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136 Coincidential hydrocephalus in twins with CMT1X
Discussion
Despite the finding of hydrocephalus in both affected twins, further family evaluation confirmed the hydrocephalous not to segregate with the GJB1 mutation. This highlights the importance of detailed phenotype segregation studies before diagnosing an atypical phenotype with genetic diseases. Alterna- tive genetic causes for the hydrocephalus are being sought.
1) Vivekanandam V, Hoskote C, Rossor AM, Reilly MM. CNS phenotype in X linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2018 Dec 5;90(9).
carolynnedoherty@doctors.org.uk|NIHR Bursary
93
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Pipis, M., Hosktote, C., Rossor, A., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research
