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The implementation of array comparative genomic hybridization in clinical practice has helped to identify syndromes in patients that were previously unsuspected. This Case Study describes a patient with mental retardation who was found to have an interstitial deletion of chromosome 5 encompassing the adenomatous polyposis coli tumor suppressor locus, with major implications for her care and management.
In this Case Study, the authors describe how sulfonylurea therapy not only restored glucose homeostasis, but also alleviated some of the neurological symptoms in a patient with intermediate DEND syndrome. Single-photon emission CT provided evidence of increased CNS blood flow and function that correlated with mental and motor improvements.