Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.

ABSTRACT:

Background and purpose

X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital and skeletal abnormalities, and autistic and peculiar behavior. More than 200 patients in the world, including >70 Japanese patients, have been diagnosed with ATR-X syndrome.

Materials and methods

We reviewed the brain MRI and/or CT findings of 27 Japanese patients with ATR-X with ATRX mutations retrospectively.

Results

The findings were categorized into 5 types: 1) nonspecific brain atrophy (17/27); 2) white matter abnormali

SUBMITTER: Wada T 

PROVIDER: S-EPMC7965407 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature