• BMJ case reports · Jan 2010

    Case Reports

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

    • Osama S M Amin and Sa'ad Seud Shwani.
    • Department of Neurology, Sulaimaniya General Teaching Hospital, Sulaimaniya City, Iraq. dr.osama.amin@gmail.com
    • BMJ Case Rep. 2010 Jan 1;2010.

    AbstractJoubert'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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