Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Sarah WenteSimone SchröderJohannes BuckardHans-Martin BüttelFlorian von DeimlingWilfried DienerMartin HäusslerSusanne HübschleSilvia KinderGerhard KurlemannChristoph KretzschmarMichael LingenWiebke MaroskeDirk MundtIciar Sánchez-AlbisuaJürgen SeegerSandra P ToelleEugen BoltshauserKnut BrockmannPublished in: Orphanet journal of rare diseases (2016)
Systematical renewed analysis of neuroimaging data resulted in a diagnostic reappraisal in the majority of patients with early-onset OMA in the cohort reported here. This finding poses a further challenge to the notion of COMA constituting a separate entity and underlines the need for an expert assessment of neuroimaging in children with COMA, especially if they show cognitive impairment.