Olgu Sunumu
BibTex RIS Kaynak Göster

Joubert Sendromunda Klinik ve Radyolojik Bulgular: Olgu Sunumu

Yıl 2023, , 95 - 98, 31.08.2023
https://doi.org/10.29228/erd.51

Öz

Joubert sendromu, otozomal resesif geçişli nadir olarak görülen bir hastalıktır. Beyincik ve beyin sapı anomalileri, okulomotor bozukluklar, solunum düzensizliği, hipotoni ve ataksi ile karakterizedir. İlk kez 1969 yılında, pediatrik nörolog Marie Joubert tarafından tanımlanmıştır. Bu olgu sunumunda, 14 yaşındaki Joubert sendromlu erkek hasta klinik ve radyolojik bulgular yönünden değerlendirilmiştir.
Joubert sendromlu hastaların diş hekimliği açısından multidisipliner olarak tedavi edilmesi gerekmektedir. Bununla birlikte bu hastalarda genelde solunum depresyonu olduğu için genel anestezi altında tedaviye temkinli yaklaşmak gerekmektedir.

Kaynakça

  • Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am. J. Med. Genet. A. 2007; 15(24):3235-3242.
  • Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J. Rare Dis. 2010; 5:20
  • Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Mortality in Joubert syndrome. Am. J. Med. Genet. A. 2017;173(5):1237-1242.
  • Goswami M, Rajwar AS, Verma M. Orocraniofacial findings of a pediatric patient with Joubert syndrome. Int. J. Clin. Pediatr. Dent. 2016;9(4):379-383.
  • Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19(9):813-825.
  • Mowafy YN, Wahba NA, Sharaf AA. Joubert plus syndrome with self-mutilation: a case report. J. Clin. Pediatr. Dent. 2017;41(1):66-69.
  • Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am. J. Med. Genet. C Semin. Med. Genet. 2009;151(4):326-340.
  • Patil V, Acharya S, Proothi C, Tripathi P, Tamrakar A, Vineetha R. Joubert syndrome with a rare finding of pathological mandibular angle fracture. J. Krishna Inst. Med. Sci. Univ. 2021;10(3): 88-93.

Clinical and Radiological Findings in Joubert Syndrome: Case Report

Yıl 2023, , 95 - 98, 31.08.2023
https://doi.org/10.29228/erd.51

Öz

Joubert syndrome is a rare autosomal recessive disorder. It is characterized by anomalies of the cerebellum and brainstem, oculomotor disorders, respiratory irregularity, hypotonia and ataxia. It was first described in 1969 by pediatric neurologist Marie Joubert. In this case report, a 14-year-old male patient with Joubert syndrome was evaluated in terms of clinical and radiological findings.
Patients with Joubert syndrome should be treated multidisciplinary in terms of dentistry. In addition, since these patients usually have respiratory depression, it is necessary to approach the treatment cautiously under general anesthesia.

Kaynakça

  • Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am. J. Med. Genet. A. 2007; 15(24):3235-3242.
  • Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J. Rare Dis. 2010; 5:20
  • Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Mortality in Joubert syndrome. Am. J. Med. Genet. A. 2017;173(5):1237-1242.
  • Goswami M, Rajwar AS, Verma M. Orocraniofacial findings of a pediatric patient with Joubert syndrome. Int. J. Clin. Pediatr. Dent. 2016;9(4):379-383.
  • Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19(9):813-825.
  • Mowafy YN, Wahba NA, Sharaf AA. Joubert plus syndrome with self-mutilation: a case report. J. Clin. Pediatr. Dent. 2017;41(1):66-69.
  • Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am. J. Med. Genet. C Semin. Med. Genet. 2009;151(4):326-340.
  • Patil V, Acharya S, Proothi C, Tripathi P, Tamrakar A, Vineetha R. Joubert syndrome with a rare finding of pathological mandibular angle fracture. J. Krishna Inst. Med. Sci. Univ. 2021;10(3): 88-93.
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Diş Hekimliği
Bölüm Olgu Sunumları
Yazarlar

Yeliz Güneş 0000-0001-7136-4205

Asım Dumlu 0000-0003-4330-0890

Yayımlanma Tarihi 31 Ağustos 2023
Yayımlandığı Sayı Yıl 2023

Kaynak Göster

APA Güneş, Y., & Dumlu, A. (2023). Joubert Sendromunda Klinik ve Radyolojik Bulgular: Olgu Sunumu. European Journal of Research in Dentistry, 7(2), 95-98. https://doi.org/10.29228/erd.51