Wilson's disease is a rare autosomal recessive metabolic disease. The ATB7B gene mutation results in a defect of biliary copper excretion and subsequent accumulation of copper in the liver, brain, and sclera. The usual clinical signs of Wilson's disease include hepatitis, liver cirrhosis, movement disorder, or a Kayser-Fleisher ring in the sclera, but patients occasionally present with hepatic failure or hemolytic anemia. Under such metabolic conditions, free copper induce chronic hemolysis with oxidative damage via free radical production, and chronic hemolysis, in turn, can cause secondary pigment bililary stone formation. Herein we report a case of Wilson's disease associated with cholelithiasis in a young female.
Anemia, Hemolytic ; Brain ; Cholelithiasis ; Copper ; Hemolysis ; Hepatitis ; Hepatolenticular Degeneration ; Humans ; Liver ; Liver Cirrhosis ; Liver Failure ; Metabolic Diseases ; Movement Disorders ; Sclera

OBJECTIVE: To evaluate clinical-pathological aspects of uterine smooth-muscle tumors with a pathological diagnosis of uncertain malignant potential or leiomyomas with increased mitotic activity. METHODS: We reviewed the charts and pathological records of twenty seven patients with smooth muscle tumors of the uterus, with 5-9 mitotic figures per 10HPF (High power fields) and without cytological atypia or necrosis retrospectively. RESULTS: The patients were 29-60 (mean 41.8+/-6.8) years old and mean parity was 1.7+/-0.9. None of the patients had used any hormones preoperatively. The size of the myomatous tumors ranged from 2 to 23 cm (mean 7.1+/-4.6 cm). On gross examination all tumors appeared as typical leiomyomas. Twenty were intramural and 7 were submucous leiomyomas. The mitotic counts ranged 5-9/10 HPF (mean 6.0+/-1.2/10 HPF). Cytological atypia or necrosis were absent. The histological phase of the endometrium could be evaluated in 18 patients. Of these, ten had secretory-phase endometrium and proliferative endometrium was present in eight patients. Hysterectomy was performed in 20 patients with intramural leiomyoma, and myomectomy was in 7 patients under diagnosis of submucosal type. Postoperative follow-up periods ranged 5-94 months (mean 37.0+/-22.6 months). All patients were alive without evidence of recurrence or metastasis. CONCLUSION: Leiomyomas containing from five to nine mitotic figures per 10 HPF, without cellular atypia or necrosis, should be regarded as benign. Hysterectomy need not autonomically be done, as follow-up is a viable alternative. Myomectomy is an appropriate treatment, particularly in young patients interested in reproduction.
Diagnosis ; Endometrium ; Female ; Follow-Up Studies ; Humans ; Hysterectomy ; Leiomyoma* ; Necrosis ; Neoplasm Metastasis ; Parity ; Recurrence ; Reproduction ; Retrospective Studies ; Smooth Muscle Tumor ; Uterus