Sjögren–Larsson Syndrome: A Case Report of a Rare Neuro-cutaneous Disorder

  • Manish Pradhan Nobel Medical College Teaching Hospital, Biratnagar, Nepal http://orcid.org/0000-0001-6817-4160
  • Arun Giri Nobel Medical College Teaching Hospital, Biratnagar, Nepal
  • Dipa Rai Nobel Medical College Teaching Hospital, Biratnagar, Nepal
  • Rajeev Yadav Nobel Medical College Teaching Hospital, Biratnagar, Nepal
Keywords: Ichthyosis, Mental retardation, Spastic diplegia

Abstract

Sjögren–Larsson syndrome is a rare autosomal recessive neuro-cutaneous disease. The dominant features are congenital ichthyotic hyperkeratosis, spastic diplegia and mild to moderate mental retardation. The cause of this syndrome is the deficiency of microsomal fatty aldehyde dehydrogenase. The deficiency of this enzyme results in the accumulation of fatty aldehydes and fatty alcohols in various tissues including skin. Here, we report a case presented with ichthyosis, bilateral lower limb spasticity, and mental retardation, diagnosed as Sjögren–Larsson syndrome.

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Author Biographies

Manish Pradhan, Nobel Medical College Teaching Hospital, Biratnagar, Nepal

Department of Dermatology, Venereology and Leprosy

Arun Giri, Nobel Medical College Teaching Hospital, Biratnagar, Nepal

Department of Pediatrics

Dipa Rai, Nobel Medical College Teaching Hospital, Biratnagar, Nepal

Department of Dermatology, Venereology and Leprosy

Rajeev Yadav, Nobel Medical College Teaching Hospital, Biratnagar, Nepal

Department of Dermatology, Venereology and Leprosy

Published
2019-12-26
How to Cite
Pradhan, M., Giri, A., Rai, D., & Yadav, R. (2019). Sjögren–Larsson Syndrome: A Case Report of a Rare Neuro-cutaneous Disorder. Nepalese Medical Journal, 2(2), 268-269. https://doi.org/10.3126/nmj.v2i2.26866
Section
Case Reports