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

• Published in: Cukurova Medical Journal Vol. 44; no. 3; pp. 598 - 600
• Main Authors: İncecik,Faruk, Yılmaz,Mustafa, Bişgin,Atıl
• Format: Journal Article
• Language: English
• Published: Çukurova Üniversitesi Tıp Fakültesi 01-01-2019
• Subjects: Tıp; Türkiye; Adana
• ISSN: 2602-3032; 2602-3040
• DOI: 10.17826/cumj.565685

Cystic fibrosis (CF) is the most common autosomal recessive disease with fatal outcome in Caucasians with a frequency of 1 in 2500 live births. It is caused by mutations in a single gene on the long arm of chromosome 7 encoding a protein called the cystic fibrosis transmembrane regulator (CFTR)1. CF is a progressive disease that involves exocrine glands, lungs, gastrointestinal system, pancreas, liver, kidneys and reproductive system. Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an another rare autosomal recessive neurological disorder characterized by macrocephaly, motor and cognitive decline, ataxia, spasticity and occasional seizures. MLC gene locus has been mapped as MLC 1 gene at chromosome 22q2. In literature, there are only a few reliable reports of concomitant diagnosis of CF and other diseases3,4, whereas, not with MLC. Here we report the case of an Turkish 15-year-old boy with CF and MLC.