Case Report
Year 2020,
Volume: 7 Issue: 2, 247 - 250, 30.06.2020
Abstract
36. gestasyon haftasında
erken membran rüptürü nedeniyle doğan
erkek bebek, doğum sonrası 1. dakika APGAR ‘ı 8, 5. dakika APGAR ‘ı 9 olarak kaydedildi. Anne yanı izlemlerinde
beslenirken siyanozu olması nedeniyle postnatal 19. saatinde yenidoğan yoğun bakım
ünitesine alındı.Hastanın solunum sesleri dinlemekle her iki hemitoraksta doğal olmasına rağmen inter kostal ve subkostal çekilmeleri mevcuttu.Non-invaziv ventilasyon desteği altında dirençli apnelerinin olması üzerine entübe
edilerek mekanik ventilatöre bağlandı.
Kranyal MR’sinde; disorganize, disgenetik, split serebellar vermis; kalın superior serebellar pedinkül ve küçük inferior serebellar pedinküllerden oluşan ‘molar diş’ görünümü izlendi.Kliniğimizde takipte olduğu süre içerisinde hiperpne-apne atakları belirli
aralarla tekrarlayan ve iki kez klonik konvülsiyonu gözlenen hastaya 5 mg/kg/gün fenobarbital tedavisi uygulandı. Bu bulgular ışığında klinik tablosu ve kranial MR
değerlendirmesiyle bebeğe Joubert Sendromu tanısı konuldu. Yenidoğan yoğunbakım ünitesinde genel
durumunu bozmayan hiperpne-apne periyotları ara ara devam etti. 28 günlük takip ve tedavi sonunda anne uyumu tamamlanan bebek çocuk nöroloji takipleri yapılmak üzere önerilerle taburcu
edildi.
Keywords
References
- 1. Barreirinho, M,S, Texeira, J, Moeira, N,C, CalcadaBastos, S, Goncalvaz, S, Barbot, M,C, JoubertSyndrome report of 12 cases. RevNeurol, 2001, 32(9), 812-817, 2. Bozaykut, A, Atay, E, Özdü, İ,İ, Atay, Z, Uygur, N, Gülsever, N, Joubert sendromlu bir yenidoğan. Göztepe Tıp Dergisi, 2002, 17, 245-2463. Paksu, M,Ş, Dağdemir, A, Taşdemir, H,A, Güngör, O, Küçüködük, Ş, İncesu, L, Jubert sendromu; olgu sunumu. OMÜ Tıp Dergisi, 2004, 21(2), 90-93.4. Aslan, H, Ulker, V, Gulcan, E,M, Numanoglu, C, Gul, A, Agar, M, Ark, H,C, Prenatal diagnosis of Joubert syndrome: a casereport. PrenatDiagn, 2002, 22, 13–16.5. Maria, B,L, Boltshauser, E, Palmer, S,C, Tran, T,X, Clinical features and revised diagnostic criteria in Joubert Syndrome. J Child Neurolog, 1999, 14(9), 583-590. 6. Maria, B,L, Quisling, R,G, Rosainz, L,C, Yachnis, A,T, Gitten, J, Dede, D, Molartoothsign in Joubert syndrome clinical, radiologic,and pathologic significance. J Child Neurolog, 1999, 14(6), 368-76.7. Ferland, R,J, Eyaid, W, Collura, R,V, Tully, L,D, Hill, R,S, Al-Nouri, D, et al. Abnormal cerebellar development and axonal decussation due to mutation in AHI1 in Joubert syndrome. Nat Genet, 2004, 36, 1008-1013.8. Andermann, F, Andermann, E, Ptito, A, Fontaine, S, Joubert, M, History of Joubertsyndromeand a 30-year follow up of the original proband. J Child Neurolog, 1999, 14(9), 565-9, 9. Akcakus, M, Gunes, T, Kumandas, S, Kurtoglu, S, Coskun, A. Joubert syndrome: Report of a neonatal case. Paediatr Child Health, 2003, 8(8), 499–502.10. Parisi, M,A, Doherty, D, Chance, P,F, Glass, I,A, Joubert syndrome (and related disorders). Eur J Hum Genet, 2007, 15(5), 511-521.11. Joubert, M, Eisenring, J,J, Robb, J,P, Andermann, F. Familial agenesis of the vermis: a syndrome of episodic hyperpnoea, abnormal eye movements, ataxia, and retardation. Neurology, 1969, 19(5), 813–825. 