Brain Stem and Cerebellar Findings in Joubert Syndrome

Alorainy, Ibrahim A.; Sabir, Sohail; Seidahmed, Mohammed Zain; Farooqu, Hamid A; Salih, Mustafa A.

doi:10.1097/01.rct.0000191681.05473.13

Cited by 35 publications

(29 citation statements)

References 15 publications

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“…19 Vermis hypoplasia appears as a fluid communication between the fourth ventricle and the CM that persists after 18 weeks of gestation. 9 In the JSRD-affected fetuses in this study, a midline cerebellar cleft in place of the hypoplastic vermis on coronal images pointed to vermian hypoplasia ( Fig 2D). Precise measurement of the midline cerebellum was not possible in the JSRD-affected fetuses due to herniation of cerebellar hemispheres at the midsagittal MR images, which gave a pseudovermis appearance and erroneous impression of intact midline cerebellum ( Figs 2C and 3A).…”

Section: Discussionmentioning

confidence: 99%

“…[16][17][18][19][20] MTS is considered the cardinal diagnostic imaging sign for JSRD. [5][6][7]9,13 In 1 study, the MTS was reported to be pathognomonic of this anomaly. 5 The underlying pathology of MTS is lack of normal decussation of superior cerebellar peduncular fibers that leads to enlarged peduncles that follow a more horizontal course between the midbrain and the cerebellum.…”

Section: Discussionmentioning

confidence: 99%

“…[5][6][7] Other MR imaging signs include a midline cerebellar cleft in place of the hypoplastic vermis on coronal images, as well as the characteristic anteriorly convex floor of the fourth ventricle on axial images. 6,8,9 The prognosis of JSRD could be poor, as it is associated with severe mental and motor retardation in many cases. 10,11 Parents of a child with JSRD have a 25% chance of conceiving an affected fetus with each pregnancy.…”

mentioning

confidence: 99%

“…MTS is the cardinal diagnostic sign visualized on axial imaging at the pontomesencephalic junction in almost all cases of JSRD. [5][6][7][8][9] MTS describes narrow isthmus, deep interpeduncular fossa, and thick horizontally placed superior cerebellar peduncles. [5][6][7] Other MR imaging signs include a midline cerebellar cleft in place of the hypoplastic vermis on coronal images, as well as the characteristic anteriorly convex floor of the fourth ventricle on axial images.…”

mentioning

confidence: 99%

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Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Saleem¹,

Zaki²

2009

AJNR Am J Neuroradiol

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Saleem¹,

Zaki²

2009

AJNR Am J Neuroradiol

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“…The recurrence risk is 25% (22), and an antenatal investigation of JS by ultrasound and/or MRI must be performed in cases with a sibling with JS (23).…”

Section: Discussionmentioning

confidence: 99%

Structural abnormalities of the brain other than molar tooth sign in joubert syndrome related disorders

Senocak

Oğuz²,

Haliloğlu³

et al. 2009

Diagn Interv Radiol

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Joubert et al. first described in 1969 four siblings who had episodes of abnormal breathing and eye movements, ataxia, and mental retardation in association with vermian agenesis and meningoencephalocele in one sibling (1). The name Joubert syndrome (JS) was given several years later when an additional set of patients with similar findings was reported. The neuroradiological hallmark of JS is a complex midbrainhindbrain malformation that creates the molar tooth sign (MTS): (i) thinning of the isthmus with widened interpeduncular fossa; (ii) thickened superior cerebellar peduncles lying perpendicular to the dorsal pons; (iii) hypoplasia of the vermis with enlargement of the fourth ventricle and rostral shift of the fastigium; and (iv) sagittal vermian cleft due to incomplete fusion of the two halves of vermis (2). The absence of a normal vermis leads midline apposition of the cerebellar hemispheres and results in characteristic "batwing" appearance of the fourth ventricle on transverse imaging (3). There is a group of conditions, termed Joubert syndrome-related disorders (JSRDs) with clinical and radiological evidence of JS associated with additional findings and variable involvement of other organs and systems, mainly the eyes and kidneys.Although hindbrain malformation has been well described in the literature, there appears no detailed study concerning coexisting structural abnormalities in JS, to the best of our knowledge. In this retrospective study, we aimed to investigate the cranial malformations other than MTS in JS and their frequency. Materials and methodsCranial magnetic resonance imaging (MRI) of 20 patients (age range, 18 months-17 years; male/female, 13/7) diagnosed with JS by two experienced pediatric neurologists (GH, MT) were reviewed. Brain MRIs of the patients were performed on a 1.5-T system (Magnetom, Symphony, Siemens Medical Systems, Erlangen, Germany) between 2002 and 2008. All patients had at least the following MR sequences: axial and sagittal T1-weighted (W) spin echo (SE) (TR/TE, matrix, field of view,, axial and coronal T2W SE (TR/TE, 4000-5000/100 ms; matrix, 192-256; field of view, 230-230 mm), and axial fluid-attenuated inversion-recovery (FLAIR) (TR/TE/TI, 8500/98/2150 ms; matrix, 192-256; field of view, 230-230 mm). Two neuroradiologists (KKO, EUS) evaluated MR images in consensus. Following assessment of cerebellar vermis, cerebellar peduncles, and mesencephalon, special attention was paid to evaluation of supratentorial structures and cerebellum. Abnormalities other than MTS were noted.

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Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome

Spampinato

Kraas

Maria

et al. 2008

American J of Med Genetics Pt A

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Joubert syndrome (JS) is characterized by absence of decussation of both corticospinal tracts and superior cerebellar peduncles (SCP). Our hypothesis was that evidence for absence of SCP decussation may be found on routine brain MRI studies. Midsagittal T1-weighted images from 20 JS patients and 30 age-matched controls were retrospectively reviewed. An ill-defined area of lower T1 signal in the inferior midbrain was considered the sign of SCP decussation, and its presence or absence was noted. Fractional anisotropy (FA) maps were obtained in three JS patients and four controls. The SCP decussation was not visualized in any subject under 30 months of age. In subjects above 30 months of age the sign of the SCP decussation was absent in all 6 JS patients and present in all 16 controls. FA maps confirmed the absence of the SCP decussation in the JS patients. The SCP decussation is well seen on routine brain MRI studies in controls older than 30 months of age and absent in all JS patients, confirming the proposed lack of commissural fibers in JS, and accounting in part for the molar tooth sign.

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Brain Stem and Cerebellar Findings in Joubert Syndrome

Cited by 35 publications

References 15 publications

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Structural abnormalities of the brain other than molar tooth sign in joubert syndrome related disorders

Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome

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