A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

Jun Kido,Takehisa Watanabe,Kimitoshi Nakamura,Toshiyuki Fukao,Keishin Sugawara,Hideo Sasai,Hiroshi Mitsubuchi

doi:10.1038/s41439-021-00172-8

Jun Kido, Takehisa Watanabe + Show 5 more

Open Access

https://doi.org/10.1038/s41439-021-00172-8

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Abstract

Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282delATC (p. I94del)) definitively diagnosed using the GSD gene panel. She presented with hypoglycemia, hepatomegaly, and short stature and died of cirrhosis and recurrent multiple hepatocellular adenoma at the age of 69 years and 11 months.

Highlights

Glycogen storage disease type IX (GSD IX) is one of the most common forms of GSD caused by a defect in phosphorylase kinase (PhK)
Mutation in PHKG2 causes GSD IXc (MIM: 613027), a rare form that manifests as hepatomegaly, hypotonia, and growth retardation in childhood
She was diagnosed with hepatic GSD in childhood but self-discontinued clinical examination and treatment; later, she developed liver cirrhosis and hepatocellular carcinoma (HCC)

Summary

Pakistani Chinese

C.121T>C (p.C41R)/c.643G>A (p.D215N) c.130C>T (p.R44*) (homo) c.144delC (p.H48Qfs*5) (homo) c.247C>T (p.Q83*) (homo) c.256G>A (p.G86S)/c.925C>T (p.R309W) c.265_266insC (p.H89Pfs*13) (homo) c.265_266insC (p.H89Pfs*13)/c.900G>A W300*) c.272-1G>C (homo) c.277delC (p.L93Sfs*17) c.280_282delATC (p.I94del) (homo) c.317T>G (p.V106E) (homo) c.326+1G>A (homo) c.431T>C (p.L144P) (homo) c.433C>T (p.H145Y)/c.677T>G (p.L226R). Prominent cheeks, hypotonia, liver fibrosis, hypoglycemia, ketosis, elevated ASL/ALT, mild gross motor delay. Liver fibrosis, hypoglycemia, ketosis, elevated ASL/ALT, normal growth. Hypoglycemia, elevated ASL/ALT, mild liver fibrosis, markedly retarded growth. Hypoglycemia, growth delay, distal amyotrophia, elevated ASL/ALT, cirrhosis, portal fibrosis. Elevated ASL/ALT, growth impairment, liver cirrhosis, ascites, multiple hepatocellular carcinoma. Growth retardation, severe liver fibrosis, elevated ALT and triglycerides, proliferation of bile ducts. Elevated ASL/ALT, progressive splenomegaly and portal hypertension (starting from 7 y)

Comoran Caucasian

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