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Updated: Feb 9, 2026
10:53
Functional Imaging of Brown Fat in Mice with 18F-FDG micro-PET/CT
Published on: November 23, 2012
19.8K
Diffuse 18F-FDG Avidity in Liver Associated With X-Linked Protoporphyria on PET/CT.
Zhanli Fu, Meng Liu, Xueqi Chen
1Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
Clinical Nuclear Medicine
|June 13, 2018
Summary
X-linked protoporphyria (XLP) is a rare genetic disorder. This case highlights F-FDG PET/CT imaging findings and liver biopsy results in diagnosing XLP.
Area of Science:
- Biomedical imaging
- Genetics
- Hepatology
Background:
- X-linked protoporphyria (XLP) is an inherited metabolic disorder.
- It results from a deficiency in the enzyme ferrochelatase, leading to the accumulation of protoporphyrins.
- Clinical manifestations can include photosensitivity, liver disease, and hematologic abnormalities.
Observation:
- A 43-year-old woman presented with photosensitive skin rash, abnormal liver function, and pancytopenia.
- F-FDG PET/CT revealed hepatomegaly, splenomegaly, and diffuse hepatic F-FDG uptake.
- Liver biopsy showed intrahepatic cholestasis and biliary fibrosis due to protoporphyrin deposition.
Findings:
- Genetic analysis confirmed X-linked protoporphyria.
- The imaging and biopsy findings were consistent with protoporphyrin accumulation in the liver.
- This case illustrates the utility of F-FDG PET/CT in evaluating liver involvement in XLP.
Implications:
- Early diagnosis of XLP is crucial for managing potential complications.
- F-FDG PET/CT can serve as a valuable tool in the diagnostic workup of suspected XLP.
- Understanding the imaging characteristics of XLP can aid in patient management and treatment strategies.
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