A girl with abnormal head and eye movements: Joubert syndrome (2005:3b).
We describe a mentally retarded patient with developmental delay, abnormal head and eye movements with suspected blindness and episodes of abnormal breathing. Subsequent CT and MRI were performed to reach to the final diagnosis. The clinical history and the imaging findings were classical for Joubert syndrome.
Verma
S K
SK
Department of Radiology and Imaging, K.G. Hospital and P.G Medical Institute, Coimbatore, India.
Shetty
B S
BS
Kanth
L
L
Kumar
T
T
D000015:Abnormalities, Multiple; D001766:Blindness; D002524:Cerebellar Ataxia / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008279:Magnetic Resonance Imaging; D015835:Ocular Motility Disorders / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed