Öz
Giriş: Joubert Sendromu otozomal resesif geçiş gösteren,
hipotoni, ataksi, epizodik hiperpne nöbetleriyle seyreden bir
hastalıktır. Temel radyolojik bulgular; vermisin tam veya parsiyel
yokluğu, hipoplastik serebeller pediküller ve buna bağlı 4.
ventrikül deformitesidir. Manyetik rezonans (MRI) görüntülerde
‘molar diş’ görünümüne neden olur.
Olgu Sunumu: Altmış dokuz yaşındaki erkek hasta acil servisimize
akut sol hemiparazi kliniği ile başvurdu. Çekilen konvensiyonel
kranial MRI’da serebellar hemisferler ve vermis hipoplazikti. Ayrıca
pons seviyesinde diffüzyon kısıtlanması gösteren akut iskemik
lezyon dikkati çekti. MRI’daki molar diş görüntüsü Joubert
Sendromu (JS) seyrinde olabileceğinden tanıya yönelik tetkikler
yapıldı. Hasta elde edilen bulgularla asemptomatik JS ve yeni tanı
pons enfarktı olarak değerlendirildi.
Sonuç: Bu olgu sunumunda acil kliniğine akut inme kliniği ile
başvuran takiplerinde Asemptomatik Joubert Sendromu tanısı
alan hastanın göz ve MRI bulguları ile birlikte sunduk.
Anahtar Kelimeler
Kaynakça
- Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet 2006; 43: 334-9. [CrossRef]
- 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. [CrossRef]
- 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. [CrossRef]
- Tusa RJ, Hove MT. Ocular and oculomotor signs in Joubert syndrome. J Child Neurol 1999; 14: 621-7. [CrossRef]
- Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert’s syndrome. Neuropediatrics 1997; 28: 204-11. [CrossRef]
- 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. [CrossRef]
- McGraw P. The molar tooth sign. Radiology 2003; 229: 671–2. [CrossRef]
- Singh P, Goraya JS, Saggar K, Ahluwalia A. A report of Joubert syndrome in an infant, with literature review. J Pediatr Neurosci 2011; 6: 44-7.
- Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, et al. Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes. Am J Med Genet A 2004; 125A: 125-34. [CrossRef]
- Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010; 5: 20. [CrossRef]
Öz
Introduction: Joubert syndrome is an autosomal recessive disease that is characterized by hypotonia, ataxia, and hyperpnea episodes. A hypoplastic cerebellar pedicle and complete or partial absence of the vermis are basic radiological findings and the cause of fourth ventricle deformity. These findings cause ‘molar tooth signs’ on magnetic resonance (MRI).Case Report: A 69-year-old male patient who had acute left hemiparesis was admitted to the emergency department. Conventional MRI revealed hypoplasia of the cerebellar pedicle and vermis. In addition, an acute ischemic lesion that was determined by the limitation of diffusion at the level of the pons was noticed. Molar tooth sign in the MRI might be in the course of Joubert syndrome (JS). Due to this finding, other diagnostic tests were performed for the diagnosis of JS. İn conclusion, the patient was diagnosed as asymptomatic Joubert syndrome and newly diagnosed pons infarction..Conclusion: In this case report, we present an asymptomatic Joubert syndrome patient with MRI and ophthalmic findings who was admitted to the emergency department with acute stroke
Anahtar Kelimeler
Kaynakça
- Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet 2006; 43: 334-9. [CrossRef]
- 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. [CrossRef]
- 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. [CrossRef]
- Tusa RJ, Hove MT. Ocular and oculomotor signs in Joubert syndrome. J Child Neurol 1999; 14: 621-7. [CrossRef]
- Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert’s syndrome. Neuropediatrics 1997; 28: 204-11. [CrossRef]
- 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. [CrossRef]
- McGraw P. The molar tooth sign. Radiology 2003; 229: 671–2. [CrossRef]
- Singh P, Goraya JS, Saggar K, Ahluwalia A. A report of Joubert syndrome in an infant, with literature review. J Pediatr Neurosci 2011; 6: 44-7.
- Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, et al. Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes. Am J Med Genet A 2004; 125A: 125-34. [CrossRef]
- Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010; 5: 20. [CrossRef]
Ayrıntılar
| Diğer ID | JA36NK77YH |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Haziran 2014 |
| Gönderilme Tarihi | 1 Haziran 2014 |
| Yayımlandığı Sayı | Yıl 2014 Cilt: 5 Sayı: 6 |