Case ReportIndian Journal of Pharmacy PracticeVol. 13 | Issue 3 | 2020 | pp. 277–279Open access
A Case Report on DOORS Syndrome
- 1*
- 1 Department of Pharmacy Practice, Believers Church Medical College Hospital, Thiruvalla, Kerala, INDIA.
Published in Indian Journal of Pharmacy Practice
Correspondence: Sherin Alexander
Department of Pharmacy Practice, Believers Church Medical College Hospital, Thiruvalla, Kerala, INDIA.
Email: sherinelsa94@gmail.com
Copyright: © 2020 Manuscript Technomedia. This is an open access article.
- Published:
- Aug 18, 2020
How to cite
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
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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Article metadata
| Title | A Case Report on DOORS Syndrome |
|---|---|
| Authors | Sherin Alexander |
| Affiliations | Department of Pharmacy Practice, Believers Church Medical College Hospital, Thiruvalla, Kerala, INDIA. |
| Corresponding author | sherinelsa94@gmail.com |
| Journal | Indian Journal of Pharmacy Practice |
| Volume / Issue | Vol. 13, Issue 3 (2020) |
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