Late onset fulminant Wilson's disease:A case report and review of the literature

Wilson’s disease(WD)is an autosomal recessive inherited disorder of hepatic copper metabolism.WD can be present in different clinical conditions,with the most common ones being liver disease and neuropsychiatric disturbances.Most cases present symptoms at<40years of age.However,few reports exist in the literature on patients in whom the disease presented beyond this age.In this report,we present a case of late onset fulminant WD in a 58-year-old patient in whom the diagnosis was established clinically,by genetic analysis of the ATP7B gene disclosing rare mutations(G1099S and c.1707+3ins T)as well as by high hepatic copper content.We also reviewed the relevant literature.The diagnosis of WD with late onset presentation is easily overlooked.The diagnostic features and the geneticbackground in patients with late onset WD are not different from those in patients with early onset WD,except for the age.Effective treatments for this disorder that can be fatal are available and will prevent or reverse many manifestations if the disease is discovered early.

Ciliated hepatic foregut cyst with high intra-cystic carbohydrate antigen 19-9 level

A ciliated hepatic foregut cyst(CHFC)is a rare foregut developmental malformation usually diagnosed in adulthood.Five percent of reported cases of CHFC transform into squamous cell carcinoma.We report the presentation,evaluation,and surgical management of a symptomatic 45-year-old male found to have a 6.2 cm CHFC.Contrast tomography-guided fine-needle aspirationdemonstrated columnar,ciliated epithelium consistent with the histologic diagnosis of CHFC.The intracystic levels of carbohydrate antigen(CA)19-9 and carcinoembryonic antigen(CEA)were extremely high(978118U/m L and 973μg/L,respectively).Histologically,the wall of the cyst showed characteristic pseudopapillae lined with a ciliated stratified columnar epithelium,underlying smooth muscle,an outer fibrous layer and no atypia.Immunohistochemistry for CA19-9 and CEA was positive.This is the first case report of a CHFC in which levels of CA 19-9 and CEA were measured.Our findings suggest that a large sized multilocular cyst and elevated cyst CA19-9 and CEA levels do not exclude a CHFC from consideration in the diagnosis.CHFCs should be included in the differential diagnosis of hepatic lesions.Accurate diagnosis of a CHFC is necessary given its potential for malignant transformation,and surgical excision is recommended.