Abstract
Joubert syndrome is a rare autosomal recessive ciliopathy characterized by abnormal breathing patterns, hypotonia, ataxia, cerebellar vermis hypoplasia, developmental delay, ocular abnormalities, renal cysts and hepatic fibrosis. Molar tooth appearance on cranial magnetic resonance imaging (MRI) is an important finding for the diagnosis of Joubert syndrome. Awareness of the characteristic clinical and radiological findings of the syndrome will allow early diagnosis, appropriate counseling and proper rehabilitation. A patient who admitted to our hospital with hypotonia and abnormal eye movements and was diagnosed with Joubert syndrome is presented.
Keywords
References
- 1. Kumar P, Dey A, Mittal K, Sharma R, Goyal A, Hira P. Joubert syndrome: A classic case. J Family Med Prim Care 2019;8:311-312
- 2. Akhtar A, Hassan SA, Falah NU, Khan M, Sheikh FN. Joubert Syndrome: A Rare Radiolo-gical Case. Cureus 2019;11:e6410.
- 3. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orpha-net J Rare Dis 2010;5:20.
- 4. Shaik L, Ravalani A, Nelekar S, Gorijala VK, Shah K. Joubert Syndrome: A Molar Tooth Sign in Disguise. Cureus 2020;12:e9718.
- 5. Akcakus M, Gunes T, Kumandas S, Kurtoglu S, Coskun A. Joubert syndrome: Report of a neonatal case. Paediatr Child Health 2003;8:499-502.
- 6. Parisi M, Glass I. Joubert Syndrome. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Ar-dinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. editors. GeneRe-views® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.
- 7. Salva I, Albuquerque C, Moreira A, Dâmaso C. Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period. BMJ Case Rep 2016 Jan 12;2016:bcr2015213127.
- 8. Wang SF, Kowal TJ, Ning K, Koo EB, Wu AY, Mahajan VB, et al. Review of Ocular Ma-nifestations of Joubert Syndrome. Genes (Basel) 2018 ;9:605.
- 9. Elhassanien AF, Alghaiaty HA. Joubert syndrome: Clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol 2013;16:239-44.
- 10. Parisi MA. The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. Transl Sci Rare Dis 2019;4:25-49.
- 11. Bin Dahman HA, Bin Mubaireek AH, Alhaddad ZH. Joubert syndrome in a neonate: case report with literature review. Sudan J Paediatr 2016;16:53-7.
- 12. Pellegrino JE, Lensch MW, Muenke M, Chance PF. Clinical and molecular analysis in Jo-ubert syndrome. Am J Med Genet 1997;72:59-62.
Abstract
Joubert sendromu anormal solunum paterni, hipotoni, ataksi, serebellar vermis hipoplazisi, gelişim geriliği, oküler anomaliler, renal kistler ve hepatik fibrozis ile karakterize otozomal resesif geçişli nadir bir siliopatidir. Kraniyal manyetik rezonans görüntüleme (MRG) bulgularında molar diş görünümü Joubert sendromunun tanısında önemli bir bulgudur. Joubert sendromunun karakteristik klinik ve radyolojik bulgularının farkında olunması erken tanı, uygun danışmanlık ve rehabilitasyona yardımcı olacaktır. Bu yazıda hipotoni ve anormal göz hareketleri ile hastanemize başvuran ve Joubert sendromu tanısı alan bir hasta sunulmuştur.
Keywords
References
- 1. Kumar P, Dey A, Mittal K, Sharma R, Goyal A, Hira P. Joubert syndrome: A classic case. J Family Med Prim Care 2019;8:311-312
- 2. Akhtar A, Hassan SA, Falah NU, Khan M, Sheikh FN. Joubert Syndrome: A Rare Radiolo-gical Case. Cureus 2019;11:e6410.
- 3. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orpha-net J Rare Dis 2010;5:20.
- 4. Shaik L, Ravalani A, Nelekar S, Gorijala VK, Shah K. Joubert Syndrome: A Molar Tooth Sign in Disguise. Cureus 2020;12:e9718.
- 5. Akcakus M, Gunes T, Kumandas S, Kurtoglu S, Coskun A. Joubert syndrome: Report of a neonatal case. Paediatr Child Health 2003;8:499-502.
- 6. Parisi M, Glass I. Joubert Syndrome. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Ar-dinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. editors. GeneRe-views® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.
- 7. Salva I, Albuquerque C, Moreira A, Dâmaso C. Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period. BMJ Case Rep 2016 Jan 12;2016:bcr2015213127.
- 8. Wang SF, Kowal TJ, Ning K, Koo EB, Wu AY, Mahajan VB, et al. Review of Ocular Ma-nifestations of Joubert Syndrome. Genes (Basel) 2018 ;9:605.
- 9. Elhassanien AF, Alghaiaty HA. Joubert syndrome: Clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol 2013;16:239-44.
- 10. Parisi MA. The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. Transl Sci Rare Dis 2019;4:25-49.
- 11. Bin Dahman HA, Bin Mubaireek AH, Alhaddad ZH. Joubert syndrome in a neonate: case report with literature review. Sudan J Paediatr 2016;16:53-7.
- 12. Pellegrino JE, Lensch MW, Muenke M, Chance PF. Clinical and molecular analysis in Jo-ubert syndrome. Am J Med Genet 1997;72:59-62.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | CASE REPORTS |
| Authors | |
| Publication Date | July 7, 2022 |
| Submission Date | July 7, 2021 |
| Published in Issue | Year 2022 Volume: 16 Issue: 4 |
The publication language of Turkish Journal of Pediatric Disease is English.
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The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.