Alagille syndrome in a child combined with hepatocellular carcinoma:a case report and literature review / 临床儿科杂志

ABSTRACT

Objective To explore the clinical manifestation, imaging examination, treatment and prognosis of Alagille syndrome in a child combined with hepatocellular carcinoma. Method The clinical manifestation, assistant examination and diagnosis of Alagille syndrome combined with hepatocellular carcinoma were analyzed in the child, and the pertinent literature were reviewed. Results The 6-year-old girl was admitted to hospital for repeated jaundice, and had a history of cardiac surgery. After admission, the patient was found to have a typical face look such as frontal bossing, sunken eyes, pointed chin and hypertrophy of nasal tip. Blood biochemistry showed intrahepatic cholestasis and increased alpha-fetoprotein. Abdominal ultrasonography revealed diffuse multiple solid lesions in the liver. And magnetic resonance imaging of the liver indicated that the liver was enlarged and multiple solid space occupying masses. Jagged 1 gene detection showed heterozygosis mutation of c.1205delC. Conclusion Alagllie syndrome complicated with hepatocellular carcinoma in childhood is extremely rare, and early diagnosis and long-term follow-up are of positive significance for its treatment and prognosis.