摘要
To the Editor: A 19-year-old man was admitted to the hospital presenting with “skin and sclera yellow staining for 18 years, accompanied by growth retardation.” The patient developed scleral yellowing at 4 months of age, at which time he was diagnosed as having Wilson's disease (WD) and received symptomatic treatment for liver protection. At 9 years of age the patient developed a pale nail bed, clubbing of the fingers and toes, and accompanying growth retardation. A spontaneous fracture of the right upper limb and left pubic bone occurred at 16 years of age. At 17 years of age the patient developed neuropsychiatric symptoms consisting of fatigue, personality changes, mental retardation, numbness, epileptic seizures, and constipation. He required daily glycerin to assist with defecation. At 5 months prior to admission, obvious sternal malformations and anterior sternal processes were present. Family history revealed that his parents were close relatives (cousin-sister relationship) and the patient's cousin died as a result of WD at age of 12 years. The patient's younger brother was 3 years old and also had a history of WD.
