Fig. 1. Screening and follow-up proposed during childhood.

An initial tumour screening should be performed after the discovery of an SDHA, SDHB, SDHC or SDHD-pi mutation relying on blood pressure measurements, a symptoms or signs questionnaire, assessment of metanephrines in plasma or urine, and imaging work-up by MRI of head and neck, thorax, abdomen and pelvis. Even after an initial negative work-up, all asymptomatic mutation carriers should be clinically followed up every year, by biochemical assessments every 2 years and by MRI every 2–3 years.