Undiagnosed Joubert Syndrome Presenting with Ischemic Stroke Rare Case in Dhamar Yemen

Joubert syndrome (JS) is a rare congenital autosomal recessive inherited disorder. The usual presentation of patients with JS is hypotonia, developmental delay, abnormal eye movement, ataxia, hyperapnea, or ischemic stroke. However, there have been very few cases of JS presenting with ischemic stroke. We describe a case of undiagnosed JS in a 7-year-old boy who presented with new onset left side weakness and irritability. The patient had apparent signs of motor and developmental delay. On physical examination, he had noticeable dysmorphic features including a broad forehead, elongated face, strabismus, trapezoid shaped mouth with protruded tongue, and low set ears. Brain computed tomography (CT) imaging reveals diagnostic features of Joubert syndrome with hypotension of cerebellar vermis ‘’batwing” appearance of the fourth ventricle and “molar-tooth” appearance of midbrain on cross section. Literature shows only a few cases with Joubert syndrome and ischemic cerebrovascular disease concluding that patients with Joubert syndrome have a risk of developing ischemic cerebrovascular disease at any age.