abstract how to cite this article: akhondian j, ashrafzadeh f, beiraghi toosi m, moazen n, mohammadpoor t, karimi r. joubert syndrome in three children in a family: a case series. iran j child neurol. 2013 winter: 7(1); 39-42.   joubert  syndrome  (js)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abn...

A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypoth...

PURPOSE We performed a retrospective study in which we investigated malformations other than brainstem and vermian dysgenesis in Joubert syndrome-related disorders (JSRD). We investigated the frequency and type of structural abnormalities that coexist with the molar tooth sign (MTS) in JSRD. MATERIALS AND METHODS We searched our archive for the years 2002-2008 in order to find patients with t...

A 14-month-old Hispanic female with a history of double-outlet right ventricle and developmental delay in the setting of recombinant chromosome 8 syndrome was referred for neurologic imaging. Brain MR revealed multiple abnormalities primarily affecting midline structures, including commissural dysgenesis, vermian and brainstem hypoplasia/dysplasia, an interhypothalamic adhesion, and an epidermo...

Dear Editor, A 32-year-old man presented with a history of intermittent headaches. On examination, visual acuity was normal and no neurological deficit was seen. Magnetic resonance imaging (MRI) brain scan was performed for further evaluation and revealed a well-defined, curvilinear T1 and T2 hyperintense lesion (measuring 1.2×0.4 cm) in the superior half of the cerebellar vermis. It appeared h...

BACKGROUND AND PURPOSE Midbrain-hindbrain involvement in septo-optic dysplasia has not been well described, despite reported mutations of genes regulating brain stem patterning. We aimed to describe midbrain-hindbrain involvement in patients with septo-optic dysplasia and to identify possible clinical-neuroimaging correlations. MATERIALS AND METHODS Using MR imaging, we categorized 38 patient...

A two-year-old boy, born of non-consanguineous marriage was brought with delayed motor and language milestones. The parents had also noted abnormal eye movements and periodic breathing difficulty since early infancy. The child was third of three sibs and the other two sibs were normal. On examination, the child was hypotonic and mentally retarded and had severe truncal ataxia and oculomotor apr...

Prenatal diagnosis of congenital and acquired cerebellar disorders is possible by the use of ultrasound (US) and magnetic resonance imaging (MRI). Although numerous studies have been conducted in this field, diagnostic uncertainties are still common in daily clinical practice. This review outlines five possible pitfalls in the diagnosis of fetal cerebellar disorders: confusion between different...

BACKGROUND Spasmus nutans and congenital ocular motor apraxia share clinical characteristics. However, their development in a patient with cerebellar vermian hypoplasia has not been previously described. OBJECTIVE To report spasmus nutans and congenital ocular motor apraxia in a child with cerebellar vermian hypoplasia. DESIGN Case report. SETTING Tertiary-care hospital. Patient A 7-year-...