Sjögren Larsson syndrome: A case study with unique mutation

Abstract

Background: Sjogren–Larsson syndrome (SLS) is an autosomal recessive disorder characterized by the triad of ichthyosis, intellectual disability, and spastic quadriplegia or diplegia. Methods: Here, we report the case of a six-year-old female born to consanguineous parents who presented with an abnormal gait, described as tiptoeing, and generalized pruritis. Her symptoms began two years ago and were associated with a delay in expressive language and poor comprehension skills. Her teachers also report that she is delayed compared to her peers. She has a family history of Sjogren–Larsson syndrome (SLS) in her paternal cousin. She was referred to our center due to her presentation and an MRI finding suggestive of leukoencephalopathy. Therefore, a sequence analysis of the ALDH3A2 gene was performed via next-generation sequencing. Results: Genetic testing revealed a unique result that has not been reported yet, which is nucleotide exchange in a homozygous state at position c.844 in exon 6 of the ALDH3A2 gene (c.844A>T). Conclusions: Since this specific mutation has not been well documented in the literature, it is essential to report such cases and hence understand the general implications of such mutations to gain insights into their potential effects.

Keywords

• Diplegia
• Icthyosis
• MRI
• Sjogren-Larsson syndrome