Do you know this syndrome? Sjogren-Larsson syndrome.

We report a typical case of Sjogren-Larsson syndrome in a male patient, aged 20. The Sjogren-Larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by congenital ichthyosis, spastic paraplegia and mental retardation. It is caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. It has no cure, but most patients survive up to an adult age. Treatment should be multidisciplinary and dermatological therapy aims at relieving the persistent itching and ichthyosis.

MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy ((1)H-MRS) reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and (1)H-MRS findings are discussed.

Texture analysis of the epidermis based on fast Fourier transformation in Sjögren-Larsson syndrome.

OBJECTIVE: To investigate whether image analysis of routine hematoxylin-eosin (H-E) skin sections using fast Fourier transformation (FFT) could detect structural alterations in patients with Sjögren-Larsson syndrome (SLS) diagnosed by molecular biology. STUDY DESIGN: Skin punch biopsies of 9 patients with SLS and 17 healthy volunteers were obtained. Digital images of routine histologic sections were taken, and their gray scale luminance was analyzed by FFT. The inertia values were determined for different ranges of the spatial frequencies in the vertical and horizontal direction. To get an estimation of anisotropy, we calculated the resultant vector of the designated frequency ranges. RESULTS: In the prickle cell layer, SLS patients showed more intense amplitudes in spatial structures with periods between 1.2 and 3.6 microm in the vertical direction, which correlated in part with accentuated nuclei and nucleoli and perinucleolar halos in the H-E sections. In a linear discriminant analysis, the variables derived from the FFT images correctly discriminated 84.6% of the patients. Texture features derived from the gray level cooccurrence matrix were not able to separate the groups. CONCLUSION: Exploratory texture analysis by FFT was able to detect discrete alterations in the prickle cell layer in routine light microscopy slides of SLS patients. The structural changes identified by FFT may be related to abnormal cellular components associated with aberrant lipid metabolism.

MRI and ¹H-MRS findings of three patients with Sjõgren-Larsson syndrome

A síndrome de Sjögren-Larsson (SJL) é distúrbio raro, autossômico recessivo, caracterizado pela tríade clássica de ictiose congênita, retardo mental e tetraplegia ou diplegia espástica. Trata-se de um erro inato do metabolismo dos lipídios, causado pela deficiência da enzima microssômica aldeído graxo desidrogenase. Os achados de imagem do encéfalo na SJL demonstram atrofia cerebral e alteração da substância branca. A espectroscopia de prótons, com poucos casos relatados, caracteriza-se pelo elevado pico de lipídios e redução de N-acetil-aspartato. Apresentamos três casos de SJL, com ênfase nos achados da ressonância magnética e da espectroscopia de prótons.