Neuro-ichthyotic Syndromes: A Case Series


İNCECİK F. , HERGUNER O. M. , OZBEK M. N. , GÜNGÖR S., YILMAZ M. , RIZZO W. B. , ...More

JOURNAL OF PEDIATRIC NEUROSCIENCES, vol.13, no.1, pp.34-38, 2018 (Journal Indexed in ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.4103/jpn.jpn_54_17
  • Title of Journal : JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Page Numbers: pp.34-38

Abstract

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 Sjogren-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.