C0558 - Wilson Disease in a U.S. Navy Pilot: Delayed Diagnosis With Drastic Career Implications

Zachary Johnston, MD¹, Ryan Kwok, MD^2
1Walter Reed National Military Medical Center, Bethesda, MD; ²Madigan Army Medical Center, Auburn, WA

Introduction: Wilson disease is an autosomal recessive genetic disorder of the intracellular copper transport ATP7B leading to impaired copper excretion and subsequent accumulation in the liver, brain and cornea. Index symptoms vary widely and include neurologic and psychiatric abnormalities. The wide array of subtle symptoms often lead to significant delays in diagnosis and thus prognostic implications for patients diagnosed with this rare disease. In the Armed Forces, the diagnosis and clinical sequelae can have drastic career implications especially when neurologic sequelae are resistant to treatment.

Case Description/Methods: A 28 year old US Navy pilot male presented to behavioral health clinic with complaint of depressed mood. He was diagnosed with major depressive disorder which was resistant to traditional treatment for over a year. He developed fasciculations of his neck and arms which was associated with initiation of an SSRI. When he had difficulty landing an aircraft due these progressive symptoms, he was deemed incapable of flight. He later required admission for suicidal ideations. He had several concerning incidents occur including driving over a median and through several red lights. Neurology was consulted and examination showed hyperkinetic movements of his extremities with head and voice tremors. Lab work revealed ALT 52 and AST 48 and later, a ceruloplasmin of 6.7. A slit lamp exam was performed revealing Kayser-Fleischer rings. MRI brain showed abnormal T2 signal within the basal ganglia and midbrain consistent with copper deposition. MRI liver was consistent with cirrhosis. A liver biopsy confirmed the diagnosis of Wilson disease with cirrhosis. He was started on trientene and zinc for chelation and his mood markedly improved. However, his neurologic abnormalities have persisted despite ongoing therapy for over 4 years, permanently ending his piloting career.

Discussion: Our case highlights the importance of careful clinical consideration in patients presenting with psychiatric complaints. We aim to highlight this patient’s response to therapy, and lack thereof, as the range of patient response can be quite broad. The majority of patient’s have significant or even total resolution of symptoms. Our patient had significant improvement in depression after chelation therapy but his neurologic symptoms did not recover. Regrettably, the patient’s Navy pilot career was brought to an early close given the severity of his symptoms and lack of response and thus, inability to perform as an aviator.


Disclosures:


Zachary Johnston, MD¹, Ryan Kwok, MD². C0558 - Wilson Disease in a U.S. Navy Pilot: Delayed Diagnosis With Drastic Career Implications, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.