Implication for health policy/practice/research/medical education:
Joubert syndrome is a rare genetic disorder. It is characterized by nephrologic, neurologic and ophthalmologic disorders. Absence or underdevelopment of the cerebellar vermis, malformed brain stem (molar tooth sign), ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia and seizure are the neurologic features of this syndrome. It is one of the causes of retinitis pigmentosa syndrome. The most common nephrologic presentations of Joubert syndrome are cystic dysplasia and nephronophthisis.
Please cite this paper as: Seylanian-Toosi F, Boloursaz S, Abbasi B, Hekmat R, Mortazavi-Ardestani R, Mohajerzadeh MN. Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review. J Renal Inj Prev. 2017;6(2):76-79. DOI: 10.15171/jrip.2017.14