Unusual Imaging Findings in Brain and Spinal Cord in Two Siblings With Maple Syrup Urine Disease

Abstract

Maple syrup urine disease (MSUD) is a rare metabolic disease affecting the neural tissue. While the brain abnormalities present on MRI are well known, spinal imaging features have not been studied. We herewith report an unusual finding of enlarged Virchow Robin spaces in brain and novel spinal cord changes in two biochemically diagnosed cases of MSUD. To the best of our knowledge, spinal MRI findings in cases of MSUD have not been previously reported. Knowledge of spinal MRI findings may be useful in diagnosis of this rare disorder.

Evaluation of Neonatal Acute Metabolic Crisis in Maple Syrup Urine Disease with MR Diffusion and MR Spectroscopy: Case Series and Review of the Literature

“…Spinal cord signal abnormalities are not mentioned in most of the MSUD cases probably because spinal cord imaging is not a part of routine MR protocol in patients with inborn errors of metabolism. 18 The intermittent form presents with decompensation later in infancy or in early childhood. Acute clinical course and areas affected are similar to the classical form.…”

“…Spinal cord signal abnormalities are not mentioned in most of the MSUD cases probably because spinal cord imaging is not a part of routine MR protocol in patients with inborn errors of metabolism. 18…”