Öz
Bir ailenin 3 çocuğunda birden görülen Friedrich ataksisi vak'ası bildirilmiştir. Vak'alardan birinde, myokardm hastalığa katıldığını belirleyen EKG bulgularının ve kulak muayenesinde, yüksek ve düşük frekanslı seslerin duyulmasında azalmanın saptanmasl, çocuklarda, Friedreich ataksisinde seyrek raslanan sistemik bulgulardandrr. Hastallžrn erkenden baflamasr, sur'at'li bir seyir takip etmesi 3 yayndaki hastada bile, tam koydurabilecek belirtilerin görülmesi, vak'alanmmn özelliklerini olusturmktadlr
Anahtar Kelimeler
Kaynakça
- 1 - Barillan A., Bensaid J, Coirault R. : Obstructive cardiomyopathy and Friedreich's disease. Arch. Ml. Ceur. 66 1525 1535, 1973.
- 2 - Barnett H.L. : Pediatrics fifteenth edition Appleton-cenkury crafts. Meredith corporation. p. 922 - 923.
- 3 - De Recondo J, Godlewski S. : Friedreich's disease-La Maladie de Friedreich. Concour8 Med. 94 : 7909 - 7935, 1972.
- 4 Dunn HG : Nerve Conduction studies in children with Friedreich's ataxia and ataxia telangiectasia. Develop Med. Child neurol. 15 : 324 - 337, 1973.
- 5 Forfar JO, Arneil GC ; Textbook of paediatrics. Churchill Livingstone comp. Edinburgh and London p. 839 - 840, 1973.
- 6 - Gabriel B ve ark : Association of myocardiopathy and degeneration of the spinocerebellar tracts (Friedreich's ataxia) : Pediatrie 29 : 367 - 377, 1974.
- 7 - Gullotta, E.R., Kallfelz H.C., and Voelpel M. : Wernicke's encephalopathy and cardiomyopathy in a boy kwith Friedreich's ataxia. Neuropadiatrie 5 : 162 - 174, 1974
- 8 - Lubzynski M.F. and Roelofs R.I : Friedreich ataxia. sth. Med. J 68 : 757 - 763, 1975.
- 9 - Michel J, Hug M, Jeandel MF : Acase of Friedreich's disease with diabetes, cardiac in., volvement and probably also peripheral arterial involvement. J. , Med. Strasbourg 6 147, 1975.
- 10 - Spoendlin H, : Optic and cochleovestibular degenerations in hereditary ataxias. Il. Temporal bone pathology in two cages of Friedreich's ataxia with vestibulocochlear disor ders, Brain 97 : 41 - 48, 1974.
- 11 Vaughan VC, McKay RJ, Nelson WE : Nelson textbook of pediatrics Sunders Company 1975 p. 1436 - 1437.
Öz
All of the three children of a family ha-ve Friedreich ataxa.
The oldest child has the findings of myocarditis in ECG. She also has some hearing defects, such as decreased the hearing of low and high freguency sounds. These are rare systemic manifestations of Friedreich ataxia in children.
The early onset and the rapid progression and even the presence of typical diagx)stic findings of the disease in a 3 year old child are the characteristics of our cases.
Anahtar Kelimeler
Kaynakça
- 1 - Barillan A., Bensaid J, Coirault R. : Obstructive cardiomyopathy and Friedreich's disease. Arch. Ml. Ceur. 66 1525 1535, 1973.
- 2 - Barnett H.L. : Pediatrics fifteenth edition Appleton-cenkury crafts. Meredith corporation. p. 922 - 923.
- 3 - De Recondo J, Godlewski S. : Friedreich's disease-La Maladie de Friedreich. Concour8 Med. 94 : 7909 - 7935, 1972.
- 4 Dunn HG : Nerve Conduction studies in children with Friedreich's ataxia and ataxia telangiectasia. Develop Med. Child neurol. 15 : 324 - 337, 1973.
- 5 Forfar JO, Arneil GC ; Textbook of paediatrics. Churchill Livingstone comp. Edinburgh and London p. 839 - 840, 1973.
- 6 - Gabriel B ve ark : Association of myocardiopathy and degeneration of the spinocerebellar tracts (Friedreich's ataxia) : Pediatrie 29 : 367 - 377, 1974.
- 7 - Gullotta, E.R., Kallfelz H.C., and Voelpel M. : Wernicke's encephalopathy and cardiomyopathy in a boy kwith Friedreich's ataxia. Neuropadiatrie 5 : 162 - 174, 1974
- 8 - Lubzynski M.F. and Roelofs R.I : Friedreich ataxia. sth. Med. J 68 : 757 - 763, 1975.
- 9 - Michel J, Hug M, Jeandel MF : Acase of Friedreich's disease with diabetes, cardiac in., volvement and probably also peripheral arterial involvement. J. , Med. Strasbourg 6 147, 1975.
- 10 - Spoendlin H, : Optic and cochleovestibular degenerations in hereditary ataxias. Il. Temporal bone pathology in two cages of Friedreich's ataxia with vestibulocochlear disor ders, Brain 97 : 41 - 48, 1974.
- 11 Vaughan VC, McKay RJ, Nelson WE : Nelson textbook of pediatrics Sunders Company 1975 p. 1436 - 1437.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Üroloji |
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Temmuz 1980 |
| Yayımlandığı Sayı | Yıl 1980 Cilt: 33 Sayı: 1 |