Buradasınız

Anasayfa » Content

Joubert Sendromu: Beş Olgu Sunumu

Report of Five Cases With Joubert Syndrome

Journal Name:

  • Uludağ Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2004

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
Joubert syndrome is a rare autosomol recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea- apnea.The most characteristic imaging features are elongation and thinning of the pontomesencephalic junction with deepening of the interpeduncular fossa, thickening of the superior cerebellar peduncles, hypoplasia of the vermis and incomplete fusion of the halves of the vermis, creating a sagittal vermic cleft. The first three findings are components of the molar tooth sign. Our aim was to review the clinical features and the neuroradiological findings in 5 children with clinical diagnosis of Joubert syndrome.
Bookmark/Search this post with
Abstract (Original Language): 
Joubert sendromu otozomal resesif geçiş gösteren, hipotoni, ataksi, epizodik hiperpne nöbetleriyle seyreden bir hastalıktır. Klinik olarak anormal göz hareketleri, nistagmus, hiperpne-apne epizodları ve mental-motor gelişme geriliği izlenir. Temel radyolojik bulgular; vermisin tam veya parsiyel yokluğu, hipoplastik serebeller pediküller ve buna bağlı 4. ventrikül deformitesidir. Joubert sendromunda pons ve inferior kollikulus arasındaki beyin sapı bölgesinde (istmus) disgenezise bağlı ponto-mezansefalik birleşkede uzama, incelme ve interpediküler fossada derinleşme izlenir. Ayrıca süperior serebeller pediküllerde kalınlaşma ile 4. ventrikülde lobulasyon ve genişlemeye neden olan vermis hipoplazisi görülür. Bu üç bulgu aksiyal MR görüntülerde ‘molar diş’ görünümüne neden olur. Bu yazıda, Joubert sendromlu beş hastanın klinik ve radyolojik bulguları sunulmaktadır.
FULL TEXT (PDF): 
PDF icon arastirmax-joubert-sendromu-bes-olgu-sunumu.pdf
  • 2
119-122
  • Turkish

REFERENCES

References: 

1. 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.
Neuro-logy 1969; 19: 813-25.
2. 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; 14: 660-6.
3. Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal
M, Reis A, et al. Homo-zygosity mapping in families with
Joubert syndrome identifies a locus on chromosome 9q34.3
and evidence for genetic heterogeneity. Am J Hum Genet
1999; 65: 1666-7.
4. Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J
Med Genet 1992; 43:726-31
5. King MD, Dudgeon J, Stephenson JB. Joubert’s syndrome
with retinal dysplasia: neonatal tachypnoea as the clue to a
genetic brain-eye malformation. Arch Dis Child 1984; 59:709-
18.
6. Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up
in children with Joubert’s syndrome. Neuropediatrics 1997;
28:204-11.
7. Tusa RJ, Hove MT. Ocular and oculomotor signs in Joubert
syndrome. J Child Neurol 1999; 14: 621-7.
8. Saito Y,Ito M, Ozawa Y, Obani T,Kobayashi Y,Washizawa
K, et al.Changes of neuro-transmitters in the brainstem of
patients with respiratory-pattern disorders during
chıldhood.Neuropediatrics 1999,30:133-40
9. Quisling RG, Barkovich AJ, Maria BL. Magnetic resonance
imaging features and classification of central nervous system
malformations in Joubert Syndrome. J Child Neurol 1999; 14:
628-35.
10. Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P.
Joubert syndrome: a clinico-radiological study.
Neuroradiology 1990; 31:502-6.
11. Adamsbaum C, Moreau V, Bulteau C, Burstyn J, Lair Milan
F, Kalifa G. Vermian agenesis without posterior fossa cyst.
Pediatr Radiol 1994; 24:543-6.
12. Keogan MT, DeAtkine AB, Hertzberg BS. Cerebellar vermian
defects: antenatal sonographic appearance and clinical
significance. J Ultrasound Med 1994; 13:607-11.
13. Barkovich AJ. Pediatric neuroimaging. 2nd edition. New
York: Raven, 1995.
14. Satran D, Pierpont MEM, Dobyns WB. Cerebello-oculo-renal
syndromes including Arima, Senior-Löken and COACH
syndromes: more than just variants of Joubert syndrome. Am J
Med Genet 1999; 86:459-69.
15. Spinella GM. Research directions. Follow up of the Joubert
Syndrome Workshop, October 21, 1998. J Child Neurol 1999;
14: 667-72.
16. Habre W, Sims C, D’Souze M. Anaesthetic management of
children with Joubert syndrome. Paediatric Anaesth
1997;7:251-3

Thank you for copying data from http://www.arastirmax.com