Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey
- 210 Downloads
Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre. This rate is significantly higher than the rate reported in the literature (<1%). Three of the patients had novel mutations, one of them was a collodion baby and the other one was mistyped as type III due to its atypical presentation at the beginning and he was treated with ERT for 8 months. In this report, we present our type II Gaucher patients with three novel mutations and one perinatal lethal form with generalized ichthyosis which is a very rare disorder. Additionally, we would like to highlight the phenotypic heterogeneity not only between the subtypes, also even in the same type.
KeywordsGaucher disease type II GBA gene Ichthyosis Dystonia Collodion baby
• Details of the contributions of individual authors
Conception and design of the article: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, Ö. Hergüner, S. Kılavuz, N. Önenli-Mungan
Draft of the article: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, Ö. Hergüner, N. Önenli-Mungan
Definition of intellectual content: F.D. Bulut, D. Kör, N. Önenli-Mungan
Literature search: F.D. Bulut, B. Şeker-Yılmaz, S. Kılavuz, N. Önenli-Mungan
Data acquisition: F.D. Bulut, B. Şeker-Yılmaz, S. Ceylaner, F. Özkınay, S. Kılavuz
Data analysis: F.D. Bulut, S. Ceylaner, F. Özkınay, S. Kılavuz
Manuscript preparation: F.D. Bulut, D. Kör, B. Şeker-Yılmaz, S. Ceylaner, F. Özkınay, N. Önenli-Mungan
Manuscript editing: F.D. Bulut, D. Kör, S. Ceylaner, F. Özkınay, N. Önenli-Mungan
Manuscript review: F.D. Bulut, B. Şeker-Yılmaz, Ö. Hergüner, N. Önenli-Mungan
Guarantor: F.D. Bulut
Compliance with ethical standards
Conflicts of interest
There are no conflicts of interest.
Ethical committee approval is not required for retrospective clinical studies.
Patient consent statements were obtained from all of the patients’ legal guardians, also for usage of patient pictures.
Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.
- Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L (2005) Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. Blood Cells Mol Dis 35(2):253–258CrossRefPubMedGoogle Scholar
- Oberling C, Woringer P (1927) La maladie de Gaucher chez la nourisson. Rev Fr Pediatr 3:475–532Google Scholar