PRE IMPLANATATION GENETIC DIAGNOSIS OF MICRO SYNDROME IN A MUSLIM FAMILY

Wargburg Microsyndrome in a muslim family

Abstract

Warburg micro syndrome is a rare autosomal recessive disorder characterized by microcephaly     micro cornea, congenital cataract, developmentally delayed, hypogonadism and structural brain abnormalities. It was first described by Warburg after that it was named as Warburg micro syndrome.

Our patient presented at 3 months due to micropenis. He has neither achieved neck holding nor eye contact. On examination he had microcephaly, micro-opthalmia, bilateral dense cataracts and underdeveloped scrotum. MRI brain done showed partial agenesis of corpus callosum. So we made a differential diagnosis of Warburg micro syndrome. He had another sibling with similar presentation with micropenis, microcephaly, micro-ophthalmia and developmentally delayed child.

 At that time, genetic test was done. Pathogenic variant in the RAB3GAP2 gene was detected. Preimplantation genetic diagnosis was planned for next pregnancy. Only healthy embryos are transferred to the uterus. Pre-implantation genetic diagnosis is a ray of hope for families with rare genetic disorders.