828 research outputs found
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
No full textJoubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome
Joubert Syndrome and Renal Implication
No full textTwenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban-Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele. The other, more common RD is juvenile nephronophthisis (NPHP), that presents a progressive interstitial fibrosis, associated with small cysts at the corticomedullary junction. NPHP is the most frequent genetic cause for end-stage RD in the first three decades of life. Symptoms start at approximately 6 years of age with urine concentrating defects, polydipsia, polyuria, and secondary enuresis
Genotypes and phenotypes of Joubert syndrome and related disorders
No full textJoubert syndrome is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The neuroradiological hallmark of JS is a complex midbrain-hindbrain malformation known as the "molar tooth sign" (MTS), originating from the association of cerebellar vermis hypo-/aplasia, horizontally-oriented and thickened superior cerebellar peduncles and a deepened interpeduncular fossa. A group of pleiotropic conditions, termed "Joubert syndrome related disorders" (JSRDs), present the pathognomonic clinical and neuroradiological features of JS associated with the variable involvement of other organs and systems, mainly the eyes and kidneys. Genetic heterogeneity mirrors the clinical heterogeneity of JSRDs, with several genes identified over the last few years. By reviewing all molecular screenings of JSRD patients published so far and evaluating genotype-phenotype correlates, we propose an algorithm for molecular diagnosis of these conditions. We also discuss the emerging clinical and genetic overlap between JSRDs and a growing number of distinct syndromes that share a common pathogenetic mechanism that is the loss of normal function of the primary cilium and its apparatus. (c) 2007 Elsevier Masson SAS. All rights reserved
Exploring Joubert Syndrome: A Rare Case Study from Indonesia
No full textBackground: Joubert Syndrome is a rare autosomal recessive disorder characterized by midbrain-hindbrain malformation and multisystem involvement. This study aims to present a detailed case of Joubert Syndrome from Indonesia, emphasizing clinical presentation, diagnostic challenges, and management strategies in a resource-limited setting.
Methods: This descriptive case study examines a newborn female referred for breathing difficulties and a skull tumor present since birth. Data were collected through clinical evaluations, imaging studies, laboratory tests, genetic analysis, and multidisciplinary consultations. A literature review was conducted to compare the findings with global data.
Result: The first case involved a female infant with hydrocephalus, a posterior skull mass, and microcornea. Echocardiography showed a patent foramen ovale, while genetic analysis confirmed a normal 46,XX karyotype. The second case featured a male infant with posterior meningocele, seizures, and retinal dystrophy. EEG confirmed subclinical seizures, and genetic testing identified pathogenic TMEM237 mutations consistent with Joubert Syndrome type 14. Both infants received respiratory support, antibiotics, and targeted treatments, resulting in significant clinical improvement.
Conclusions: These cases highlight the importance of multidisciplinary care and genetic testing in Joubert Syndrome diagnosis and management. Early recognition, advanced diagnostics, and consistent follow-up are crucial for optimizing outcomes, particularly in resource-limited settings
Joubert Syndrome in Three Children in A Family: A Case Series
No full textAbstractHow 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 abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features.Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders.Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs’ disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI. References1. Ahmed J, Ali US. Joubert syndrome with nephronophthisis in neurofibromatosis type 1. Saudi J Kidney Dis Transpl 2011;22(4):788-91.2. Singh P, Goraya JS, Saggar K, Ahluwalia A. A report of Joubert syndrome in an infant, with literature review. J Pediatr Neurosci 2011;6(1):44-7.3. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010;5:20.4. Malaki M, Nemati M, Shoaran M. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi J Kidney Dis Transpl 201;23(2):325-9.5. Louie CM, Gleeson JG. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 2005; 15;14 Spec No. 2:R235-42.6. Gill H, Muthusamy B, Atan D, Williams C, Ellis M. Joubert syndrome presenting with motor delay and oculomotor apraxia. Case Rep Pediatr 2011;2011:262641.7. Duldulao NA, Lee S, Sun Z. Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development 2009;136(23):4033-42.8. Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 2009;15;151C(4):326-40.9. Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, et al. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 2005;42(2):e9.10. Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12(7):423–30.
