NÜKHET ALADAĞ ÇİFTDEMİR, Serap KARASALİHOĞLU, Ülfet VATANSEVER, Naci ÖNER, Coşkun ÇELTİK, Ercüment ÜNLÜ, Ufuk UTKU

Joubert sendromlu bir vaka sunumu

Serebelloparenkimal hastalık tip IV, Joubert- Boltshauser sendromu veya serebellookulorenal sendrom tip I olarak da isimlendirilen Joubert sendromu kinik olarak düzensiz solunum, ataksi, okulomotor anormallikler, gelişme geriliği, hipotoni, optik kolobom, kistik-displastik böbrek, karaciğer nekrozu, dilde hamartom ve polidaktili ile karakterizedir. Beyin görüntülemelerindeki serebellar vermis hipoplazisi ve beyin sapında molar diş görüntüsü ile teşhis edilmektedir. Bu vaka sunumunda Joubert sendromlu 26 aylık erkek çocuğunun klinik ve beyin görüntülemesindeki özellikler sunulmuştur.

Anahtar Kelimeler:

Hareket bozuklukları, Anomaliler, çoklu, Çocuk, okul öncesi, Manyetik rezonans görüntüleme, Erkek

A case report of Joubert syndrome

Joubert syndrome which also named as cerebelloparenchymal disorder IV, Joubert-Boltshauser syndrome or cerebellooculorenal syndrome I, is characterized clinically by disturbances of breathing, ataxia, oculomotor abnormalities, developmental delays, hypotonia, optic coloboma, cyctic dysplastic kidney, liver fibrosis, hamartomas tongue and polydactily. The diagnosis is confirmed by brain imaging by cerebeller vermis hypoplasia and “molar-tooth” sign of the brainstem. Here we report the clinical and cranial imaging features of a 26 month old boy with Joubert syndrome.

Keywords:

Movement Disorders, Abnormalities, Multiple, Child, Preschool, Magnetic Resonance Imaging, Male,

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1. Maria BL, Bolthauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999; 14:583-90.
2. Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Goncalves S, Barbot MC. Joubert syndrome: report of 12 cases. Rev Neurol 2001; 32:812-7.
3. Anthony TY, Lucy BR. Cerebellar and brainstem development: an overview in relation to Joubert Syndrome. J Child Neurol 1999; 14:570-3.
4. Miller KJ, Millonig JH, Wingate RJ, Alder J, Hatten ME. Neurogenetics of cerebellar system. J Child Neurol 1999; 14:574-82.
5. Blair IP, Gibson RR, Bennett CL, Chance PF. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BAHRL1. Am J Med Genet 2002; 107:190-6.
6. Aslan H, Ülker V, Gülcan EM, ve ark. Prenatal diagnosis of Joubert syndrome: a case report. Prenat Diagn 2002; 22:13-6.
7. Maria BL, Quisling RG, Rosainz LC, et al. Molar tooth sign in Joubert syndrome: clinical, radiological, and pathologic significance. J Child Neurol 1999; 14:368-76.
8. Fennell EB, Gitten JC, Dede DE, Maria BL. Cognition, behavior, and development in Joubert Syndrome. J Child Neurol 1999; 14:592-6.
9. van Beek EJ, Majoie CB. Case 25: Joubert syndrome. Radiology 2000; 216:379-82.
10. Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert syndrome. Neuropediatrics 1997; 28:204-11.