Ataxia, hyperpnoea and mental retardation: was it the molar tooth?
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.
Department of Neurology, Sulaimaniya General Teaching Hospital, Sulaimaniya City, Iraq. dr.osama.amin@gmail.com
Osama S M
OS
Amin
Sa'ad Seud
SS
Shwani
D000015:Abnormalities, Multiple; D001259:Ataxia; D002526:Cerebellar Diseases / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis*; D006801:Humans; D006985:Hyperventilation; D008607:Intellectual Disability; D007493:Iraq; D052177:Kidney Diseases, Cystic / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D012160:Retina / Q000002:abnormalities; D014057:Tomography, X-Ray Computed