Warburg Micro Syndrome- An Unusual Presentation with Brief Review of Literature

Laraib Malik

doi:10.19080/ajpn.2020.09.555816

Abstract

Warburg Micro Syndrome- An Unusual Presentation with Brief Review of Literature

Highlights

IntroductionWarburg micro syndrome is a rare autosomal recessive disorder characterized by microcephaly, micro cornea, congenital cataract, developmental delay, hypogonadism, structural brain anomalies, large and asymmetric ears, low anterior hairline, hypotonia, absent speech, and overlapping toe [1]
It is necessary to look for other syndromes too other than congenital rubella, which closely mimics Warburg syndrome, if a child presents with bilateral cataract only
Warburg micro syndrome is a rare autosomal recessive disorder characterized by microcephaly, micro cornea, congenital cataract, developmental delay, hypogonadism, structural brain anomalies, large and asymmetric ears, low anterior hairline, hypotonia, absent speech, and overlapping toe [1]

Summary

Introduction

Warburg micro syndrome is a rare autosomal recessive disorder characterized by microcephaly, micro cornea, congenital cataract, developmental delay, hypogonadism, structural brain anomalies, large and asymmetric ears, low anterior hairline, hypotonia, absent speech, and overlapping toe [1]. In Pakistani family Warburg micro syndrome was first described in 1993 by Warburg [1]. This syndrome is characterized by mutation of four genes: RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20. When seen by our tertiary care hospital, history and detailed examination led to the diagnosis of a genetic disorder, Warburg micro syndrome. Six months old child brought to our attention for developmental delay. Rubella serology of both mother and baby were negative. Child was wearing spectacles and responded poorly without it, hearing was normal, microphthalmia, microcornea, bulbous nose, broad nasal bridge, prominent ears, thin lips, long philtrum, prominent chin, micro penis (1.5cm), bilateral retractile testis, two pits in sacral region, and delayed milestones.

Discussion

Conclusion