Coexistence of two rare genetic disorders: cystic fibrosis and megalencephalic leukoencephalopathy with subcortical cysts in a child

Yıl 2019, Cilt: 44 Sayı: Ek 1, 598 - 600, 29.12.2019

Faruk Incecik , Mustafa Yılmaz Atıl Bişgin

https://doi.org/10.17826/cumj.565685

Öz

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Nadir görülen iki genetik bozukluğun bir arada bulunması: bir çocukta kistik fibroz ve subkortikal kistleri olan megalensefalik lökoensefalopati

Öz

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Anahtar Kelimeler

Megalencephalic leukoencephalopathy with subcortical cysts, cystic fibrosis

Kaynakça

• 1. Zielinski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J & Tsui LC. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator. Genomics 1991;10:241-8.2. Singhal BS, Gorospe JR, Naidu S. Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol 2003;18:646-52.3. Greeves LG, McCarthy HL, Redmond A, Carson DJ. Coexistence of cystic fibrosis and phenylketonuria. Ulster Med J 1997;66:59-61.4. Venuta A, Bertolani P, Casarini R, Ferrari F, Guaraldi N, Garetti E. Coexistence of cystic fibrosis and celiac disease. Description of a clinical case and review of the literature. Pediatr Med Chir 1999;21:223-6.5. Guy EL, Peckham DG, Brownlee KG, Conway SP, Lee TW. Cystic fibrosis co-existing with trisomy 21. J Cyst Fibros 2010;9:330-1.6. Topcu M, Saatci I, Topcuoglu MA, Kose G, Kunak B. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 1998;20:142-53.7. Yiş U, Scheper GC, Uran N, Unalp A, Cakmakçi H, Hiz-Kurul S, et al. Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. Turk J Pediatr 2010;52:179-83. 8. Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M. Novel mutations of the MLC1 gene in Turkish patients. Eur J Med Genet 2011;54:281-3.