Miller Dieker Syndrome as a Cause of Refractory Seizures

  • 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

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.

Key words: Miller Dieker syndrome; Lissencephaly; Refractory Seizures

DOI: http://dx.doi.org/10.3126/jnps.v34i2.9408

J Nepal Paediatr Soc 2014;34(2):154-156

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Author Biographies

Sananda Pati, MBBS, MD, RMO Cum Clinical Tutor, Department of Paediatrics, Burdwan Medical College and Hospital
JUNIOR RESIDENT,DEPARTMENT OF PAEDIATRICS, BURDWAN MEDICAL COLLEGE AND HOSPITAL, BURDWAN
Sangita De, MBBS, MD, PGT, Department of Paediatrics, Burdwan Medical College and Hospital
JUNIOR RESIDENT,DEPARTMENT OF PAEDIATRICS, BURDWAN MEDICAL COLLEGE AND HOSPITAL, BURDWAN
Sankha Subhra Nag, MBBS, MD, RMO Cum Clinical Tutor, Department of Paediatrics, North Bengal Medical College and Hospital
JUNIOR RESIDENT,DEPARTMENT OF PAEDIATRICS, BURDWAN MEDICAL COLLEGE AND HOSPITAL, BURDWAN
Kaustav Nayek, Professor, MBBS, MD, Department of Paediatrics, Burdwan Medical College and Hospital.
ASSOCIATE PROFESSOR,DEPARTMENT OF PAEDIATRICS, BURDWAN MEDICAL COLLEGE AND HOSPITAL, BURDWAN
Published
2014-10-30
How to Cite
Pati, S., De, S., Nag, S., & Nayek, K. (2014). Miller Dieker Syndrome as a Cause of Refractory Seizures. Journal of Nepal Paediatric Society, 34(2), 154-156. https://doi.org/10.3126/jnps.v34i2.9408
Section
Brief Reports/Case Reports/Case Series