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. 2018 Jan-Mar;13(1):34-38.
doi: 10.4103/JPN.JPN_54_17.

Neuro-ichthyotic Syndromes: A Case Series

Faruk Incecık  1 , Ozlem M Herguner  1 , Mehmet N Ozbek  2 , Serdal Gungor  3 , Mustafa Yılmaz  4 , Wiliam B Rizzo  5 , Gülen G Mert  1
Affiliations

Neuro-ichthyotic Syndromes: A Case Series

Faruk Incecık et al. J Pediatr Neurosci. 2018 Jan-Mar.

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 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.

Keywords: Genetic study; neuro-ichthyotic diseases; skin and physical examination.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Ichthyosis and hyperkeratosis in patient with SLS
Figure 2
Figure 2
Cerebral magnetic resonance imaging showed hyperintense lesions in the periventricular white matter in patient with MSD
See this image and copyright information in PMC

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