12. Brancati, F, Dallapiccola, B, Valente, E,M, Joubert syndrome and related disorders. Orphanet J Rare Dis, 2010, 5, 20. 13. Khan, A,O, Oystreck, D,T, Seidahmed, M,Z, AlDrees, A, Elmalik, S,A, Alorainy, I,A, Salih, M,A, Ophthalmic features of Joubert syndrome. Ophthalmology, 2008, 115, 2286-2289. 14. Gregory-Evans, C,Y, Williams, M,J, Halford, S, Gregory-Evans, K, Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet, 2004, 41, 881-891. 15. Chodirker, B,N, Shah, N,S, Bunge, M,K, Reed, M,H, Another case of Varadi-Papp Syndrome with a molar tooth sign. Am J Med Genet A, 2005, 136, 416-417. 16. Salomon, R, Saunier, S, Niaudet, P, Nephronophthisis. Pediatr Nephrol, 2009, 24, 2333-2344. 17. Desmet, V,J, Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology, 1992, 16, 1069-1083. 18. Chance, P,F, Cavalier, L, Satran, D, Pellegrino, J,E, Koenig, M, Dobyns, W,B, Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol, 1999, 14: 660-666. 19. Pellegrino, J,E, Lensch, M,W, Muenke, M, Chance, P,F, Clinical and molecular analysis in Joubert syndrome. Am J Med Genet, 1997, 72, 59-62. 20. Lubna, H. Dekair, MBBS, Hussein Kamel, FRCR, Haitham, O, El-Bashir, Joubert syndrome labeled as hypotonic cerebral palsy. Neurosciences (Riyadh) 2014, 19(3), 233–235.21. Rehman, Iu, Bett, Z, Husen, Y, Akhtar, AS, Khan, F,A, The 'molar tooth sign' in Joubert syndrome. J Pak Med Assoc, 2009, 59(12), 851-3.22. Haifa, ABD, Abdul-Hakeem, MBM, Zain, H,A, Joubert syndrome in a neonate: case report with literature review. Sudan J Paediatr, 2016, 16(1), 53–57.23. Gunzler, S,A, Stoessl, A,J, Egan, R,A, Weleber, R,G, Wang, P, Nutt, J,G, Joubert syndrome surviving to adulthood associated with a progressive movement disorder. Mov Disord, 2007, 22, 262–265. 24. Atsumi, M, Takeda, T, Misaki, Y, Ogata, H, [Joubert syndrome diagnosed based on sleep disordered breathing in 25-year-old man--case report]. Brain Nerve, 2008, 60, 195–198. 25. Barzilai, M, Ish-Shalom, N, Lerner, A, Iancu, T,C, Imaging findings in COACH syndrome. AJR Am J Roentgenol, 1998, 170, 1081-1082.26. Van Beek, E,J, Majoie, C,B, Joubert syndrome. Radiology, 2000, 216, 379-382.
Year 2020,
Volume: 7 Issue: 2, 247 - 250, 30.06.2020
Abstract
References
- 1. Barreirinho, M,S, Texeira, J, Moeira, N,C, CalcadaBastos, S, Goncalvaz, S, Barbot, M,C, JoubertSyndrome report of 12 cases. RevNeurol, 2001, 32(9), 812-817, 2. Bozaykut, A, Atay, E, Özdü, İ,İ, Atay, Z, Uygur, N, Gülsever, N, Joubert sendromlu bir yenidoğan. Göztepe Tıp Dergisi, 2002, 17, 245-2463. Paksu, M,Ş, Dağdemir, A, Taşdemir, H,A, Güngör, O, Küçüködük, Ş, İncesu, L, Jubert sendromu; olgu sunumu. OMÜ Tıp Dergisi, 2004, 21(2), 90-93.4. Aslan, H, Ulker, V, Gulcan, E,M, Numanoglu, C, Gul, A, Agar, M, Ark, H,C, Prenatal diagnosis of Joubert syndrome: a casereport. PrenatDiagn, 2002, 22, 13–16.5. Maria, B,L, Boltshauser, E, Palmer, S,C, Tran, T,X, Clinical features and revised diagnostic criteria in Joubert Syndrome. J Child Neurolog, 1999, 14(9), 583-590. 