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BMJ Case Rep. 2010; 2010: bcr10.2009.2331.
Published online 2010 April 29. doi:  10.1136/bcr.10.2009.2331
PMCID: PMC3047379
Rare disease

Ataxia, hyperpnoea and mental retardation: was it the molar tooth?

Abstract

Joubert’s syndrome is a rare autosomal recessive disease, which is under-diagnosed, associated with other brain and body malformations, and carries a poor prognosis. We describe a 6-year-old boy who presented with non-progressive instability of stance and gait, mental retardation and a new onset of generalised seizures with the typical brain imaging findings of Joubert’s syndrome. We believe this is the first diagnosed case of Joubert’s syndrome in Iraq.


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