Could Heritable Disorders of Connective Tissue (HCTDs) Contribute to The Development of Posterior Reversible Encephalopathic Syndrome (PRES)?-A Case Study and Discussion

Abstract

Dr. Malini Alexander (Dip-MSc Rheumatology) and Dr. Augustus Kigotho (FACEM)

A female Caucasian patient in her early twenties presented to the authors’ rural emergency department with right upper quardrant pain. On examination incidental findings Suggested features of a Heritable Disorder of Connective Tissue (HCTD) and a history of the unusual condition of recurrent Posterior Reversible Encephalopathic Syndrome (PRES) prompted the authors to consider whether these conditions could possibly be related. A number of mechanisms in disorders of connective tissue weakness might contribute to loss of autoregulation and brain hyperperfusion, or hypoperfusion, endothelial dysregulation and brain oedema from dysfunction of the blood brain barrier resulting in PRES, however there is a paucity of research on the relationship between HCTDs, PRES and BBB dysfunction. Further research to establish whether there is a connection between POTS, autonomic dysfunction, EDS/HSD and other HCTDs is required as the presence of these conditions might be underdiagnosed in patients presenting with PRES.

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