Description
Foramen magnum stenosis (FMS) is a serious and potentially life-threatening complication of achondroplasia. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord and can result in sleep apnoea and sudden death. There is a lack of clarity in the literature on the timing of regular monitoring of FMS, assessments that should be carried out and when regular screening can stop.
Members of the European Achondroplasia Forum (EAF) were invited to an open workshop to submit suggestions for guiding principles for the detection and management of FMS. After anonymous voting, six guiding principles were developed. The principles guide routine clinical monitoring of infants and young children, timing of routine MRI screening, referral of suspected FMS to a neurosurgeon, the assessments used to inform the decision to decompress the foramen magnum, joint decision making to proceed with decompression, and management of older children in whom previously undetected FMS is identified.
Through the development of these guiding principles for the detection and management of FMS, the EAF aim to enable optimal outcomes for this potentially life-threatening complication.
References:
Irving M, AlSayed M, Arundel P, Baujat G, Ben-Omran T, Boero S, Cormier-Daire V, Fredwall S, Guillen-Navarro E, Hoyer-Kuhn H, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB Orphanet J Rare Dis 2023;18:219