The Denver Community Bioethics Committee (DCBC) is an independent, community-based group that undertakes ethics consultations for any individual or organization. Its members include adult protection professionals, physicians, elder-law attorneys, chaplains, nurses, social workers, and lay persons. In its 11-year history, the Committee has heard numerous cases concerning end-of-life care, futile treatment, and patients' rights. In 2003, a Colorado hospice provider asked the DCBC for assistance in developing a policy on deactivation of pacemakers and defibrillators in competent hospice patients. The hospice had encountered concerns from some physicians and cardiac care clinicians that deactivating such devices treads the fine line between legitimate withdrawal of burdensome treatment and assisted death. Although the specific deliberations of the DCBC are confidential, this article summarizes contributions from the committee's discussion, as well as independent research undertaken by the author.
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Background: Congenital disorders of glycosylation (CDG) are a group of metabolic disorders related to dysfunctional glycoprotein and glycolipid biosynthesis. ALG11-related CDG is a rare member of this group, characterized by severe neurodevelopmental impairment, progressive microcephaly, sensorineural hearing loss, and epilepsy. The objective of this report is to provide an update on the phenotype and brain magnetic resonance imaging (MRI) at age seven years for a patient initially described in early infancy with fetal brain disruption sequence.
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