Joubert’s syndrome: new cases and review of clinicopathologic correlation

Sztriha, László; Al‐Gazali, Lihadh; Aithala, Guru Raj; Nork, Michael

doi:10.1016/s0887-8994(98)00154-4

Cited by 41 publications

(39 citation statements)

References 35 publications

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“…Several of these affected individuals developed retinal dystrophy, but renal disease has not been described. 14,52 An extended consanguineous Italian family 9 and several Arab families 53 showed linkage to a locus on the pericentromeric region of chromosome 11, termed the CORS2 (JBTS2) locus. Many of these subjects developed renal disease, and some had retinal dystrophy.…”

Section: Other Locimentioning

confidence: 99%

Joubert syndrome (and related disorders) (OMIM 213300)

et al. 2007

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Section: Other Locimentioning

confidence: 99%

Joubert syndrome (and related disorders) (OMIM 213300)

et al. 2007

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“…These include distorted bandlike structure of the dentate nuclei and grouping of its neurons into clusters or islands (many small islands of heterotopic gray matter scattered throughout the white matter), and abnormalities in the medulla, including dysplasia of the nuclei and tracts (19,20). Extensive brainstem malformation may explain the oculomotor apraxia and hyperpnea (21).…”

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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“…Many authors had recently published criteria for the diagnosis of Joubert syndrome, as Sztriha et al 20 and Maria et al 21 . The last one included common abnormalities characterized by hypotonia present in all patients, developmental delay including motor, language and adaptative behaviors, and many children are pleasant and friendly.…”

Section: Discussionmentioning

confidence: 99%

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

Bruck

Antoniuk

Neto

et al. 2000

Arq. Neuro-Psiquiatr.

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-We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.KEY WORDS: non-progressive congenital ataxia, cerebellar vermis hypoplasia, ocular motor abnormalities. Hipoplasia do verme cerebelar -ataxia congênita não progressiva: achados clínicos e radiológicos em dois irmãosRESUMO -Descrevemos e discutimos os achados clínicos e radiológicos de dois irmãos com hipoplasia do verme cerebelar e os comparamos com os relatos da literatura. Ambos apresentaram gestação e parto sem intercorrências, algum grau de hipotonia, ataxia, anormalidades oculares motoras, atraso motor discreto e fala arrastada. Estes irmãos preenchem muitos dos critérios descritos em ataxia congênita não progressiva, nos quais podem ocorrer casos familiais com atrofia cerebelar, incluindo hipoplasia do verme. Como diagnóstico diferencial, nós os comparamos com outras síndromes correlatas e com síndrome de Joubert,cujo achado radiológico característico é a hipoplasia do verme cerebelar associado com aparência de "dente molar" na ressonância magnética do crânio. A correta resposta para estes casos só será possível pela genética molecular. PALAVRAS-CHAVE: ataxia congênita não progressiva, hipoplasia do verme cerebelar, anormalidades oculares motoras.In recent decades several sporadic and familial cases of non-progressive congenital ataxia (NPCA) have been published [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] . 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:

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Joubert’s syndrome: new cases and review of clinicopathologic correlation

Cited by 41 publications

References 35 publications

Joubert syndrome (and related disorders) (OMIM 213300)

Joubert syndrome (and related disorders) (OMIM 213300)

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

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

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