Annals of Medicine and Surgery · 6 authors, 2 centres
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This case report describes a 15-year-old female with Wilson disease who developed acute bilateral blindness due to optic neuropathy, a rare complication. The patient had elevated urinary copper (127.8 µg/24h) and decreased serum ceruloplasmin (12.6 mg/dl), but no Kayser-Fleischer rings. The case highlights the need for early recognition of Wilson disease in patients with acute hepatitis and neurologic symptoms to prevent irreversible damage.
**Background:** Wilson disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutations, leading to copper accumulation. It typically presents with hepatic, neurologic, or psychiatric symptoms. Optic neuropathy is a rare complication, with only five cases (including this one) reported in the literature. This case report describes a 15-year-old female who developed acute bilateral blindness due to WD-associated optic neuropathy.
**Methods:** This is a case report and literature review. The patient presented to the emergency department with confusion, disorientation, colicky abdominal pain, and constipation. Laboratory tests showed elevated urinary copper (127.8 µg/24h, reference up to 60 µg/24h), decreased serum ceruloplasmin (12.6 mg/dl, reference 22–61 mg/dl), and elevated liver enzymes (ALT 278 U/l, AST 204 U/l, ALP 232 U/l). Abdominal ultrasound and brain CT were normal. Less than 2 days after admission, the patient experienced sudden bilateral blindness. Ophthalmic examination revealed normal reactive pupils and no optic disc edema or Kayser-Fleischer rings. Due to severe neurological manifestations, penicillamine was not administered. The patient deteriorated rapidly and died the next day from acute liver failure.
**Key Results:** The patient had biochemical evidence of WD (low ceruloplasmin, high urinary copper) and acute hepatitis (elevated bilirubin 31.5 mg/dl, ALT 278 U/l, AST 204 U/l, ALP 232 U/l). INR was 4.2. Anti-HAV IgM was positive (9.14 Ru/ml), suggesting possible concurrent hepatitis A. The literature review identified four previous cases of WD with optic neuropathy: three males and two females, ages 14–46 years, all of Asian origin. Outcomes varied: one complete recovery, two incomplete recoveries, one legal blindness without recovery, and one death (our case). Kayser-Fleischer rings were absent in our patient, despite being present in 97.6% of neurologic WD cases.
**Clinical Implications:** This case underscores the importance of considering WD in young patients with acute hepatitis and neurologic symptoms, even in the absence of Kayser-Fleischer rings. Optic neuropathy is a rare but serious complication that can occur rapidly. Early diagnosis and treatment with chelation therapy (e.g., D-penicillamine, trientine, zinc) are crucial, as delayed treatment can lead to irreversible damage or death. However, D-penicillamine may worsen neurologic symptoms in 10–50% of patients. The mechanism of optic neuropathy in WD remains unclear, and further research is needed. Public health initiatives should increase awareness of WD in high-risk populations, particularly Eastern Asian communities.