An interesting case of neurocutaneous syndrome

Authors

  • Shraddha K. Kedlaya Department Neurology, Thanjavur Government Medical College, Tamil Nadu, India
  • Lenin Sankar Palanisamy Department Neurology, Thanjavur Government Medical College, Tamil Nadu, India
  • Ravikumar Veeramani Department Neurology, Thanjavur Government Medical College, Tamil Nadu, India
  • M. Ramachandran Department Neurology, Thanjavur Government Medical College, Tamil Nadu, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20232656

Keywords:

Neuroichthyosis, Seizures, Genetic disease, Cognitive dysfunction, Sjogren Larsson syndrome

Abstract

Neuroichthyosis is a group of rare genetically determined disease with cutaneous and neurological manifestations due to abnormalities in any of the following: lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. There are about 16 disorders with known genetic aetiology like Sjogren Larssons syndrome (SLS), Refsum disease, Gauchers disease type 2, ELOVL4 deficiency etc. Among the various neuroicthyosis syndromes, Sjogren Larsson syndrome is the most common entity characterised by ichthyosis, spastic diplegia or tetraplegia, cognitive dysfunction, seizures, and a maculopathy with glistening white dots. We hereby report a case of neuroichthyosis disease who presented to us with developmental delay, spastic paraplegia, seizure and ichthyosis, whose genetic testing showed homozygous mutation in ALDH3A2, suggestive of Sjogren Larsson syndrome.

References

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Published

2023-08-28

How to Cite

Kedlaya, S. K., Palanisamy, L. S., Veeramani, R., & Ramachandran, M. (2023). An interesting case of neurocutaneous syndrome. International Journal of Research in Medical Sciences, 11(9), 3434–3436. https://doi.org/10.18203/2320-6012.ijrms20232656

Issue

Section

Case Reports