndrome), which was further confirmed by quantitative and qualitative urinary glycosoaminoglycan (GAG) analysis[1] revealing elevated levels of dermatan and heparan sulphate
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
