Öz
Joubert Sendromu JS beyin sapı ve serebellar malformasyonlarla karakterize santral sinir sisteminin nadir gelişimsel bir bozuk- luğudur. Göz örneğin, retinal displazi gibi , okulomotor, kas-iskelet ve böbrek örneğin, kistik displazi, nefronofitizis gibi diğer sistemik bozukluklarla ilişkili olabilir. Biz burada distal renal tübüler asidozis ile birlikte olan JS bir olguyu bildiğimiz kadarı ile tıp literatüründe ilk olması nedeni ile sunduk
Anahtar Kelimeler
Kaynakça
- Malaki M, Nemati M, Shoaran M. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi J Kidney Dis Transpl 2012;23:325-9.
- Iskender CT, Tarim E, Alkan O. Joubert syndrome and related di- sorders, prenatal diagnosis with ultrasound and magnetic resonan- ce imaging. J Turk Ger Gynecol Assoc 2012;13:135-8.
- Ahmed J, Ali US. Joubert syndrome with nephronophthisis in neurofibromatosis type 1. Saudi J Kidney Dis Transpl 2011;22:788- 91.
- Maria BL, Hoang KB, Tusa RJ, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlati- on. J Child Neurol 1997;12:423-30.
- Gill H, Muthusamy B, Atan D, Williams C, Ellis M. Joubert syndro- me presenting with motor delay and oculomotor apraxia. Case Rep Pediatr 2011;2011:262641.
- Elhassanien AF, Alghaiaty HA. Joubert syndrome: Clinical and ra- diological characteristics of nine patients. Ann Indian Acad Neurol 2013;16:239-44.
- 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.
- Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992;43:726-31.
Öz
Joubert syndrome JS is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar mal- formations, hypotonia, episodic hyperapnea and apnea and mental retardation. It may be related other systemic abnormalities like ocular e.g, retinal dysplasia, etc. , oculomotor, musculoskeletal and renal e.g., cystic dysplasia, nephronophthisis with renal failure. We describe a case of JS with distal renal tubular acidosis, a relation that has never been described earlier in the medical literature to the best of our knowledge
Anahtar Kelimeler
Kaynakça
- Malaki M, Nemati M, Shoaran M. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi J Kidney Dis Transpl 2012;23:325-9.
- Iskender CT, Tarim E, Alkan O. Joubert syndrome and related di- sorders, prenatal diagnosis with ultrasound and magnetic resonan- ce imaging. J Turk Ger Gynecol Assoc 2012;13:135-8.
- Ahmed J, Ali US. Joubert syndrome with nephronophthisis in neurofibromatosis type 1. Saudi J Kidney Dis Transpl 2011;22:788- 91.
- Maria BL, Hoang KB, Tusa RJ, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlati- on. J Child Neurol 1997;12:423-30.
- Gill H, Muthusamy B, Atan D, Williams C, Ellis M. Joubert syndro- me presenting with motor delay and oculomotor apraxia. Case Rep Pediatr 2011;2011:262641.
- Elhassanien AF, Alghaiaty HA. Joubert syndrome: Clinical and ra- diological characteristics of nine patients. Ann Indian Acad Neurol 2013;16:239-44.
- 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.
- Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992;43:726-31.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Haziran 2015 |
| Yayımlandığı Sayı | Yıl 2015 Cilt: 25 Sayı: 2 |
Genel Tıp Dergisi Creative Commons Atıf-GayriTicari 4.0 Uluslararası Lisansı (CC BY NC) ile lisanslanmıştır.