Magnetic resonance spectroscopy as a diagnostic tool in cerebral creatine deficiency syndrome 3

Cerebral creatine deficiency syndrome-3 is a rare autosomal recessive disorder characterized by disturbance of expressive and cognitive speech, developmental delay, intellectual deficiency and myopathy. In some rare cases, it is associated with behavioral issues and seizures which usually have an early onset. A 44-month-old girl presented with complaints of speech delay, psychomotor regression, and features of proximal myopathy. Contrast-enhanced magnetic resonance imaging brain was essentially normal. Multivoxel magnetic resonance spectroscopy (MRS) demonstrated absence of definable creatine peak at 3.0 ppm. Follow-up MRS, post-creatine monohydrate supplementation revealed appearance of creatine metabolite peak at 3.0 ppm suggesting treatment response. In this case report, we are highlighting the potential of MRS as a reliable method of detecting cerebral creatine levels in the cerebral creatine deficiency syndrome as well as documentation of treatment response with oral creatine.