Case Report: Concurrent Wilson Disease and Huntington Disease: Lightning Can Strike Twice
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CASE PRESENTATION
Case Report: Concurrent Wilson Disease and Huntington Disease: Lightning Can Strike Twice Andrea Zanko & Liane Abrams
Received: 17 July 2014 / Accepted: 27 October 2014 / Published online: 8 November 2014 # National Society of Genetic Counselors, Inc. 2014
Introduction
Case History
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.
Mr. G was 41 years old when he became aware of and frustrated by his impaired handwriting and significantly declining tennis game. By his mid 40’s, Mr. G felt jittery, walked with a shuffling gait and had restless leg movements. Simultaneously, Mr. G experienced emotional withdrawal from his family and uncharacteristic bouts of anger. Chronic and excessive alcohol use was initially believed to be responsible for the changes in his behavior. Mr. G was an architect, with graduate degrees and a successful practice. He was an accomplished athlete and socially prominent in the community. Mr. and Mrs. G were married for 13 years and parents of 2 children; a son, age 10 and a daughter, age 7. Mr. G’s parents were described as alcoholics and when the family was questioned later by the genetic counselor, it was revealed that Mr. G’s mother had progressive, involuntary movements and erratic behaviors which the family had attributed to her chronic alcohol use. Additionally, the genetic counselor learned that a maternal aunt and the maternal grandfather were described as fidgety with mood swings and anxiety. Mr. G’s three siblings (ages 49, 45, and 37 years) were professionally employed with no known physical or psychological symptoms. Prior to the genetic counselor’s involvement with this family, the family history had not been adequately explored or interpreted. When Mr. G’s emotional lability and physical compromise did not improve with sobriety, the family physi
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