Phenotypic variability among adult siblings with Sjogren-Larsson syndrome.

ABSTRACT:

Background

Sjögren-Larsson syndrome (SLS) is an early childhood-onset disorder with ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy caused by the deficiency of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene (the gene that encodes microsomal fatty aldehyde dehydrogenase). Cerebral proton magnetic resonance spectroscopy in those with SLS demonstrates an abnormal white matter peak at 1.3 ppm, consistent with long-chain fatty alcohol accumulation.

Objective

To define the clinical course and proton magnetic resonance spectroscopic findings of SLS in adults.

Design and setting

Case series in a tertiary care center.

Patients

Six siblings of a consanguineous Arab family with early childhood-onset SLS wh

SUBMITTER: Lossos A 

PROVIDER: S-EPMC3086176 | biostudies-literature | 2006 Feb

REPOSITORIES: biostudies-literature