PubMed · 10665967
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S H Green. 2000. Think metabolically.. https://doi.org/10.1017/s0012162200000013
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INTRODUCTION: Inborn errors of metabolism are a difficult group of disorders to diagnose. Clinical signs and symptoms overlap among the different diseases, biochemical tests are often nonspecific or unrevealing, and genetic analyses are time consuming, expensive, and often not commercially available. Imaging can aid in diagnosing some disorders, but the imaging findings of many disorders seem to overlap, particularly as more and more disorders are identified and described. DEVELOPMENT: Several groups have proposed an imaging approach based upon pattern recognition on magnetic resonance imaging, supplemented by metabolic data from proton magnetic resonance spectroscopy and microstructural data, as assessed by diffusion weighted imaging. CONCLUSION: When properly used, this pattern recognition approach in conjunction with the other imaging tools can be very useful for separating the complex group of metabolic disorders into more manageable groups. Indeed, sometimes this approach allows a specific diagnosis to be made.
We describe a 61-year-old woman who gradually developed deficits of balance, gait, and the ability to negotiate movement in space, together with an unusual pattern of cognitive deficits. A series of non-invasive investigations over three years including EEG, CT, MRI, PET and serial neuropsychological review had not provided a diagnosis. Significantly, the four neuropsychological assessments had revealed no progressive decline in cognition. Brain biopsy revealed an abundance of corpora amylacea, and a diagnosis of adult polyglucosan body disease (APBD) was made. This case contributes to the body of knowledge about the cognitive manifestations of this rare disease, and the stability of its functional impact over time.