Article type :
Case Report
Author :
Deeptanshu Agarwal, A.Q. Jilani, Priyadarshi Srivastava, S. B. Gupta, Anju Agarwal, Ajay Kohli
Volume :
4
Issue :
1
Abstract :
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects 1 out of
4500 female in which there is underdeveloped or absence of female
genitourinary system, vagina or uterus. It is transmitted as an autosomal
dominant trait with an incomplete degree of penetrance and variable
expressivity. The phenotypic expression of this syndrome involve anomaly of
the reproductive system. The case “ MIss X†presented with episodes of
disorganised behaviour (self injurious). Miss X was provisionally diagnosed
as seizure disorder with mental retardation. Detailed evaluation marked the
abesnce of reproductive system. This possiblility of dual association of a
major physical/anatomical abnormality and psychological disorder in young
adolescent girl, is being presented here after taking valid consent.
Keyword :
MRKH syndrome, seizure, disorganised behaviour, Mental Retardation