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¹H Magnetic Resonance Spectroscopy in Monocarboxylate Transporter 8 Gene Deficiency

Departments of Radiology (P.E.S., L.A.R., L.C.M.) and Pediatric Neurology (R.J.L.), University Medical Center Groningen and University of Groningen, 9713 GZ Groningen, The Netherlands

Address all correspondence and requests for reprints to: Paul E. Sijens, Department of Radiology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands. E-mail: p.e.sijens{at}rad.umcg.nl.

Context: In monocarboxylate transporter 8 (MCT8) gene deficiency, a syndrome combining thyroid and neurological abnormalities, the central nervous system has not yet been characterized by magnetic resonance (MR) spectroscopy.

Objective: We studied whether the degree of dysmyelinization in MCT8 gene deficiency according to MR imaging (MRI) is coupled with abnormalities in brain metabolism.

Design: MRI and MR spectroscopy of the brain were performed twice in two MCT8 gene deficiency patients, for the first time at age 8–10 months and for the second time at age 17–28 months. The results were compared with those obtained in controls of a similar age.

Results: Compared with controls, young children with MCT8 show choline and myoinositol level increases and N-acetyl aspartate decreases in supraventricular gray and white matter, phenomena associated with the degree of dysmyelinization according to MRI.

Conclusion: MCT8 gene deficiency results in deviant myelinization and general atrophy, which is substantiated by the MR spectroscopy findings of increased choline and myoinositol levels and decreased N-acetyl aspartate. The observations suggest that different mutations in the MCT8 gene lead to differences in the severity of the clinical spectrum, dysmyelinization, and MR spectroscopy-detectable changes in brain metabolism.