Neuropediatrics 2009; 40(6): 287-290
DOI: 10.1055/s-0030-1249630
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Normal Cognitive Functions in Joubert Syndrome

A. Poretti1 , F. Dietrich Alber1 , F. Brancati2 , 3 , B. Dallapiccola2 , 4 , E. M. Valente2 , 5 , E. Boltshauser1
  • 1Department of Pediatric Neurology, University Children's Hospital of Zurich, Switzerland
  • 2CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy
  • 3Department of Biomedical Sciences, CeSI, Aging Research Centre, G. d’Annunzio University Foundation, Chieti, Italy
  • 4Department of Experimental Medicine, Sapienza University, Rome, Italy
  • 5Department of Medical and Surgical Paediatric Sciences, University of Messina, Messina, Italy
Further Information

Publication History

received 27.11.2009

accepted 16.02.2010

Publication Date:
05 May 2010 (online)

Abstract

Developmental delay and subsequent impaired cognitive functions are present in almost all patients with Joubert syndrome (JS). We report on a 20-year-old woman with mild clinical signs of JS (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (IQ=93), verbal (IQ=93), and performance intelligence quotient (IQ=94). Only minor difficulties in visual-spatial organization and in some executive functions could be detected. This pattern of deficits is partly reminiscent of the cerebellar cognitive affective syndrome. Her diagnosis was only reached following the diagnosis of JS in two brothers with severe cognitive impairment. Molecular investigations demonstrated a homozygous mutation in the INPP5E gene. This exceptional observation confirms that normal cognitive functions are possible in JS and corroborates the well known intrafamilial variability.

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Correspondence

Eugen Boltshauser

Department of Pediatric

Neurology

University Children's Hospital

of Zurich

Steinwiesstraße 75

8032 Zurich

Switzerland

Phone: +41/44/266 7330

Fax: +41/44/266 7163

Email: Eugen.Boltshauser@kispi.uzh.ch