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Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome

Michael Potegal1, Brianna Yund, Kyle Rudser

  • 1Department of Pediatrics and Neurology, Division of Biostatistics, Minneapolis, MN, USA. poteg001@umn.edu

Journal of Clinical and Experimental Neuropsychology
|June 11, 2013
PubMed

Insights

Mucopolysaccharidosis Type IIIA (MPS IIIA) presents unique behavioral symptoms resembling Klüver-Bucy syndrome (K-Bs). This neurodegenerative disease shows amygdala volume loss correlated with reduced fearfulness in affected children.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidosis Type IIIA (MPS IIIA) is a rare neurodegenerative lysosomal storage disorder.
  • MPS IIIA exhibits distinct behavioral symptoms, including hyperorality, excessive exploration, and reduced fear, unlike other mucopolysaccharidoses.
  • These behaviors overlap significantly with Klüver-Bucy syndrome (K-Bs), a condition typically associated with bilateral amygdala damage.

Purpose of the Study:

  • To investigate the hypothesis that MPS IIIA presents as a variant of Klüver-Bucy syndrome.
  • To compare the behavioral responses of children with MPS IIIA to those with MPS IH in a controlled environment.
  • To explore the neuroanatomical correlates of these behaviors, specifically focusing on amygdala function.

Main Methods:

  • A comparative study involving 30 children with MPS IIIA and 8 children with MPS IH (post-transplant).
  • Utilized an experimental 'risk room' to assess behavioral responses to novel objects, startling noise, maternal separation/reunion, and compliance tasks.
  • Brain MRI scans were performed on a subset of MPS IIIA patients to evaluate amygdala and hippocampal volumes.

Main Results:

  • Children with MPS IIIA demonstrated significantly different behaviors compared to MPS IH controls, including earlier departure from mother, increased wandering, and less fear response to startling stimuli.
  • MPS IIIA patients showed reduced avoidance of the toy associated with the startle noise, less interaction upon maternal return, and lower compliance with directives.
  • Brain MRI revealed greater amygdala volume loss in MPS IIIA patients, with amygdala atrophy correlating with diminished fearfulness.

Conclusions:

  • The findings support the hypothesis that MPS IIIA may represent a pediatric variant of Klüver-Bucy syndrome.
  • This study identifies specific behavioral and neuroanatomical markers for MPS IIIA, potentially aiding in clinical management and treatment monitoring.
  • Further research is warranted to validate the K-Bs hypothesis and its implications for understanding MPS IIIA progression and therapeutic interventions.

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