Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Surv Ophthalmol. 2011 Nov-Dec;56(6):544-9. doi: 10.1016/j.survophthal.2010.12.002. Epub 2011 Apr 1.
A 21-year-old Kuwaiti man had cerebral palsy, retinitis pigmentosa, hypertension, and renal failure. His younger brother and sister displayed similar findings. Ocular motility examination disclosed aperiodic alternating skew deviation in the patient and his younger brother. Magnetic resonance imaging showed hypoplasia of the superior cerebellar vermis with a "molar tooth" sign. Genetic testing confirmed an AHPI gene mutation on chromosome 6p23.3 in the patient and his siblings, confirming the diagnosis of Joubert syndrome. This case demonstrates the need to consider the diagnosis of Joubert syndrome in adults with retinitis pigmentosa or familial alternating skew deviation.
一名 21 岁的科威特男子患有脑瘫、色素性视网膜炎、高血压和肾衰竭。他的弟弟和妹妹也有类似的发现。眼球运动检查显示患者及其弟弟存在周期性交替斜偏。磁共振成像显示上小脑蚓部发育不良，伴有“磨牙”征。基因检测证实患者及其兄弟姐妹在 6p23.3 染色体上存在 AHPI 基因突变，确诊为杰特综合征。本病例表明，对于患有色素性视网膜炎或家族性周期性交替斜偏的成年人，需要考虑杰特综合征的诊断。
