Abstract #0734

Quantitative Spectroscopic Imaging in Metachromatic Leukodystrophy: value in prognosis and treatment monitoring.

Diane van Rappard¹, Antoine Klauser², Marjan Steenweg¹, Marjo van der Knaap¹, Nicole Wolf¹, and Petra Pouwels³

¹Child Neurology, VU University Medical Center, Amsterdam, Netherlands, ²Centre d'Imagerie BioMédicale, Geneva University, Geneva, Switzerland, ³Physics & Medical Technology, VU University Medical Center, Amsterdam, Netherlands

Currently, hematopoietic stem cell transplantation (HSCT) is the only treatment option for patients with metachromatic leukodystrophy (MLD). This study in MLD patients and controls investigated the possible additional prognostic value of quantitative MRSI. In WM (consisting of lesions and NAWM), ratios of Cho/NAA and Ins/NAA were significantly higher in patients who were considered non-eligible for HSCT than in eligible patients. Follow-up of successfully treated patients showed partial normalization of concentrations and ratios. This study suggests that quantitative MRS can support the decision whom to treat, especially when neurological and cognitive examinations are ambiguous.

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