Abnormal Brain Iron Accumulation is a Rare Finding in Down Syndrome Regression Disorder

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Down syndrome regression disorder (DSRD) is characterized by the sudden loss of adaptive function, cognitive-executive function, and language with abnormal sleep and/or motor control. Methods: Clinical, laboratory, and imaging data from three 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 neurological symptoms consistent with DSRD. Magnetic resonance imaging showed abnormal iron accumulation in the basal ganglia, as well as calcification in two cases. Molecular diagnostic testing for neurodegeneration with brain iron accumulation was negative in the two individuals tested. Conclusions: These individuals presented suggest that 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.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalPediatric Neurology
Volume138
DOIs
StatePublished - Jan 2023
Externally publishedYes

Keywords

  • Basal ganglia calcification
  • Basal ganglia iron
  • DSRD
  • Down syndrome regression disorder
  • Neurodegeneration with brain iron accumulation
  • Unexplained regression in Down syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Fingerprint

Dive into the research topics of 'Abnormal Brain Iron Accumulation is a Rare Finding in Down Syndrome Regression Disorder'. Together they form a unique fingerprint.

Cite this