Related Experiment Video
Updated: Jun 19, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[Imerslund-Gräsbeck syndrome]
P Choquet1, V Levrat, C Pondarre
1Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme-Mère-Enfant, 59 Boulevard Pinel, 69500 Bron Lyon, France. paulinechoquet@club-internet.fr
Abstract:
Anemia is a very common symptom encountered in numerous clinical situations in pediatrics. Etiologies range from classic iron-deficiency anemia to the more particular etiologies. We report on a clinical history where usual symptoms such as asthenia, drowsiness and proteinuria provided a rare diagnosis: Imerslund-Gräsbeck syndrome. We discuss the exams to be done with aregenerative macrocytic anemia so as not to underestimate these diagnoses, which each require adapted treatments.
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