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
Open brief aan den WelEdel. Gestr. Heer P.J. Joubert
No full textleyds-70-7201.pdf created from original pamphlet in the WJ Leyds Collection held in the Africana Section of the Stellenbosch University Library and Information Service.Dutch open letter to P.J. Joubert concerning a railroad concession granted to the author and two of his friends in 1885
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
No full textJoubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique cerebellar and brainstem malformation recognisable on brain imaging-the so-called molar tooth sign. Neurological signs are present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 21 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus. The primary cilium is a subcellular organelle that has key roles in development and in many cellular functions, making Joubert syndrome part of the expanding family of ciliopathies. Notable clinical and genetic overlap exists between distinct ciliopathies, which can co-occur even within families. Such variability is probably explained by an oligogenic model of inheritance, in which the interplay of mutations, rare variants, and polymorphisms at distinct loci modulate the expressivity of the ciliary phenotype
Age and sex prevalence estimate of Joubert syndrome in Italy
No full textTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort
Renal symptoms in the Joubert syndrome
No full textOBJECTIVE:To describe the case of a patient with Joubert syndrome associated with renal impairments. CASE DESCRIPTION: A 2 month-old patient was admitted with hypotonia and hyperpneia. At the physical exam, besides irregular breathing pattern, abnormal eye movements and arterial hypertension without abnormalities in cardiac or pulmonary sounds were observed. At the initial clinical and laboratorial investigations, cardiac and pulmonary causes were excluded. The diagnostic hypothesis was: neurological illness associated with renal disease. Laboratorial analysis showed respiratory alkalosis, metabolic acidosis and hyperkalemia, with normal renal function. In the magnetic resonance, images of neurological alterations were compatible with the molar tooth sign, frequently associated with Joubert syndrome. Renal investigation was performed and cystic images in renal parenchyma were found. COMMENTS: Cardiac and pulmonary illness are frequently associated with clinical manifestations such as tachypnea and metabolic alterations. Nevertheless, neurological investigation may be necessary, since some diseases that affect the central nervous system may manifest these signs and symptoms. Association between renal alterations and central nervous system malformations are frequent in several diseases and should be investigated. Joubert syndrome and its associated disorders are characterized by aplasia of the cerebellar vermis, ataxia, abnormal eye movements and irregular breathing pattern with psychomotor and mental delay. The most frequent renal problems associated with the disease are renal cysts and nephronophtisis that can progress to end-stage renal failure.OBJETIVO:Descrever o caso clínico de paciente com Síndrome de Joubert associada a alterações renais. DESCRIÇÃO DO CASO: Paciente de dois meses de idade admitida com quadro hipotonia e hiperpneia. Ao exame físico, observaram-se, além da respiração irregular, movimentos oculares anormais e hipertensão arterial; não se evidenciaram alterações na ausculta cardíaca e pulmonar. Durante investigação clínico-laboratorial inicial, as causas cardíacas e pulmonares foram descartadas. Aventaram-se hipóteses diagnósticas de patologias neurológicas com doença renal. Os exames laboratoriais mostraram presença de alcalose respiratória, acidose metabólica e hipercalemia, com função renal normal. A ressonância magnética evidenciou alterações neurológicas compatíveis com sinal do dente molar, quadro frequentemente associada à Sindrome de Joubert. Levando-se em consideração a associação dessa síndrome com alterações renais, a investigação nefrológica demonstrou imagens císticas em parênquima renal. COMENTÁRIOS: Patologias cardíacas e pulmonares estão frequentemente associadas a manifestações clínicas como taquipneia e distúrbios metabólicos. Entretanto, pode ser necessária uma investigação neurológica porque diversas doenças que acometem o sistema nervoso central apresentam tais alterações. A associação entre alterações renais e malformações de sistema nervoso central é frequente em diversos processos sindrômicos, justificando-se a sua investigação. A Síndrome de Joubert e as desordens a ela relacionadas caracterizam-se por aplasia do vermix cerebelar, ataxia, movimentos oculares anormais, respiração irregular e retardo do desenvolvimento neuropsicomotor. As alterações renais mais comuns são os cistos renais e a nefronoftise, que pode progredir para doença renal terminal.UNIFESP Departamento de Pediatria setor de Nefrologia PediátricaUNIFESP, Depto. de Pediatria setor de Nefrologia PediátricaSciEL
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