Neuropsychiatric Symptoms of Urbach-Wiethe Disease

Abstract

Urbach–Wiethe (or lipoid proteinosis) disease (UWD) is a rare autosomal recessive disorder characterized by dermatological, psychiatric, and neurological symptoms. Presentation occurs during childhood, but can be observed from birth. While benign, the disease is progressive and chronic with no known cure. Treatment modalities are palliative for symptoms. The extant literature consists mainly of anecdotal reports and case studies that are limited by small sample sizes and paucity of controlled studies. Incidence and prevalence rates are unknown. There are less than 500 documented cases reported worldwide, and of those, less than 50 cases demonstrate neurological and neuropsychiatric conditions. Worldwide occurrence of the disease is documented, with the largest cohort living in a remote area of South Africa. The affected individuals are mainly Caucasian, born to consanguineous parents, and from Dutch or German heritage. Patients affected have been reported in China, Pakistan and Iran. Current and earlier studies focus primarily on the most visible signs of disease, dystonia and dermatological symptoms, while other studies have reported calcification in the amygdala, hippocampus, parahippocampal gyrus, and the striatum. While central nervous system involvement can lead to a wide range of clinical manifestations such as epilepsy and neuropsychiatric symptoms, there is not a consensus of reported cases with amygdala calcifications accompanied by neurological symptoms. Quantitative research is warranted to further identify the role and relationship between amygdala calcification and neurologic and neuropsychiatric symptoms, while qualitative research will afford insights into the lived experience of individuals and families living with UWD.