A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase. In this report, the authors describe 2 siblings with Sjögren-Larsson syndrome. Both the patients had generalized ichthyosis, and the older one had spastic paraplegia and mental retardation, and the fundus examination revealed foveal and parafoveal glistening dots. The authors report the large kinship with Sjögren-Larsson syndrome, which is a rare and most probably underdiagnosed syndrome.
Caglayan
Ahmet Okay
AO
Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey. aocaglayan@erciyes.edu.tr
Gumus
Hakan
H
D002547:Cerebral Palsy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D035781:Siblings; D016111:Sjogren-Larsson Syndrome / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology