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Advances in genetics has revolutionised the way we understand, diagnose and manage neurological disorders. Notwithstanding the fact that genetic confirmation has already become standard of care in routine clinical practice, radiological and clinical phenotyping has not diminished in value; in fact it has found an enhanced role in guiding and interpreting genetic test results. Inherited neurometabolic disorders are a prominent group of disorders which are seen commonly in clinical practice and many are potentially treatable. The concept of Radiogenomics is the bridge from phenotype to genotype and the strength of association varies widely across different inherited metabolic diseases. Understanding the strengths and limitations of these correlations forms the basis of success of multidisciplinary approach to diagnose these disorders. In this article authors give a brief overview of the genetic basis of a disease, available genetic tests and the prominent role of radiology in contemplating a diagnostic suspicion and guiding further confirmatory tests.

Imaging plays an important role in diagnosis, management, prognostication and follow up of pediatric demyelinating and inflammatory diseases of brain and forms an integral part of the diagnostic criteria. This article reviews the spectrum of aquaporinopathies with an in-depth discussion on present criteria and differentiation from other demyelinating diseases with clinical vignettes for illustration; the latter part of article deals with the spectrum of CNS vasculitis.