Case Report: Concurrent Wilson Disease and Huntington Disease: Lightning Can Strike Twice

Excerpt

Differential diagnosis in clinical genetics often involves an exercise in logical deductive reasoning with a sequential approach in pursuit of an etiology. In the medical genetics field, the differential diagnosis is guided by a combination of pedigree analysis, medical and developmental histories, and physical examination, imaging studies, cytogenetics, molecular genetics/next generation sequencing and a myriad of metabolic and hematologic studies. However, even with all these testing options, there is still value in the art of gestalt – that observation of the whole – when considering a diagnosis. We know that the thunder of hooves is likely to be the horse rather than the zebra. But what if the two are grazing side by side? We present a patient with physical, cognitive and psychiatric symptoms, all of which are evident in both Wilson and Huntington diseases. In addition to the complexities of having co-morbid diagnoses, this case illustrates the psychosocial consequences of having two conditions with discordant natures; one being autosomal recessive and treatable, the other being autosomal dominant and not treatable. Lastly, this case illustrates the importance of timely genetic counseling in the face of a difficult diagnostic picture and complex family dynamics. …