Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report

Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected T2-hyperintense cerebral white matter and are called “tigroid pattern” in the literature. The fornix is a tiny white matter fibers bundle playing crucial role in cognitive functioning, easily overlooked on magnetic resonance imaging and not described in inborn errors of metabolism. Case presentation We present a case of glutaric aciduria type 1 with a follow-up of over nine years. The course of the disease is presented in three magnetic resonance scans at the age of 8 and 21 months, and 10 years, with diffusion restriction in the fornix in scan 1 and 2 and with tigroid pattern in scan 3. Despite appropriate diet and supplementation, injury of white matter progressed achieving diffuse stage with tigroid pattern. Psychological tests revealed deficits in patient’s specific cognitive skills, most likely related to damage to the fornix. Conclusions To our knowledge, this is the first report of tigroid pattern of white matter involvement in glutaric aciduria type 1 and the first report of forniceal injury in this disease which seems to be correlated with patient’s low functioning in all kinds of memory skills, previously not reported in glutaric aciduria type 1.

White Matter Biomarkers- A Review

Biomarkers are indicators of a disease or the severity of a disease. For example, in the human body, antibodies can be termed as a biomarker. White matter is important to learn for understanding various topics such as the theory of mind, empathy, clinical disorders in terms of neuroscience. White matter can change depending upon traumatic experience. This research is seen as a scoping literature review. In seeking to identify the relevant literature from the past twenty years, we used common databases such as Pubmed, Google Scholars. Searches of the reference list from relevant review articles were also employed to identify further relevant studies. Search items included, 'white matter', 'biomarkers', 'white matter biomarkers', 'biomarkers used in neurology'. The obtained articles were later thoroughly read through and understood. A total of '45' articles have been selected and reviewed in this article. Biomarkers present in white matter help diagnose the various white matter related diseases which can help prevent further stages or increase of the disease. But accurate biomarkers for white matter disease are yet to be found. More research must be done in order to help prevent and treat white matter diseases. This study on white matter biomarkers still does not have an accurate answer and must be discovered in the future. There are many biomarkers that can serve for white matter, but none of them fulfils the desired features of a biomarker needed for diagnosing white matter diseases. Future studies are to be done for early prevention of diseases related to white matter and its complete use in humanity.