Sjögren–Larsson syndrome

Abstract

The neurologic consequences of FALDH deficiency show considerable variation. The characteristic pattern of ichthyosis and retinal degeneration are seen consistently, yet they are not pathognomonic. MRI and 1H MRS findings suggest an accumulation of long-chain fatty alcohol intermediates, resulting in retarded myelination and dysmyelination.

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

“…However, it must be stressed that we did not compare these results with a control group. 1 H-MRS findings of the patient 2 revealed a high lipid peak, although only minimal signal abnormality was found in the periventricular white matter. We speculate that 1 H-MRS may demonstrate an accumulation of free lipids in the white matter even before an abnormality become detectable by morphological MRI.…”

“…Miyanomae et al 7 described a SLS case whose MRI showed high signal on T2-weighted and low signal on T1-weighted images at the peritrigonal are a s . 1 H-MRS of those lesions revealed increased lipid peak. They speculated that such lipids in the periventricular regions with high T2 signal might be pathognomonic of SLS.…”

“…However, t h e re are only a few re p o rts on brain proton magnetic resonance spectroscopy ( 1 H-MRS), with typical findings of abnormal high peak in spectral curve, between 0.8 and 1.6 ppm, corresponding to the range of lipids. It is also re p o rted a nonspecific diminished peak of N-Acetyl Aspartate (NAA) at the periventricular white matter 1,2,7 .…”

Sjögren‐Larsson syndrome

“…13,15,16 Enzymatic confirmation of the diagnosis is important because only about half of the patients with cutaneous and neurological symptoms resembling the Sjögren-Larsson syndrome have a deficiency of fatty aldehyde dehydrogenase. 4,17 The differential diagnosis is from conditions such as Rud's syndrome and Refsum's disease, combining neurological and dermatological disorders, and from other slowly progressive neurological disorders such as carbohydrate-deficient glycoprotein syndrome type 1, multiple sulphatase deficiency, neural lipid storage disorder, and mitochondrial disorders.…”

“…Also, it may be that the accumulation of aldehyde-modified lipids or fatty alcohol in white matter, corresponding to the lipid peaks seen on proton magnetic resonance spectroscopy, interferes with the functional integrity of myelin, thus explaining the link between the skin and brain disorder. 4,17 Evidence has been found for the defective inactivation of leukotriene B 4 among patients with this syndrome, and this may be the reason for the frequent preterm births among affected children. It certainly supports the concept of preterm labour as an intrauterine inflammatory response as leukotriene B 4 is a potent proinflammatory mediator.…”