Pranavi’s GM1 glangliosodosis diagnosis

Pranavi Khatiwada, born 28 July 2022, was diagnosed with GM1 gangliosidosis at the age of 4 months. Initially admitted with GBs infection and COVID, her initial symptoms were temp 38.9 and rash in her groin area. She also got Mitral Valve regurgitation which was initially thought to be from her infection.

She started to develop the Mongolian marks like spots all over her body in her hospital stay and never got better. They also looks like bruising along with non blanching rash. With different gene and urine sample testing whilst she was admitted the treating team came to know it was GM1.

Now 8 months old, Pranavi lives with her parents and a sister in Australia.