A Rare Ciliopathy: Joubert Syndrome

Öz

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.

Anahtar Kelimeler

• Joubert syndrome
• Molar tooth
• Ciliopathy

Nadir Bir Siliopati: Joubert Sendromu

Öz

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.

Anahtar Kelimeler

• Joubert sendromu
• Molar diş
• Siliopati

Kaynakça

1. 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. 2. Akhtar A, Hassan SA, Falah NU, Khan M, Sheikh FN. Joubert Syndrome: A Rare Radiolo-gical Case. Cureus 2019;11:e6410.
3. 3. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orpha-net J Rare Dis 2010;5:20.
4. 4. Shaik L, Ravalani A, Nelekar S, Gorijala VK, Shah K. Joubert Syndrome: A Molar Tooth Sign in Disguise. Cureus 2020;12:e9718.
5. 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. 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. 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. 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. 9. Elhassanien AF, Alghaiaty HA. Joubert syndrome: Clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol 2013;16:239-44.
10. 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. 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. 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.