Sjogren-Larsson syndrome: A rare neurocutaneous disorder

Velusamy Subramanian; Praveen Hariharan; J. Balaji

doi:10.4103/1817-1745.181267

Sjogren-Larsson syndrome: A rare neurocutaneous disorder

Velusamy Subramanian, Praveen Hariharan, J. Balaji

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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	https://doi.org/10.4103/1817-1745.181267
State	Published - Jan 1 2016
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2016 Journal of Pediatric Neurosciences.

Keywords

Congenital ichthyosis
fatty aldehyde dehydrogenase
glistening spots in retina
ichthyosis oligophrenia syndrome
lipid peak
Sjogren-Larsson syndrome
spastic diplegia

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10.4103/1817-1745.181267

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AU - Subramanian, Velusamy

AU - Hariharan, Praveen

AU - Balaji, J.

PY - 2016/1/1

Y1 - 2016/1/1

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AB - 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.

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KW - fatty aldehyde dehydrogenase

KW - glistening spots in retina

KW - ichthyosis oligophrenia syndrome

KW - lipid peak

KW - Sjogren-Larsson syndrome

KW - spastic diplegia

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Sjogren-Larsson syndrome: A rare neurocutaneous disorder

Abstract

Bibliographical note

Keywords

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