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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2018; 76(04): 283
DOI: 10.1590/0004-282X20180024
Images in Neurology

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome

Características clínicas e neurorradiológicas típicas na síndrome de Sjögren-Larsson
Anderson Rodrigues Brandão de Paiva
1   Universidade de São Paulo, Hospital das Clínicas, Departamento de Neurologia, São Paulo SP, Brasil
,
Uirá Souto Melo
2   Universidade de São Paulo, Centro de Estudos do Genoma Humano, São Paulo SP, Brasil
,
Fernando Freua
1   Universidade de São Paulo, Hospital das Clínicas, Departamento de Neurologia, São Paulo SP, Brasil
,
Denise Dória
1   Universidade de São Paulo, Hospital das Clínicas, Departamento de Neurologia, São Paulo SP, Brasil
,
Katiane Sayão Souza Cabral
1   Universidade de São Paulo, Hospital das Clínicas, Departamento de Neurologia, São Paulo SP, Brasil
,
Lúcia Inês Macedo-Souza
2   Universidade de São Paulo, Centro de Estudos do Genoma Humano, São Paulo SP, Brasil
,
Leandro Tavares Lucato
3   Universidade de São Paulo, Hospital das Clínicas, Instituto de Radiologia, São Paulo SP, Brasil
,
Fernando Kok
1   Universidade de São Paulo, Hospital das Clínicas, Departamento de Neurologia, São Paulo SP, Brasil
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Sjögren-Larsson syndrome is an autosomal recessive disorder characterized by ichthyosis, intellectual disability, spastic paraplegia, macular dystrophy, and leukoencephalopathy. It is caused by mutations in ALDH3A2, which leads to accumulation of long chain fatty alcohols. Herein we report on a 28-year-old man with congenital ichthyosis ([Figure A]) and profound intellectual disability, who is severely spastic and had undergone several orthopedic procedures for correction of deformities. Brain MRI disclosed leukoencephalopathy and cortical atrophy ([Figure B]), while MR spectroscopy allowed identification of peaks assigned to lipids ([Figure C]). Sequencing of ALDH3A2 revealed he is a compound heterozygote for two previously reported splice site mutations: maternally inherited c.798+5G>A, and paternally transmitted c.1108-1G>C. Treatment of Sjögren-Larsson syndrome is symptomatic.[1],[2],[3]

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Figure A. Congenital ichthyosis. B. MRI: axial FLAIR image demonstrates diffuse leukoencephalopathy. C. MR spectroscopy, single voxel, echo time = 30 ms, region of interest placed in the parieto-occipital white matter, discloses peaks assigned to lipids in 0.8-0.9 ppm and in 1.3 ppm (arrows), which can be appreciated in the disease. The NAA peak is decreased (signaling neuroaxonal loss or dysfunction) and the mI peak is increased (probably related to gliosis). NAA: N-acetyl aspartate; Cr: creatine; Cho: choline; mI: myo-inositol.


Publikationsverlauf

Eingereicht: 03. Januar 2018

Angenommen: 28. Januar 2018

Artikel online veröffentlicht:
28. August 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

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