Radiology 2020 06;295(3):736-740
From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.
HistoryA 13-year-old girl was born to consanguineous parents. She presented with mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy. Vertical gaze was preserved, and no abnormalities suggesting facial paralysis were noted. Read More