18 CASE HEPATOLENTICULAR DEGENERATION CLLNICAL
MANIFESTATION
Wang FL, XU YH, Yu J
Chongqing Children’s Hospital, Chongqing, China
Objective: 18 patients with hepatolenticular
degeneration (HLD) have a variety of clinical manifestation, which can cause
mistakes in diagnosis.
Method: 18 patients with HLD were analyzed using
statistic describe in this study.
Results: The mean age was 10±2.5 years old. The primary symptoms showed
predominately in central nervous system (41.1%) and digestive (33.3%) system.
Above 60% of the patients have the symptoms in the both systems during the
course of development. Limb tremor and liver damages were the dominant
symptoms. Almost 100% patients with HLD showed the decreased absorbent
light degree of serum copper oxidase and ceruloplasmin, increased 24 hour
urine copper and K-Fleischer ring in the eyes. The treatment using
D-penicillamine was effective for 61.6% of the patients with HLD.
Conclusion: most children with HLD were school
age. The clinical manifestation was predominately found in nervous and
digestive system.The decreased 24 hour urine copper and K-Fletcher in the
eyes were the common and characteristic manifestation.