A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.

ABSTRACT:

Background

Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing mutations in 13 genes are known.

Case presentation

We report clinical and genetic characteristics of a 5-year-old girl affected by ceroid lipofuscinosis type 7 (NCL7). She had progressive motor and mental deterioration since the age of 2,5 years. Later she developed progressive vision loss, stereotypies, action myoclonus and epilepsy. By the age of 5 years she stopped walking. Based on symptoms, diagnosis of Rett syndrome was suggested, but no abnormalities were detected in MeCP2. We iden

SUBMITTER: Kozina AA 

PROVIDER: S-EPMC6109285 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature