A 24-year-old man is brought to the physician for a follow-up appointment. He initially presented 4 weeks ago with an acute episode of psychosis and personality changes, and he was prescribed low dose risperidone. He subsequently developed tremor and gait abnormalities. The patient's father died from liver failure at age 40. His mother is alive at age 60 and is a smoker with mild emphysema. He has two siblings who are alive and healthy. The patient drinks 2-3 beers daily and has smoked two packs of cigarettes per day for the last five years.
His vital signs are within normal limits. The patient's BMI is 23 kg/m². Lungs are clear to auscultation. Examination reveals a nontender abdomen. The liver is palpable 3 cm below the right costal margin. A bilateral resting tremor is noted in his hands.
Laboratory studies obtained 4 weeks ago during his first visit are shown below.

Complete blood count, renal function panel, urinalysis, and thyroid function testing are within normal limits. Urine toxicology screen is negative.
Which of the following is the most appropriate next step in management?

Question

A 24-year-old man is brought to the physician for a follow-up appointment. He initially presented 4 weeks ago with an acute episode of psychosis and personality changes, and he was prescribed low dose risperidone. He subsequently developed tremor and gait abnormalities. The patient's father died from liver failure at age 40. His mother is alive at age 60 and is a smoker with mild emphysema. He has two siblings who are alive and healthy. The patient drinks 2-3 beers daily and has smoked two packs of cigarettes per day for the last five years.
His vital signs are within normal limits. The patient's BMI is 23 kg/m². Lungs are clear to auscultation. Examination reveals a nontender abdomen. The liver is palpable 3 cm below the right costal margin. A bilateral resting tremor is noted in his hands.
Laboratory studies obtained 4 weeks ago during his first visit are shown below.

Complete blood count, renal function panel, urinalysis, and thyroid function testing are within normal limits. Urine toxicology screen is negative.
Which of the following is the most appropriate next step in management?

Quizplus · Accepted Answer

11ec193a_97f8_e02c_853d_87612e66def4_MD0002_00 This patient presents with psychosis and liver disease (non-hepatitis B or C). His tremor and gait disturbances could be due to drug-induced Parkinsonism. However, the combined presence of liver abnormalities, family history of liver disease, psychiatric symptoms, and young age suggest likely Wilson disease (hepatolenticular degeneration). Dopamine antagonism due to risperidone use may have precipitated his more acute Parkinsonian symptoms. Wilson disease is an autosomal recessive disorder that causes defective copper transport leading to copper accumulation, most commonly in the liver and brain. Nearly 35% of patients present with neurologic symptoms (e.g., Parkinsonian-like tremor, rigidity, clumsy gait, slurred speech), usually before age 30. Kayser-Fleischer rings (copper deposition in the eye) are present in 50-60% of Wilson disease patients with isolated hepatitis and > 90% of patients with neurological symptoms. All patients should undergo slit lamp examination, but the absence of Kayser-Fleischer rings does not rule out the diagnosis. Diagnosis is supported by increased serum and urine copper levels, and decreased serum ceruloplasmin levels. Early diagnosis and medical therapy with penicillamine or trientine may prevent many of the permanent sequelae. (Choice A) Anti-smooth muscle antibodies are found in autoimmune hepatitis, which often presents with nonspecific complaints (e.g., arthralgias, fatigue, and weight loss) and is associated with extrahepatic conditions (e.g., immune thrombocytopenia, type 1 diabetes mellitus, thyroiditis, celiac disease, and ulcerative colitis). This patient's neurologic symptoms and lack of autoimmune symptoms makes this diagnosis unlikely. (Choice C) Knee pain, chondrocalcinosis, and liver function abnormalities are also seen with hemochromatosis. However, neurologic disease is rare in hemochromatosis. (Choice D) Lumbar puncture is indicated for suspected meningitis or encephalitis. However, this patient's lack of fever, altered mentation, and headache makes this diagnosis less likely. (Choice E) Alpha-1 antitrypsin (A1AT) deficiency can lead to liver and lung disease; development of panacinar emphysema in smokers can be accelerated by as early as 19 years. Isolated liver disease is less common in A1AT deficiency, and this patient's neurologic findings and lack of pulmonary findings make this consideration unlikely. Educational objective: Chronic liver disease associated with neuropsychiatric manifestations suggests Wilson disease, which is caused by a defect in copper transport. Kayser-Fleischer rings are characteristic, but their absence on slit lamp examination does not rule out the diagnosis. __________ References: Clinical molecular diagnosis of Wilson disease (http://www.ncbi.nlm.nih.gov/pubmed/21901653) Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment (http://www.ncbi.nlm.nih.gov/pubmed/21901655) Wilson's disease. Psychiatric manifestations may be the clinical presentation. (http://www.ncbi.nlm.nih.gov/pubmed/8202418)

A 24-Year-Old Man Is Brought to the Physician for a Follow-Up