Abstract

Acro-Renal Syndrome with Open Lip Schizencephaly ??? A Rare Case Report

Author(s): Mojahid Mondal1, Narayan Pandit2

A 7-day-old new-born was referred to Department of Radiodiagnosis of North
Bengal Medical College and Hospital to evaluate enlargement of head
circumference. On clinical examination of this new-born we found macrocephaly
and absent right thumb as well as deformed left thumb. No other clinical
abnormalities were seen in this new-born apart from this. Facial structures, spine,
upper and lower limbs, trunks were normal clinically. Transcranial ultrasound was
done using LOGIQ P9 ultrasound machine which revealed an open lip
schizencephaly involving right cerebral hemisphere with absence of corpus
callosum. Trans abdominal sonography revealed non visualisation of left kidney in
left renal fossa as well as in its usual ectopic position. Therefore, the new-born
underwent magnetic resonance imaging (MRI) of brain and whole abdomen which
confirmed ultrasound findings. MRI additionally revealed there was no ocular,
anorectal and genito-urinary malformations. Infantogram was done to evaluate
the skeleton of this new-born. Fetal echocardiography revealed no obvious cardiac
anomalies.