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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227

Arq. Neuro-Psiquiatr. vol.76 no.4 São Paulo Apr. 2018

http://dx.doi.org/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 Paiva1 

Uirá Souto Melo2 

Fernando Freua1 

Denise Dória1 

Katiane Sayão Souza Cabral1 

Lúcia Inês Macedo-Souza2 

Leandro Tavares Lucato3 

Fernando Kok1 

1Universidade de São Paulo, Hospital das Clínicas, Departamento de Neurologia, São Paulo SP, Brasil

2Universidade de São Paulo, Centro de Estudos do Genoma Humano, São Paulo SP, Brasil

3Universidade de São Paulo, Hospital das Clínicas, Instituto de Radiologia, São Paulo SP, Brasil


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

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. 

References

1. Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A. et al. Phenotypic variability among adult siblings with Sjogren-Larsson syndrome. Arch Neurol. 2006;63(2):278-80. https://doi.org/10.1001/archneur.63.2.278Links ]

2. Willemsen MAAP, Graaf M, Knaap MS, Heerschap A, Domburg PHMF, Gabreels FJM et al. MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy. AJNR Am. J. Neuroradiol. 2004;25(4):649-57. [ Links ]

3. Rizzo W, Carney G, Lin Z. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet. 1999;65(6):1547-60. https://doi.org/10.1086/302681Links ]

Received: January 03, 2018; Revised: January 26, 2018; Accepted: January 28, 2018

Correspondence: Anderson Rodrigues Brandão de Paiva; Rua Waldemar Falcão, 1547 / ap 1602A; 40295-010 Salvador BA, Brasil; E-mail: arbrandao@oi.com.br

Conflict of interest: There is no conflict of interest to declare.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.