DR. AAKANKSHA RAGHUVANSHI

Abstract

INTRODUCTION:

WARBURG MICRO SYNDROME IS A RARE AUTOSOMAL RECESSIVE DISEASE CHARACTERIZED BY MICROCEPHALY, CORTICAL DYSPLASIA, INTELLECTUAL DISABILITY, MICROCORNEA, CONGENITAL CATARACT, SPASTIC DIPLEGIA AND HYPOGONADISM.

CASE HISTORY:

A 18 YEAR OLD MALE PRESENTED WITH COMPLAINTS OF DIMINISION OF VISION BOTH EYES SINCE CHILDHOOD. HE HAD HISTORY OF DEVELOPMENTAL DELAY, SEIZURES IN CHILDHOOD. BCVA WAS 5MFC IN RIGHT EYE AND CFCF IN LEFT EYE. ON EXAMINATION. HE HAD CONGENITAL TOTAL CATARACT BOTH EYES WITH NYSTAGMUS. NCCT HEAD AND ORBIT SHOWS BRACHYCEPHALY AND PERIVENTRICULAR WHITE MATTER HYPODENSITY. HE ALSO HAD RIGHT FOOT CONTRACTURE, HYPOGONADISM AND DELAYED PUBERTY. AFTER CATARACT SURGERY,FUNDUS ASSESSMENT SHOWED OPTIC DISC PALLOR WITH FOVEAL THINNING BOTH EYES.

CONCLUSION:

WE ARE REPORTING THIS CASE AS IT IS A RARE DISEASE AND ALSO GENETIC COUNSELLING SHOULD BE DONE TO AVOID CONSANGUINEOUS MARRIGES TO PREVENT THE OCCURRENCE OF THIS DISEASE.