Publication: Miller Dieker Syndrome as a Cause of Refractory Seizures
Date
2014
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract
Miller-Dieker syndrome is a genetic deletion syndrome characterized by neuronal migration disorder lissencephaly where the exterior of the brain is abnormally smooth with fewer folds and grooves and characteristic facial dysmorphism. A one year old boy born presented to our emergency with severe respiratory distress and recurrent convulsions. A diagnosis of Miller Diecker syndrome was made consistent with typical clinical features and investigations. The child was managed symptomatically, however the seizures remained refractory and the child succumbed on day three of admission. Diagnosis of rare diseases like this is necessary not only for management but also for predicting recurrence in the family and genetic counselling.
Description
Sananda Pati
MBBS, MD, RMO Cum Clinical Tutor, Department of Paediatrics, Burdwan Medical College and Hospital
Sangita De
MBBS, MD, PGT, Department of Paediatrics, Burdwan Medical College and Hospital
Sankha Subhra Nag
MBBS, MD, RMO Cum Clinical Tutor, Department of Paediatrics, North Bengal Medical College and Hospital
Kaustav Nayek
Professor, MBBS, MD, Department of Paediatrics, Burdwan Medical College and Hospital.
Keywords
Miller Dieker Syndrome, lissencephaly, neuronal migration disorder