Clinical Analysis For40Cases Of Hepatolenticular Degeneration Patients With Classical Neurologic Impairments(with A Case Report)

OBJECTIVE:By studying the material of Hepatolenticular degeneration patients with symptoms of neurologic impairment as the main clinical manifestations, the clinical doctors can improve the understanding of the disease, reduce misdiagnosis and missed diagnosis and perform early intervention treatment in order to reduce the patient’s morbidity and mortality as well as improve the prognosis of disease.METHODS:40cases of HLD patients with neurologic impairment as the main clinical manifestations hospitalized in our hospital during a period of six months from2008-01to2014-06were retrospectively analyzed through digital retrieval software of Qilu Hospital of Shandong university. The general information, clinical manifestation, laboratory examination, auxiliary examination,diagnosis and treatment were arranged into stastic data and described.RESULTS:1.Of all the40patients,38cases were diagnosed with neurologic impairment as first symptom,2cases with liver damage as first symptom.The two syndrome of neurologic damage:three symptoms of extrapyramidal system diseases were limbs tremor (50%), dysarthria (40%) and walking instability (25%); three symptoms of mental disorders were lacking for cognition(30%), personality change (27.5%) and affective disorder (17.5%).2.Of all cases,97.5%were K-F ring positive,92.5%were copper blue blood protein positive,82.5%were abnormal with cerebral imaging examination results,62.5%were liver cirrhosis concomitant.3. The study found that patients with HLD were always representing special clinical manifestations such as seizures, sleep disorder, dizziness, headache, body dancing movements, etc. The misdiagnosis rate of HLD patients was as much as52.5%.4. The effective rate of Penicillamine treatment was95%.CONCLUSION:1. the clinical manifestations of patients with HLD are mainly extrapyramidal symptoms, mental disorders and liver damage. The mental symptom of HLD is diverse, mainly for the anxiety or depression even as the starting performance or the only symptoms sometimes.2. The brain lesion area of HLD patients mainly involved basal ganglia, brain stem and thalamus, and some special parts such as the ministry of corpus callosum, the cerebral cortex and cerebellum. The quantity and degree of damage had certain correlation with clinical manifestations.3. The misdiagnosis rate of HLD patients is high, when encountered adolescent patients with liver damage of unknown causes and extrapyramidal symptoms, even if the brain imaging did not see unusual, we should also pay attention and give the blood copper, urine copper and eye slit lamp examination as soon as possible in order to reduce missed diagnosis and misdiagnosis rate in case of delaying treatment.4. It’s effective to give penicillamine, zinc and low copper diet to most of the patients.