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

Abstract

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.

• Authors: Mauro Nakayama, Daniel G F Távora, Thereza C L Alvim, Alexandre C B Araújo, Rômulo L Gama
• Journal: Arquivos de neuro-psiquiatria (Arq Neuropsiquiatr) Vol. 64 Issue 2B Pg. 398-401 (Jun 2006) ISSN: 0004-282X [Print] Germany
• PMID: 16917608 (Publication Type: Case Reports, Journal Article)

Chemical References

• Aspartic Acid
• N-acetylaspartate

Topics

• Adolescent
• Aspartic Acid (analogs & derivatives, metabolism)
• Brain (metabolism, pathology)
• Child
• Child, Preschool
• Female
• Humans
• Lipid Metabolism
• Magnetic Resonance Imaging
• Magnetic Resonance Spectroscopy
• Male
• Sjogren-Larsson Syndrome (pathology)