Aug 2026· ACG Case Reports Journal· Vol 13· 0 citations· 16 references
Medicine
TL;DR
A 47-year-old asymptomatic man is presented who was incidentally discovered to have hepatic steatosis and cirrhosis without features of the metabolic syndrome and with normal physical examination and liver function tests, the first reported case of homozygosity for this mutation.
Abstract
ABSTRACT Wilson disease (WD) is a rare disorder that may be missed because of atypical presentations. We present a 47-year-old asymptomatic man who was incidentally discovered to have hepatic steatosis and cirrhosis without features of the metabolic syndrome and with normal physical examination and liver function tests. Very low ceruloplasmin and high urine copper prompted evaluation for WD. He had no Kayser–Fleischer rings. Genetic testing revealed a novel homozygous splice-site ATP7B variant (NM_000053.2:c.1707+2dupT p.(?)), the first reported case of homozygosity for this mutation. This case highlights the importance of considering WD in patients with unexplained hepatic steatosis and cryptogenic cirrhosis.
BACKGROUND
Wolman disease is a rare autosomal recessive lysosomal storage disorder caused by lysosomal acid lipase deficiency, with fewer than 150 cases reported. It often presents in infancy with hepatosplenomegaly and adrenal calcification.
METHODS
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Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism caused by pathogenic variants in the ATP7B gene. Patients with WD often suffer from delayed diagnosis due to complex clinical manifestations. When left untreated, patients develop neurological disabilities and life-threatening hepatic compl...
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