This 8-month-old baby boy with a doll-like facies presented with hepatomegaly, fasting hypoglycaemia and hyperuricaemia. | Medibuddy
Login Sign up
Close
Undergraduate Year 1 Undergraduate Year 2 Exams MLA ST1 / CT / ACCS Interviews ST3 Interviews ST4 Interviews Crash Courses Professional Development
5th February 2024

This 8-month-old baby boy with a doll-like facies presented with hepatomegaly, fasting hypoglycaemia and hyperuricaemia.

This 8-month-old baby boy with a doll-like facies presented with hepatomegaly, fasting hypoglycaemia and hyperuricaemia. A liver biopsy revealed hepatocytes filled with dense glycogen pools and lipid droplets. Cornstarch dietary therapy improved his hypoglycaemia, other electrolyte abnormalities, as well as regression of hepatomegaly.

Which of the following is the most likely diagnosis?

Complete Guide to Clinical Genetics ST3 Application and Recruitment (2027)

Written by Medibuddy. Last updated: October 2026. Clinical Genetics is

Clinical Genetics ST3

Complete Guide to Clinical Radiology ST3 Application and Recruitment (2027)

Recruitment paused: NHS England is not running Clinical Radiology ST3+ recru

Clinical Radiology ST3

Complete Guide to Paediatric Surgery ST3 Application and Recruitment in United Kingdom (2026)

Written by Medibuddy. Last updated: October 2026. If you’re planning

Paediatric Surgery ST3
Mobile app screenshots

Take your subscriptions with you

Our mobile app allows you to access your interview and exam question banks wherever you are.