Neuro-ocular, linked to DAGLA, syndrome
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Very rare. Mutation of the DGLA gene (11q12.2) coding for diacylglycerol lipase-alpha, which catalyzes the hydrolysis of diacylglycerol to 2-arachidonoyl-glycerol, the most abundant endocannabinoid in tissues. Association of developmental delay with balance difficulties, abnormal eye movements and nodding of the head.
Anesthetic implications:
unknown
References :
- Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L et al.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Brain 2022 ; 145 : 3383–90, https://doi.org/10.1093/brain/awac223
Updated: December 2022