SJOGREN – LARSSON SYNDROME, TWO CASES FROM ONE FAMILY

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KARIMZADEH P.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Journal: Archives of Rehabilitation (Journal of Rehabilitation) Year:2006 | Volume:7 | Issue:1 (24) Page(s): 60-64

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Information Journal Paper

Title

SJOGREN – LARSSON SYNDROME, TWO CASES FROM ONE FAMILY

Author(s)

KARIMZADEH P. | Issue Writer Certificate

Keywords

SJOGREN - LARSSON SYNDROMEQ3

ICHTHYOSISQ3

SPASTIC DIPLEGIAQ3

ALDH3 A2 GENEQ3

Abstract

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".

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APA: Copy

KARIMZADEH, P.. (2006). SJOGREN – LARSSON SYNDROME, TWO CASES FROM ONE FAMILY. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), 7(1 (24)), 60-64. SID. https://sid.ir/paper/43511/en

Vancouver: Copy

KARIMZADEH P.. SJOGREN – LARSSON SYNDROME, TWO CASES FROM ONE FAMILY. ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION)[Internet]. 2006;7(1 (24)):60-64. Available from: https://sid.ir/paper/43511/en

IEEE: Copy

P. KARIMZADEH, “SJOGREN – LARSSON SYNDROME, TWO CASES FROM ONE FAMILY,” ARCHIVES OF REHABILITATION (JOURNAL OF REHABILITATION), vol. 7, no. 1 (24), pp. 60–64, 2006, [Online]. Available: https://sid.ir/paper/43511/en

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