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Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

Niemann–Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disease, resulting from mutations in the cholesterol trafficking proteins NPC1 or NPC2, which is characterized by progressive neurodegeneration and hepatic dysfunction. The hepatic involvement in NPC is usually neona...

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Autores principales: Hwang, Soojin, Choi, Yunha, Lee, Beom Hee, Choi, Jin‐Ho, Kim, Ja Hye, Yoo, Han‐Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830012/
https://www.ncbi.nlm.nih.gov/pubmed/36636588
http://dx.doi.org/10.1002/jmd2.12344
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author Hwang, Soojin
Choi, Yunha
Lee, Beom Hee
Choi, Jin‐Ho
Kim, Ja Hye
Yoo, Han‐Wook
author_facet Hwang, Soojin
Choi, Yunha
Lee, Beom Hee
Choi, Jin‐Ho
Kim, Ja Hye
Yoo, Han‐Wook
author_sort Hwang, Soojin
collection PubMed
description Niemann–Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disease, resulting from mutations in the cholesterol trafficking proteins NPC1 or NPC2, which is characterized by progressive neurodegeneration and hepatic dysfunction. The hepatic involvement in NPC is usually neonatal cholestasis and hepatosplenomegaly. Only a few cases of severe hepatic complications were reported including acute liver failure, cirrhosis, and hepatocellular carcinoma (HCC). We described the case of a 6‐year‐old male with NPC with HCC. He had a history of neonatal cholestasis and motor delay. At the age of 6 months, he was diagnosed with NPC, which was confirmed by the detection of a compound heterozygous NPC1 mutation (p.C113Y/p.A927V). He presented recurrent hypoglycemia and abdominal distension. An ultrasound, computed tomography scan, and biopsy revealed that he had a stage IV HCC with pulmonary metastasis. With the literature review and this case, HCC can be a rare fatal comorbid condition in patients with NPC, particularly infantile‐onset, male patients with a relatively long disease history, necessitating appropriate HCC surveillance.
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spelling pubmed-98300122023-01-11 Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review Hwang, Soojin Choi, Yunha Lee, Beom Hee Choi, Jin‐Ho Kim, Ja Hye Yoo, Han‐Wook JIMD Rep Case Reports Niemann–Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disease, resulting from mutations in the cholesterol trafficking proteins NPC1 or NPC2, which is characterized by progressive neurodegeneration and hepatic dysfunction. The hepatic involvement in NPC is usually neonatal cholestasis and hepatosplenomegaly. Only a few cases of severe hepatic complications were reported including acute liver failure, cirrhosis, and hepatocellular carcinoma (HCC). We described the case of a 6‐year‐old male with NPC with HCC. He had a history of neonatal cholestasis and motor delay. At the age of 6 months, he was diagnosed with NPC, which was confirmed by the detection of a compound heterozygous NPC1 mutation (p.C113Y/p.A927V). He presented recurrent hypoglycemia and abdominal distension. An ultrasound, computed tomography scan, and biopsy revealed that he had a stage IV HCC with pulmonary metastasis. With the literature review and this case, HCC can be a rare fatal comorbid condition in patients with NPC, particularly infantile‐onset, male patients with a relatively long disease history, necessitating appropriate HCC surveillance. John Wiley & Sons, Inc. 2022-11-09 /pmc/articles/PMC9830012/ /pubmed/36636588 http://dx.doi.org/10.1002/jmd2.12344 Text en © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Hwang, Soojin
Choi, Yunha
Lee, Beom Hee
Choi, Jin‐Ho
Kim, Ja Hye
Yoo, Han‐Wook
Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
title Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
title_full Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
title_fullStr Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
title_full_unstemmed Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
title_short Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review
title_sort pediatric hepatocellular carcinoma associated with niemann–pick disease type c: case report and literature review
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830012/
https://www.ncbi.nlm.nih.gov/pubmed/36636588
http://dx.doi.org/10.1002/jmd2.12344
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