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Case Reports
. 2017:2017:7981750.
doi: 10.1155/2017/7981750. Epub 2017 Oct 18.

Atypical Presentation of Sjögren-Larsson Syndrome

D Papathemeli  1 , A Mataftsi  2 , A Patsatsi  1 , D Sotiriadis  1 , M Samouilidou  2 , S Chondromatidou  3 , A Evangeliou  4
Affiliations
Case Reports

Atypical Presentation of Sjögren-Larsson Syndrome

D Papathemeli et al. Case Rep Pediatr. 2017.

Abstract

Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.

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Figures

Figure 1
Figure 1
The patient presented with thickening and hyperpigmentation of both axillae.
Figure 2
Figure 2
Brown scaly hyperpigmentation could also be seen on the nape of the neck.
Figure 3
Figure 3
Palmoplantar keratoderma was also present.
Figure 4
Figure 4
The deep white matter of the centrum semiovale bilateral demonstrates high signal intensity changes at Flair axial MR imaging.
Figure 5
Figure 5
Flair axial MR image of the brain showing high-intensity lesions in the deep white matter of the frontal lobes and milder-intensity lesions in the deep white matter of the posterior parietal lobes and the corpus callosum.
Figure 6
Figure 6
Magnetic resonance spectroscopy (MRS) showed moderate increase of lipid and myoinositol levels. Other metabolites like N-acetyl aspartate (NAA), choline (Cho), and creatine (Cr) were within normal limits.
See this image and copyright information in PMC

References

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