MRI of Joubert's syndrome

Cerebello-oculo-renal syndromes including Arima, Senior-L�ken and COACH syndromes: More than just variants of Joubert syndrome

“…In most patients studied, MRI of the cerebral hemispheres was interpreted as normal. However, a few have had documented cortical dysplasia [Dekaban, 1969;Houdou et al, 1986;Ivarsson et al, 1993;Matsuzaka et al, 1986;Shen et al, 1994]. Several others have had hypoplasia of the corpus callosum [Kumar and Rankin, 1996;Shen et al, 1994].…”

“…Several other patients had pathological changes that also appeared to be compatible with this malformation. The severity of the vermis hypoplasia component varied considerably, as 13 patients had changes compatible with DandyWalker malformation [Aicardi et al, 1983;Dekaban, 1969;Dooley et al, 1992, Goldston et al, 1963Houdou et al, 1986;Keuth et al, 1996;Kudo et al, 1985;van Dorp et al, 1991] and 10 had occipital cephaloceles [Aicardi et al, 1983;Dekaban, 1969;Houdou et al, 1986;Ivarsson et al, 1993;Shen et al, 1994;van Dorp et al, 1991]. In most patients, the occipital cephaloceles appeared to consist of herniation of the retrocerebellar (Dandy-Walker) cyst through an occipital skull defect.…”

“…In most patients, the occipital cephaloceles appeared to consist of herniation of the retrocerebellar (Dandy-Walker) cyst through an occipital skull defect. In at least 1 patient, the cephalocele consisted of occipital lobe tissue [Shen et al, 1994].…”

Cranial sonographic findings in Joubert's syndrome

“…This syndrome, now known as Joubert's syndrome, appears to be one of a spectrum of congenital malformation syndromes involving the central nervous system, the eyes, the liver, and the kidneys. 2 The characteristic MRI findings have been described by a few authors, 3,4 and antenatal diagnosis of Joubert's syndrome by sonography has been recently reported. 5,6 To date, the postnatal cranial sonographic features have not been described.…”

Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings

“…Steinlin et al 15 reviewing 34 subjects with NPCA found three pairs of siblings but only one child had vermis cerebellar hypoplasia as the only abnormality, since the other siblings had also hemispheres cerebellar hypoplasia or even normal cerebellum. Joubert's syndrome is a rare autosomal recessive condition and the criteria for the diagnosis has been outlined: irregular breathing in the neonatal period, developmental delay, mental retardation, hypotonia, ocular motor abnormalities, and, occasionally, retinal dystrophy and cystic kidneys associated with cerebellar malformation consisting in vermis hypoplasia or agenesis and abnormalities at the pontomesencephalic junction [16][17][18][19] . We describe the clinical and radiological findings of a pair of siblings and compare them with the literature.…”