| Autor: |
Faruk, Incecık, Ozlem M, Herguner, Mehmet N, Ozbek, Serdal, Gungor, Mustafa, Yılmaz, Wiliam B, Rizzo, Gülen G, Mert |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
Journal of Pediatric Neurosciences |
| ISSN: |
1817-1745 |
| Popis: |
Background: The neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was to evaluate the clinical and neuroradiological findings and to analyze mutation in 15 patients with neuro-ichthyotic diseases. Materials and Methods: We retrospectively analyzed the records of 15 patients with the diagnosis of neuro-ichthyotic diseases. Results: Eight female and seven male patients (age range 11 months–52 years) were investigated. There were eight patients with Sjögren–Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin–Dorfman's syndrome, and one patient with mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome. Parental consanguinity was found in all the patients except one. All patients had ichthyosis. Diagnosis was performed with genetic study. Conclusions: Because biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Detailed skin and physical examinations are mandatory in these patients. Genetic tests are necessary for accurate diagnosis. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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