Metal May Mask Mental Mayhem

[ironjustice]

"Iron accumulation in deep brain nuclei"

CASE REPORT
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a
behavioural disorder
Jacqueline Brady1, Aditi Trehan1, Dennis Landis2, Camilo Toro2
BMJ Case Reports 2013; doi:10.1136/bcr-2013-009592
1Office of the Clinical Director, NHGRI/NIH, Bethesda, Maryland, USA
2Undiagnosed Diseases Program, NHGRI/NIH, Bethesda, Maryland, USA
Dr Camilo Toro, to...@mail.nih.gov
Summary
Inborn errors of metabolism (IEMs) that manifest primarily as
psychiatric and behavioural symptoms in childhood are often mistaken
for idiopathic primary psychiatric disorders.
The pathophysiological basis of these symptoms may be overlooked until
later in the disease course when neurological deficits become
dominant; this results in a significant delay in establishing a proper
diagnosis.
To illustrate this, we describe two siblings who presented with
behavioural issues and mild learning disabilities in childhood, and
were consequently given multiple psychiatric diagnoses.
In early adulthood, however, they manifested a rapid cognitive
decline. Subsequent cranial MRI imaging revealed progressive brain
iron accumulation in deep brain nuclei.
Whole exome sequencing and biochemical investigation confirmed the
diagnosis of mucopolysaccharidosis type IIIB.
Their long diagnostic odyssey illustrates the importance of
considering IEMs when assessing individuals with behavioural
abnormalities and cognitive impairment.

BMJ Case Reportscasereports.bmj.com

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