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Letters to the editor
Coexistence of Gaucher disease type 1 and Joubert syndrome
  1. EUGEN J BOLTSHAUSER
  1. Department of Paediatrics, Children’s University Hospital, CH-8032 Zurich, Switzerland
  2. Division of Pediatric Neurology, University of Florida, College of Medicine, Gainesville, FL 32610, USA
    1. BERNARD L MARIA
    1. Department of Paediatrics, Children’s University Hospital, CH-8032 Zurich, Switzerland
    2. Division of Pediatric Neurology, University of Florida, College of Medicine, Gainesville, FL 32610, USA

      https://doi.org/10.1136/jmg.36.11.870

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        Editor—Van Royen-Kerkhof et al 1 reported two boys with Gaucher disease type 1 and Joubert syndrome (JS). Their case 1 had, in addition to mental retardation, choreoretinal colobomas, cerebellar vermis agenesis, and abnormal breathing, agenesis of the corpus callosum, hydrocephalus (no further details given), and generalised seizures. Their case 2 had prenatal hydrocephalus and “fulfilled the diagnostic criteria for JS”. Information about brain anatomy and retinal findings in case 2 is lacking.

        We question the diagnosis of JS in these two patients. …

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