Neurol Case Rep | Volume 6, Issue 1 | Case Report | Open Access
Ravi S1 , Hansashree P1*, Debjyoti D1 , Dinesh S2 , Karthik K2 , Rohan M1 , Bidisha B3 , Pooja M1 and Mathuranath PS1
1Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), India 2Department of Neuroimaging & Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), India 3Department of Pediatrics, Manipal Hospital, India
*Correspondance to: Hansashree PadmanabhaFulltext PDF
Background: In the era of genetics, the authors would like to highlight the role of Magnetic Resonance Spectroscopy (MRS) in developing countries where genetic analysis might not always be feasible. Case Report: We report a case of a 26-month-old girl, born of consanguineous parentage who had presented to us with late-infantile neuro-regression. Biochemical investigations showed elevated serum lactate. Neuroimaging showed symmetrical cystic leukoencephalopathy with transverse pontine fibers affection. Diffusion restriction was present in callosal genu and periventricular white matter. MRS of the periventricular lesions marked the distinctive succinate peak at 2.4 ppm which is characteristically seen in succinate dehydrogenase deficiency. Genetic testing was deferred due to financial constraints. In the absence of genetic analysis, MR Spectroscopy clinched the diagnosis of succinate dehydrogenase deficiency in our patient. Conclusion: SDH deficiency should be considered as a differential diagnosis in early onset psychomotor regression with leukoencephalopathy wherein the MRS shows a succinate peak.
MR spectroscopy; Neuroregression; Cystic Leukoencephalopathy; Succinate Peak; Elevated lactate; Neurometabolic disorders
Ravi S, Hansashree P, Debjyoti D, Dinesh S, Karthik K, Rohan M, et al. Brain Magnetic Resonance Spectroscopy (MRS) in Neurometabolic Disorders: An Invaluable Tool. Neurol Case Rep. 2023;6(1):1037..