Abstract
Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 68-70 |
| Number of pages | 3 |
| Journal | Journal of Pediatric Neurosciences |
| Volume | 11 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2016 |
| Externally published | Yes |
Bibliographical note
Publisher Copyright:© 2016 Journal of Pediatric Neurosciences.
Keywords
- Congenital ichthyosis
- Sjogren-Larsson syndrome
- fatty aldehyde dehydrogenase
- glistening spots in retina
- ichthyosis oligophrenia syndrome
- lipid peak
- spastic diplegia
Fingerprint
Dive into the research topics of 'Sjogren-Larsson syndrome: A rare neurocutaneous disorder'. Together they form a unique fingerprint.Cite this
- APA
- Standard
- Harvard
- Vancouver
- Author
- BIBTEX
- RIS