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CASE REPORT
Year : 2016  |  Volume : 4  |  Issue : 1  |  Page : 52-57

Porencephaly: case report and review


1 Resident, Department of Medicine, Sumandeep Vidyapeeth, SBKS MI & RC, Piparia, Vadodara, Gujarat, India
2 Professor, Department of Medicine, Sumandeep Vidyapeeth, SBKS MI & RC, Piparia, Vadodara, Gujarat, India

Correspondence Address:
P Bhuta
Resident, Department of Medicine, Sumandeep Vidyapeeth, SBKS MI & RC, Piparia, Vadodara, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2347-6486.240046

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Porencephaly is an extremely rare disorder of the central nervous system defined as a ‘fluid-filled defect communicating with ventricles or separated from them by a thin layer of brain tissue and covered on the outside by arachnoid’ and is found to be associated with COL4A1 mutation. Its diagnosis depends on demonstrating a well-defined CSF-filled space-occupying lesion communicating with ventricles on CT scan or MRI of brain. There has been no report of porencephaly associated with myesthenia gravis till now. We present a case of porencephaly who presented with altered sensorium and myesthenia gravis to highlight the point that although rare at present, its incidence may increase in future. The best way to contain the increase in incidence of porencephaly is genetic counselling and prenatal testing in affected individuals and those at risk. This will also help in restricting increase in other disorders related to COL4A1 mutation.


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