A Case Report on DOORS Syndrome

Published on:September 2020
Indian Journal of Pharmacy Practice, 2020; 13(3):277-279
Case Report | doi:10.5530/ijopp.13.3.46

A Case Report on DOORS Syndrome

Authors and affiliation (s):

Sherin Alexander

Department of Pharmacy Practice, Believers Church Medical College Hospital, Thiruvalla, Kerala, INDIA.


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.

Key words: DOORS syndrome, Genetic disorder, Dysmorphic features, TBC1D24 mutations, Neurometabolic disorder.


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Indian Journal of Pharmacy Practice (IJOPP) [ISSN-0974-8326] is the official journal of Association of Pharmaceutical Teachers of India (APTI) and is being published since 2008.


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