A 13-year-old boy is brought to the office by his parents after being involved in a fight with another student at school. His parents say, "He has never gotten into fights before, and we are getting worried because his grades have been declining as well. He seems irritable and moody, stays in his room for hours at a time, and no longer invites friends home." When interviewed alone about the incident, the patient says, "The wall people warned me that he was trying to poison my lunch." The patient has no significant medical history; there is a family history of bipolar disorder in a paternal aunt. Temperature is 37.2 C (99 F), blood pressure is 130/80 mm Hg, pulse is 98/min, and respirations are 14/min. Physical examination shows a postural tremor on extension of the arms and a broad-based gait. Mental status examination is significant for slurred speech, sad mood, and distractibility. Laboratory studies reveal elevated serum transaminases. Which of the following is the most likely diagnosis?
Wilson disease | |
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This patient's auditory hallucinations, mood and personality changes associated with neurologic features (slurred speech, tremor, gait instability), and abnormal liver function tests suggest a diagnosis of Wilson disease. Wilson disease is an autosomal recessive condition marked by copper accumulation in the liver, brain, and cornea, which most commonly manifests in childhood, adolescence, or early adulthood with hepatic involvement and/or neuropsychiatric symptoms.
Psychiatric symptoms range from subtle personality changes to depression, mania, and/or psychosis. These symptoms may predate hepatic or neurologic manifestations and be mistaken for normal adolescence or primary psychiatric illness. Evaluation includes a ceruloplasmin level, 24-hour urinary copper excretion, and slit-lamp examination for copper deposition in the cornea (Kayser-Fleischer rings).
(Choice A) Acute intermittent porphyria (AIP) can present with psychiatric symptoms; however, these are episodic in nature and normally associated with abdominal pain and peripheral neuropathy. AIP commonly manifests in midlife rather than childhood.
(Choice B) Heavy alcohol use can result in elevated transaminases and psychiatric symptoms, and acute intoxication can present with slurred speech and unsteady gait. However, acute intoxication would likely present with stupor or disinhibition, alcohol on the breath, and additional findings such as abnormal vital signs (eg, hypotension, tachycardia), or other metabolic abnormalities (eg, hypoglycemia, hyperlactatemia). Tremors would be expected in alcohol withdrawal, not intoxication.
(Choices C and E) Although this patient has mood and psychotic symptoms, these primary psychiatric disorders would not explain his neurologic findings and abnormal liver function tests. Major depressive and bipolar disorders are not diagnosed when symptoms are attributable to another medical condition.
(Choice D) In hemochromatosis, there is an abnormal buildup of iron, which particularly affects the liver, heart, and pancreas. It may present with abnormal liver function tests, diabetes, arthralgia, and/or cardiomegaly. Hemochromatosis tends to present in later life (eg, age ≥ 40). Neurologic findings and psychosis are uncommon.
(Choice F) Prodromal schizophrenia often presents with personality changes and social withdrawal prior to the onset of overt psychosis. However, because primary psychotic disorders in children and adolescents are rare, a thorough workup of substance-induced and other etiologies is necessary. This patient's psychiatric symptoms are better explained as a manifestation of Wilson disease.
Educational objective:
Wilson disease is associated with copper accumulation in the liver, brain, and cornea. It can present in childhood or adolescence with abnormal liver function tests and/or neuropsychiatric symptoms. Psychiatric symptoms may predate other manifestations and include personality changes, depression, mania, and/or psychosis.