Ann Pediatr Endocrinol Metab.  2022 Sep;27(3):229-235. 10.6065/apem.2142042.021.

Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity

• Im M
• Song A
• Kim J
• Kim MS
• Lee SM
• Kim MJ
• Cho SY
• Jin DK

• KMID: 2533343
• DOI: http://doi.org/10.6065/apem.2142042.021

Abstract

Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement. WD may be overlooked as a cause of liver disease due to severe obesity but should not be excluded from differential diagnosis. We report a case of WD with severe obesity and fatty liver diagnosed in the early phase by targeted gene panel sequencing and review the endocrine problems associated with WD. Early suspicion of WD is important for good prognosis.

Keyword

Obesity; Nonalcoholic fatty liver disease; Hepatolenticular degeneration

Figure

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  Fig. 1. The changes in patient growth curves and BMI-SDS. His weight remained above the 95th percentile for age from 13 month, and his BMI was always >2 SDS for his age (5.43–13.07 SDS). BMI, body mass index; SDS, standard deviation score.

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  Fig. 2. Sanger sequencing confirmation of the compound heterozygous mutations for c.2513del (p.Lys838SerfsTer*35) and c.2333G>T (p.Arg778Leu) in the ATP7B gene on chromosome 13q14.3. One heterozygous variant was found in each of the patient’s father and mother, respectively.

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  Fig. 3. Liver enzyme transition in the patient. After treatment began (at age 5 years 1 month, indicated by the dotted line), enzyme levels decreased. AST, aspartate aminotransferase; ALT, alanine aminotransferase.

Reference

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