INTRODUCTION: VICI syndrome is a very rare and severe autosomal recessive multisystem disorder characterized by albinism, corpus callosum agenesis, immunodeficiency, cataract, seizures and recurrent infections. It was first described by Carlo Dionisi-Vici et al in 1988. To date about 50 cases have been reported.

We report a case of VICI syndrome presented in neonatal period, probably first case report from India.

CASE REPORT: A term female baby 3^rd born to parents of 3^rd degree consanguineous marriage, presented to us on day 25 of life with history of recurrent episodes of fever, failure to thrive and poor feeding. Baby had 3 episodes of febrile illness between 3rd to 25^th days of life requiring admissions. On admission baby was febrile and lethargic. Baby was started on broad spectrum antibiotics and tube feeding.

On examination baby was found to have hypopigmented skin and hairs including eye brows and eye lashes, micrognathia, high arched palate, arching of neck, hypotonia, stridor during feeding . Fundus examination- hypopigmented retina.

MRI brain revealed complete corpus callosum agenesis, EEG- abnormal, WBC- 17200, (neutrophils78%), CRP-50mg/dl, Eubacterial genome- staphylococcus aureus, CSF- normal, Blood and CSF culture- sterile.

DISCUSSION: In view of above clinical spectrum and investigations differential diagnosis considered were- VICI syndrome, Griscelli syndrome and Chediac-Higashi syndrome. To confirm the diagnosis clinical exome sequencing was sent which revealed “EPG5 gene mutation” which is the confirmatory diagnosis of VICI Syndrome.

Baby was discharged on tube feeding and in follow up thriving well. Management is only supportive.