Home > Journals > Indian Journal of Genetics and Molecular Research

Indian Journal of Genetics and Molecular Research

Submit your article Read this Journals View all journals
Full Text (PDF)
Case Report

Sjögren–Larsson Syndrome (SLS) - A Case Report

Mona Srivastava , Jyoti Yadav1 , Jitesh Kumar Gupta2 , Jyoti Prakash Maurya3 , Mona Srivastava4

Author Information

Licence:



Indian Journal of Genetics and Molecular Research 10(2):p 51-55, JULY-DEC 2021. | DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.10221.3

How Cite This Article:

Jyoti Yadav, Jitesh Kumar Gupta, Jyoti Prakash Maurya, Mona Srivastava/Sjögren–Larsson Syndrome (SLS) - A Case Report /Indian J Genet Mol Res. 2021;10(2):51–55.

Timeline

Received : N/A         Accepted : N/A          Published : N/A

Abstract

Introduction: Sjogren Larsson syndrome (SLS) is a rare autosomal recessive inborn error of lipid metabolism. The classical triad of ichthyosis, mental retardation and spasticity characterizes clinical features. There are only 200 cases reported worldwide. Aim: To report 3 cases from the same family and the index patient having a classical presentation. Case: Eldest female and two males, who display congenital ichthyosis, whose parents have no such symptoms. Both males complained of diffuse scales all over the body with mild erythema and severe itching, since birth, no history of blisters was present. Nails, teeth, hair and sweating were normal. They had itching all over the body with accentuation over flexural areas. The youngest has neurological as well as psychiatric problems as Bipolar disorder. Discussion: Mental retardation is common, depressive episodes are a common sequlae, however clear bipolar illness is not reported. Some behavioral phenotypes of ADHD have been reported in the literature . Seizures are commonly reported, however our index patient did not have any history. Most studies on icthyosis give a similar picture as above cases.

 

References

No records found.


About this article

Cite this article

Jyoti Yadav, Jitesh Kumar Gupta, Jyoti Prakash Maurya, Mona Srivastava/Sjögren–Larsson Syndrome (SLS) - A Case Report /Indian J Genet Mol Res. 2021;10(2):51–55.

Licence:



Received Accepted Published
N/A N/A N/A
DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.10221.3

Keywords

Sjögren–Larsson Syndrome (SLS); Ichthyosis; Autosomal recessive; Erythema; Contracture.

Article Level Metrics

Last Updated

Monday 22 June 2026, 00:07:49 (IST)

941

Accesses

1
274
00

Citations


NA
NA
NA

Download citation


Article Keywords

Keyword Highlighting

Highlight selected keywords in the article text.


Timeline

Received N/A
Accepted N/A
Published N/A

licence




Access this article

Reprint Order Form
Buy this Article
Institutional Subscriptions

Share