Abstract:
Friedreich Ataxia (FA) is a rare autosomal recessive neurodegenerative disorder characterized by progressive ataxia, cardiomyopathy, and diabetes mellitus [1-3]. Hepatocellular carcinoma (HCC) is an unusual complication in FA patients, with few cases reported in the literature [4-10]. We present a case of a young Sudanese female with FA who developed HCC, highlighting the rare association and discussing the potential pathophysiological mechanisms. The patient presented with abdominal pain, vomiting, and weight loss. Imaging studies revealed a liver mass consistent with HCC. After histopathological confirmation, the patient underwent treatment, but the prognosis remained poor. This case emphasizes the importance of considering liver complications in FA patients However, HCC occurring in patients with FA is exceedingly rare, with only a few cases documented. This case report presents a young Sudanese female with FA who developed HCC, providing insight into the possible connection between mitochondrial dysfunction in FA and hepatocarcinogenesis.
Description:
Friedreich Ataxia (FA) is a rare autosomal recessive neurodegenerative disorder characterized by progressive ataxia, cardiomyopathy, and diabetes mellitus [1-3]. Hepatocellular carcinoma (HCC) is an unusual complication in FA patients, with few cases reported in the literature [4-10]. We present a case of a young Sudanese female with FA who developed HCC, highlighting the rare association and discussing the potential pathophysiological mechanisms. The patient presented with abdominal pain, vomiting, and weight loss. Imaging studies revealed a liver mass consistent with HCC. After histopathological confirmation, the patient underwent treatment, but the prognosis remained poor. This case emphasizes the importance of considering liver complications in FA patients However, HCC occurring in patients with FA is exceedingly rare, with only a few cases documented. This case report presents a young Sudanese female with FA who developed HCC, providing insight into the possible connection between mitochondrial dysfunction in FA and hepatocarcinogenesis.
