Miglustat, a small iminosugar with its ability to cross the blood brain barrier has porved disease-modifying benefit on neurological manifestations in Niemann Pick type C1 (NPC1). We report the benefit of early use of this drug in infantile onset NPC1.

Case report: A female infant presented with neonatal cholestasis and hepatosplenomegaly and was diagnosed with NPC1. Her previous affected male sibling had early onset NPC1 with similar presentation. He was in a vegetative state by 4 years and died aged six.

She was started on Miglustat at 5 months of age after cholestasis resolved. At 30 months of age, her Niemann Pick disease related disability score was 4 with normal ambulation, manipulation, language and swallowing.

Development assessment at 3 years of age using Bailey scales showed a congitve age of 19 monts and gross motor age of 1 year. At 4 years of age she is able to run and climb onto furniture, She remains neurologically stable and continues to make developmental progress with no signs of regression.

Diescussion: Early treatment with Miglustat significantly altered the disease course in this patient compared with the sibling, highlighting the importance of early diangosis of neurological disease in NPC1.