A Case Report on DOORS Syndrome
1
- 1Department of Pharmacy Practice, Believers Church Medical College Hospital, Thiruvalla, Kerala, INDIA.
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Sherin Alexander
Department of Pharmacy Practice, Believers Church Medical College Hospital, Thiruvalla, Kerala, INDIA.
Volume 13, Issue 3 · pp. 277-279 · 2020 · DOI: 10.5530/ijopp.13.3.46
ABSTRACT
DOORS syndrome is a genetic neurometabolic disorder. It is inherited as an autosomal recessive trait. It affects male and females in equal numbers. The main causes include TBC1D 24 mutations and genetic factors. Here we discuss a case of 11 year old boy diagnosed as DOORS syndrome with genetic cause. He was globally delayed in development and was frequently hospitalized due to recurrent seizure.
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Alexander, S. (2020). A Case Report on DOORS Syndrome. Indian Journal of Pharmacy Practice, 13(3), 277-279. https://doi.org/10.5530/ijopp.13.3.46
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This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. CC BY 4.0