6. Maria, B,L, Quisling, R,G, Rosainz, L,C, Yachnis, A,T, Gitten, J, Dede, D, Molartoothsign in Joubert syndrome clinical, radiologic,and pathologic significance. J Child Neurolog, 1999, 14(6), 368-76.7. Ferland, R,J, Eyaid, W, Collura, R,V, Tully, L,D, Hill, R,S, Al-Nouri, D, et al. Abnormal cerebellar development and axonal decussation due to mutation in AHI1 in Joubert syndrome. Nat Genet, 2004, 36, 1008-1013.8. Andermann, F, Andermann, E, Ptito, A, Fontaine, S, Joubert, M, History of Joubertsyndromeand a 30-year follow up of the original proband. J Child Neurolog, 1999, 14(9), 565-9, 9. Akcakus, M, Gunes, T, Kumandas, S, Kurtoglu, S, Coskun, A. Joubert syndrome: Report of a neonatal case. Paediatr Child Health, 2003, 8(8), 499–502.10. Parisi, M,A, Doherty, D, Chance, P,F, Glass, I,A, Joubert syndrome (and related disorders). Eur J Hum Genet, 2007, 15(5), 511-521.11. Joubert, M, Eisenring, J,J, Robb, J,P, Andermann, F. Familial agenesis of the vermis: a syndrome of episodic hyperpnoea, abnormal eye movements, ataxia, and retardation. Neurology, 1969, 19(5), 813–825. 12. Brancati, F, Dallapiccola, B, Valente, E,M, Joubert syndrome and related disorders. Orphanet J Rare Dis, 2010, 5, 20. 13. Khan, A,O, Oystreck, D,T, Seidahmed, M,Z, AlDrees, A, Elmalik, S,A, Alorainy, I,A, Salih, M,A, Ophthalmic features of Joubert syndrome. Ophthalmology, 2008, 115, 2286-2289. 14. Gregory-Evans, C,Y, Williams, M,J, Halford, S, Gregory-Evans, K, Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet, 2004, 41, 881-891. 15. Chodirker, B,N, Shah, N,S, Bunge, M,K, Reed, M,H, Another case of Varadi-Papp Syndrome with a molar tooth sign. Am J Med Genet A, 2005, 136, 416-417. 16. Salomon, R, Saunier, S, Niaudet, P, Nephronophthisis. Pediatr Nephrol, 2009, 24, 2333-2344. 17. Desmet, V,J, Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology, 1992, 16, 1069-1083. 18. Chance, P,F, Cavalier, L, Satran, D, Pellegrino, J,E, Koenig, M, Dobyns, W,B, Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol, 1999, 14: 660-666. 19. Pellegrino, J,E, Lensch, M,W, Muenke, M, Chance, P,F, Clinical and molecular analysis in Joubert syndrome. Am J Med Genet, 1997, 72, 59-62. 20. Lubna, H. Dekair, MBBS, Hussein Kamel, FRCR, Haitham, O, El-Bashir, Joubert syndrome labeled as hypotonic cerebral palsy. Neurosciences (Riyadh) 2014, 19(3), 233–235.21. Rehman, Iu, Bett, Z, Husen, Y, Akhtar, AS, Khan, F,A, The 'molar tooth sign' in Joubert syndrome. J Pak Med Assoc, 2009, 59(12), 851-3.22. Haifa, ABD, Abdul-Hakeem, MBM, Zain, H,A, Joubert syndrome in a neonate: case report with literature review. Sudan J Paediatr, 2016, 16(1), 53–57.23. Gunzler, S,A, Stoessl, A,J, Egan, R,A, Weleber, R,G, Wang, P, Nutt, J,G, Joubert syndrome surviving to adulthood associated with a progressive movement disorder. Mov Disord, 2007, 22, 262–265. 24. Atsumi, M, Takeda, T, Misaki, Y, Ogata, H, [Joubert syndrome diagnosed based on sleep disordered breathing in 25-year-old man--case report]. Brain Nerve, 2008, 60, 195–198. 25. Barzilai, M, Ish-Shalom, N, Lerner, A, Iancu, T,C, Imaging findings in COACH syndrome. AJR Am J Roentgenol, 1998, 170, 1081-1082.26. Van Beek, E,J, Majoie, C,B, Joubert syndrome. Radiology, 2000, 216, 379-382.
There are 1 citations in total.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Olgu Sunumu |
| Authors | |
| Publication Date | June 30, 2020 |
| Published in Issue | Year 2020 Volume: 7 Issue: 2 |
