BACKGROUND: The first mention of a condition in which apparently non­psychotic individuals have a strong, unrelenting desire to amputate ≥1 of their healthy limbs was published nearly 4 decades ago. Once dismissed as a paraphilia, the condition in recent years has been re-investigated with neurologic testing and imaging, yielding evidence suggesting it may be attributable to a neuroanatomical anomaly.

METHODS: A literature review of data was conducted of recently published studies with pinprick testing, magnetic resonance imaging (MRI)/func­tional MRI imaging, magnetoencephalography, and interviews of indi­viduals with a desire for limb amputation.

RESULTS: Published literature on this condition features studies with a lim­ited number of participants. However, the results indicate that affected individuals predominantly desire amputation of the left lower limb, and correspondingly, usually have changes in cortical thickness in the right parietal lobe.

CONCLUSIONS: Further investigation of this condition is warranted, par­ticularly, more research into the precise nature of the anomalous neuro­anatomy, biopsychosocial background of those with the condition, and longitudinal perspective of the childhood onset and evolution of symp­toms. Large sample studies involving a collaborative effort across multiple sites are required.