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Abnormal brain iron accumulation is a rare finding in Down Syndrome Regression Disorder

      Abstract

      Background

      Down Syndrome Regression Disorder (DSRD) is characterized by the sudden loss of adaptive function, cognitive-executive function, language, with abnormal sleep and/or motor control.

      Methods

      Clinical, laboratory and imaging data from 3 individuals with DSRD and iron on brain imaging were reviewed.

      Results

      Three patients with Down syndrome presented with new onset of flat affect, depression, reduced speech, and other neurologic symptoms consistent with DSRD. Magnetic resonance imaging showed abnormal iron accumulation in the basal ganglia, as well as calcification in 2 cases. Molecular diagnostic testing for NBIA was negative in the 2 individuals tested.

      Discussion

      These cases presented suggest a subset of individuals with DSRD have abnormal brain iron accumulation. Motor control symptoms reported in DSRD, such as stereotypies and parkinsonism, may reflect this basal ganglia involvement. The presence of abnormal brain iron should not delay or preclude diagnosis and treatment for DSRD.

      Key words

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