Magnetic resonance spectroscopy appearances of Sanfilippo syndrome

Sanfilippo syndrome is an autosomal recessive lysosomal storage disorder that leads to a deficiency of enzymes involved in the degradation of mucopolysaccharides. This results in an excessive accumulation of mucopolysaccharides in cells of the body. This accumulate can cause progressive damage to surrounding tissue. Brain imaging classically demonstrates two major patterns: (a) white matter high T2 signal abnormality and (b) prominent cystic lesions and perivascular spaces. The cerebellum, medulla and pons tend to be spared. The role of proton MR spectroscopy (H-MRS) is less clear cut; but it may complement MR imaging in diagnosis and therapeutic monitoring of the disease. We report the H-MRS findings of a child with Sanfilippo syndrome, which confirms the characteristic pattern described in the limited number of previously reported cases.