Volume 7, Number 1 (Spring 2006)                   Vol. , No. , Season & Year , Serial No. | Back to browse issues page


XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Karim-Zadeh P. Case Report: Sjogren-Larsson Syndrome: Two Cases from One Family. Archives of Rehabilitation. 2006; 7 (1) :60-64
URL: http://rehabilitationj.uswr.ac.ir/article-1-63-en.html

Associate Professor Department of Pediatric Neurology, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. , E-mail: Pkarimadeh@yahoo.com
Abstract:   (8187 Views)

Sjogren–Larsson Syndrome (SLS) is an autosomal recessive disorder characterized by generalized Ichthyosis, mental retardation, spastic diplegia or tetraplegia and epilepsy. This is a rare syndrome that caused by mutation in the ALDH3A2 gene, on chromosome 17p11.2. That encodes fatty aldehyde dehydrogenase (FAIDH), an enzyme that catalyzes the oxidation of medium – long chain aldehydes derived from lipid metabolism.

Neuroimaging (MRI) shows retardation of myelination and a mild myelin deficit. Proton Magnetic Resonance Spectroscopy (MRS) shows the peak of lipids that accumulate because of fatty alchohols. We report two cases that they are siblings from relative parents. The Brother is 4 years old and his sister is 3 years old. , The clinical findings are developmental delay, mental retardation, spastic Tetraplegia and refractory seizure. The most important finding in these two siblings was generalized Icthyosis. MRI showed hyper signality in white matter and MRS showed the peak of accumulated lipids that confirmed the diagnosis of "Sjogren-Larsson Syndrome".

Full-Text [PDF 1308 kb]   (1082 Downloads)    
Type of Study: Case report | Subject: General
Received: 12/08/2007 | Accepted: 11/10/2015 | Published: 11/10/2015

Add your comments about this article : Your username or email:
Write the security code in the box

Send email to the article author


© 2015 All Rights Reserved | Archives of Rehabilitation

Designed & Developed by : Yektaweb