102,469 research outputs found
A case of joubert syndrome with t (20; 21)
No full textJoubert syndrome (JS) is a developmental disorder characterized by cerebellar vermis hypoplasia, hypotonia, psychomotor retardation, abnormal respiratory pattern and abnormal eye movements. The biochemical basis of JS and underlined molecular mechanisms are unknown. Our study presents a case of Joubert syndrome. The diagnosis was made by the clinical symptoms and magnetic resonance imaging of the brain. A two and a half month old female patient presented here is the second child of nonconsanguineous parents. She shows the characteristic findings of the syndrome such as jerky eye movements, episodic tachypnea and cerebellar vermis agenesis. She also has asymmetric head and microcephaly, retinal degeneration, atrial septal defect and myoclonic seizures. Her chromosome composition was 45,XX,-20,-21,+der (20), t(20;21) (q 13.3;q 11.2). This chromosomal abnormality is described for the first time in association with Joubert Syndrome.Joubert syndrome (JS) is a developmental disorder characterized by cerebellar vermis hypoplasia, hypotonia, psychomotor retardation, abnormal respiratory pattern and abnormal eye movements. The biochemical basis of JS and underlined molecular mechanisms are unknown. Our study presents a case of Joubert syndrome. The diagnosis was made by the clinical symptoms and magnetic resonance imaging of the brain. A two and a half month old female patient presented here is the second child of nonconsanguineous parents. She shows the characteristic findings of the syndrome such as jerky eye movements, episodic tachypnea and cerebellar vermis agenesis. She also has asymmetric head and microcephaly, retinal degeneration, atrial septal defect and myoclonic seizures. Her chromosome composition was 45,XX,-20,-21,+der (20), t(20;21) (q 13.3;q 11.2). This chromosomal abnormality is described for the first time in association with Joubert Syndrome
La vie et les oeuvres de Laurent Joubert, auteur de la célèbre pharmacopée : Louis Dulieu, Laurent Joubert, chancelier de Montpellier, in Renaissance et humanisme, t. XXXI, 1969
No full textGuitard Eugène-Humbert. La vie et les oeuvres de Laurent Joubert, auteur de la célèbre pharmacopée : Louis Dulieu, Laurent Joubert, chancelier de Montpellier, in Renaissance et humanisme, t. XXXI, 1969. In: Revue d'histoire de la pharmacie, 58ᵉ année, n°205, 1970. pp. 131-132
La vie et les oeuvres de Laurent Joubert, auteur de la célèbre pharmacopée : Louis Dulieu, Laurent Joubert, chancelier de Montpellier, in Renaissance et humanisme, t. XXXI, 1969
No full textGuitard Eugène-Humbert. La vie et les oeuvres de Laurent Joubert, auteur de la célèbre pharmacopée : Louis Dulieu, Laurent Joubert, chancelier de Montpellier, in Renaissance et humanisme, t. XXXI, 1969. In: Revue d'histoire de la pharmacie, 58ᵉ année, n°205, 1970. pp. 131-132
Diffusion tensor imaging in Joubert syndrome
No full textBACKGROUND AND PURPOSE: Neuropathologic findings and preliminary imaging studies demonstrated the absence of pyramidal tract and superior cerebellar peduncular decussation in individual patients with Joubert syndrome (JS). We hypothesized that functional-structural neuroimaging findings do not differ between the genetic forms of JS. MATERIALS AND METHODS: MR imaging was performed with a 3T MR imaging-unit. Multiplanar T2-and TI-weighted imaging was followed by diffusion tensor imaging (DTI). Isotropic diffusion-weighted images, apparent diffusion coefficient maps, and color-coded fractional anisotropy maps, including tractography, were subsequently calculated. RESULTS: In all 6 patients studied, DTI showed that the fibers of the superior cerebellar peduncles did not decussate in the mesencephalon and the corticospinal tract failed to cross in the caudal medulla. The patients represented various genetic forms of JS. CONCLUSION: In JS, the fibers of the pyramidal tract and the superior cerebellar peduncles do not cross, irrespective of the underlying mutation
Joubert Syndrome - A Case Report
No full textJoubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation
Joubert syndrome associated with total corpus callosum agenesis
No full textJoubert syndrome was first described in 1969. It is a rare inherited disorder demonstrating one of the developmental defects of the cerebellar vermis. The main clinical signs of the syndome include developmental delay, hypotonia, ataxia, abnormal ocular movements and abnormal respiratory pattern of alternating episodic tachypnea-hyperpnea and apnea. Radiological findings comprise a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricule. Associated supratentorial abnormalities such as callosal dysgenesis have been infrequently reported in patients with Joubert syndrome This report describes the clinical and neuroradiological findings of a rare patient presenting Joubert syndrome associated with total corpus callosum agenesis
Letter, [Author unclear] to Paulina T. Merritt
No full textHandwritten letter to Paulina Merritt from an unknown author, October 1, 1876.
Joubert syndrome: accuracy of neuro-radiological findings
No full textTo evaluate the accuracy of neuroimaging in establishing the diagnosis of Joubert syndrome. Computed tomography (CT) and magnetic resonance imaging (MRI) were performed in seven infants/children with the clinical diagnosis of Joubert syndrome. The clinical diagnoses were based on characteristic clinical features. The CT scans were performed on a single detector helical CT scans and the MRI were performed on 1-T and 1.5-T MRI systems. All studies were evaluated for the presence of cerebellar vermian aplasia/hypoplasia, cerebellar hypoplasia, horizontal alignment of the superior cerebellar peduncle, “molar tooth” configuration of the brainstem and “bat wing” appearance of the fourth ventricle. Other neuroimaging abnormalities such as hydrocephalus, dysgenesis of the corpus callosum were also reported. Cerebellar vermian hypoplasia with a midline cleft, horizontal alignment of the superior cerebellar peduncle, “molar tooth” configuration of the brainstem and dilated fourth ventricle with “bat wing” appearance in all patients. Cerebellar hemisphere hypoplasia was seen only in three cases. Brainstem molar tooth sign, fourth ventricular bat wing sign and the horizontal orientation of the superior cerebellar peduncles are characteristic findings Joubert syndrome. (J Pediatr Neurol 2004; 2(1): 33-37)
Joubert Syndrome with Variable Features: Presentation of Two Cases
No full textHow to Cite this Article: Barzegar M, Malaki M, Sadegi-Hokmabadi E. Joubert Syndrome with Variable Features: Presentation of Two Cases. Iran J Child Neurol. 2013 Spring;7(2):43-46. AbstractJoubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. We present two cases of this syndrome with different phenotypes. The first case was an 8-month-old girl with hypotonia, apnea, and mild developmental delay as well as retinal degeneration and unilateral renal cystic dysplasia. The second case was a 27-month-old boy who presented with episodes of hyperpnea, apnea, retinal dystrophy, and severe global developmental delay. Both patients had normal metabolic profile and prototype imaging of joubert syndrome including vermis agenesis and molar tooth sign. References1. Zamponi N, Rossi B, Messori A, Polonara G, Regnicolo L, Cardinali C. Joubert syndrome with associated corpus callosum agenesis. Eur J Paediatr Neurol 2002;6(1):63-6.2. Ishikawa T, Zhu BL, Li DR, Zhao D, Michiue T, Maeda H. An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature. Forensic Sci Int 2008 Aug 6;179(2-3):e67-73.3. Joubert Syndrome Foundation, 2003. Available at http://www.joubertsyndrome.org. Accessed February 19, 2003.4. Joubert M, Eisenring JJ, Robb JP, Andermann F. Familialagenesis of the cerebellar vermis. A syndrome of episodichyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969 Sep;19(9):813-25. 5. Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999 Sep;14(9):583-90; discussion 590-1.6. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006;7:125-48. Review.7. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999 Oct;14(10):660-6; discussion 669-72. Review.8. Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, et al. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn 2005 Jun;25(6):442-7. Review.9. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Review.10. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndromerelated disorders. Am J Hum Genet 2007 Jul;81(1):104-13.11. Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr Nephrol 2009 Dec;24(12):2333-44.12. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 2004 Sep;36(9):1008-13.13. Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology 1968 Mar;18(3):302-3.14. Boltshauser E, Herdan M, Dumermuth G, Isler W. Joubertsyndrome: clinical and polygraphic observations in a further case. Neuropediatrics 1981 May;12(2):181-9
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
No full textCiliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning defects. The basal body/kinocilium complex was often uncoupled from the hair bundle, suggesting aberrant basal body migration, although planar cell polarity and apical planar asymmetry in the organ of Corti were normal. TMEM67 (meckelin) is essential for phosphorylation of the non-canonical Wnt receptor ROR2 (receptor-tyrosine-kinase-like orphan receptor 2) upon stimulation with Wnt5a-conditioned medium. ROR2 also colocalises and interacts with TMEM67 at the ciliary transition zone. Additionally, the extracellular N-terminal domain of TMEM67 preferentially binds to Wnt5a in an in vitro binding assay. Cultured lungs of Tmem67 mutant mice failed to respond to stimulation of epithelial branching morphogenesis by Wnt5a. Wnt5a also inhibited both the Shh and canonical Wnt/β-catenin signalling pathways in wild-type embryonic lung. Pulmonary hypoplasia phenotypes, including loss of correct epithelial branching morphogenesis and cell polarity, were rescued by stimulating the non-canonical Wnt pathway downstream of the Wnt5a-TMEM67-ROR2 axis by activating RhoA. We propose that TMEM67 is a receptor that has a main role in non-canonical Wnt signalling, mediated by Wnt5a and ROR2, and normally represses Shh signalling. Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital conditions
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