Miller-Dieker Syndrome with Hydronephrosis

Keya Lahiri ； Fehmida Najmuddin ； Rajesh Rai ； Priya Patil Cholera

《International Journal of Case Reports and Images (IJCRI)》 6卷10期 (2015/10) Pp. 610-613

https://doi.org/10.5348/ijcri-201598-CR-10559

並列摘要

Introduction: Miller-Dieker syndrome (MDS) is a rare genetic disorder which is characterized by lissencephaly, facial dysmorphism and congenital malformations involving-multiple organs. Case Report: We, hereby describe a ninemonth-old infant who presented to our tertiary care hospital with developmental delay, infantile spasm and bronchopneumonia. On examination, there was prominent forehead, bi-temporal hallowing, bilateral ptosis, upturned nares and low set ears. Other dysmorphic features were micrognathia, thickened upper lip, high arched palate, umbilical hernia and polydactyly was noted bilaterally in both the upper and lower limbs. The investigations, revealed Lissencephaly type 1 and left-sided hydronephrosis. The typical dysmorphic facies, neurological involvement and lissencephaly type 1 led to the diagnosis of Miller-Dieker syndrome. Conclusion: Mille-Dieker syndrome involving the genitourinary system anomaly in the form of hydronephrosis with pelvi-ureteric junction obstruction, has not been yet described in literature.

並列關鍵字

Miller-dieker syndrome ； Lissencephaly ； Hydronephrosis