JIMD Podcasts
Avsnitt

Metabolic Mysteries: Ataxia, tremor and a normal vitamin B12

Dela

A 7-year-old boy presents following a suspected seizure, with a history of progressive ataxia and tremor. An MRI offers an important clue but a seemingly reassuring blood result complicates the picture.

In this Metabolic Mystery, Dr Steven Lang follows the clues to uncover a treatable metabolic diagnosis.

Can you solve the case before he does?

Read the paper: https://doi.org/10.1542/pir.2025-007029

Podden och tillhörande omslagsbild på den här sidan tillhör Journal of Inherited Metabolic Disease. Innehållet i podden är skapat av Journal of Inherited Metabolic Disease och inte av, eller tillsammans med, Poddtoppen.