Miller–Dieker syndrome with hydronephrosis

Abstract

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: Miller– Dieker syndrome involving the genitourinary