Brain magnetic resonance imaging of Joubert syndrome: case presentation in a child

Fangmei Zhu, Yujun Wang, Guangzhao Yang, Shuitang Deng


A 16-year-old boy was admitted to our hospital due to sudden pale face and chest pain for half-an-hour. He could not express properly because of hypophrenia. Other examinations revealed congenital cataract in the right eye, as well as nystagmus and generalized hypotonia. He had signs of ataxia, and, though without deformity in any limb, was unable to complete the straight-line walking test. Five years ago, the boy was abandoned to a welfare home. The caretaker of the welfare home complained that the boy had several times of episodic hyperpnea, every 1–2 h, each lasting for about 10–40 s, during the night sleep. Ultrasonography of liver, cholecyst, pancreas, spleen, kidney and heart showed no abnormal findings. Electrocardiogram showed sinus arrhythmia.