Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wilson's disease (WD) is a disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase, ATP7B. The WD incidence is approximately 1/50-10,000 live births worldwide. Clinical manifestations of WD may be of any kind, but usually the symptoms of presentation are hepatic or neuropsychiatric, with a vast range of disturbances for both groups of symptoms. In children, however, clinical symptoms may be absent, making the diagnosis of the disease more difficult than in adults. Hepatic manifestations may range from asymptomatic minor biochemical disturbances, to acute, but mostly chronic, hepatitis, cirrhosis or severe fulminant hepatic failure. The spectrum of neurological manifestations is wide, including tremor, hypersalivation, Dysarthria, coordination defects, dystonia, ataxia. The spectrum of psychiatric manifestations is considerable and may include different disturbances such as altered working performance, anxiety, depression and antisocial behaviour. Kayser-Fleischer rings (KF) are present in 95% of patients with neurological symptoms and somewhat over half of those without neurological symptoms. In children presenting with liver disease, KF rings are usually absent. To obtain a more reliable diagnosis of WD, the Leipzig scoring system was proposed by an international consensus of experts. Wilson's disease copper overload is treated with chelating agents such as penicillamine, trientine and tetrathiomolybdate. Zinc is used mostly for mantainance therapy or the treatment of asymptomatic WD patients.
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PMID:Wilson's disease. 2479 99

Neurological manifestations are common in patients with decompensated cirrhosis. The majority of these patients show hepatic encephalopathy or chronic acquired (non-Wilsonian) hepatocerebral degeneration (CAHD). They characteristically present with dysarthria, ataxia, involuntary movements, and altered mental status. Neuroradiological examination in patients with hepatic encephalopathy often shows abnormal signals in multiple regions of the brain, such as the pallidum, putamen, caudate nucleus, hemispheric white matter, and ventral midbrain. The pathogenesis of hepatic encephalopathy and CAHD is poorly understood and the response to conventional therapies is often poor. We report a male patient with cirrhosis of unknown cause, who developed slowly progressive cerebellar truncal and limb ataxia and slurred speech. Magnetic resonance imaging (MRI) showed focal T2 hyperintensity in bilateral dentate nuclei and middle cerebellar peduncles (MCPs). After treatment by obliteration of the portosystemic shunt, clinical manifestations and MRI abnormalities were dramatically improved. He was followed for six years until he died of uncontrollable bleeding due to hepatocellular carcinoma. At the last examination 9 months before death, he showed no apparent aggravation of neurological symptoms, and no abnormal signal intensities in the MCPs and supratentorial compartment. The clinical course and changes of brain MRI findings of this case are extremely rare, suggesting that obliteration of the portosystemic shunt may be effective for CAHD over long term.
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PMID:Long-term clinical and radiological improvement of chronic acquired hepatocerebral degeneration after obliteration of portosystemic shunt: Report of a case. 2517 93

Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait. She underwent successful transplant from a hepatic and surgical standpoint, but her postoperative course was marked by protracted mutism, hypophonia, and fluctuating akinesia and immobility that did not respond promptly to withdrawal of calcineurin inhibitors or pramipexole but did respond robustly to amantadine. At 9 months posttransplant, there was marked neurologic improvement, and, at 18 months, she exhibited subtle memory and organizational difficulties but was fully ambulatory and otherwise completely functional. Our experience suggests that even patients with severe neurologic Wilson disease may recover after transplant, albeit slowly, demonstrating the need for a multidisciplinary approach, including pre- and posttransplant neurologic and neuropsychiatric consultations.
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PMID:Liver Transplant Can Resolve Severe Neuropsychiatric Manifestations of Wilson Disease: A Case Report. 2791 67

Cerebral cavernous malformations are common vascular anomalies consisting of a cluster of capillaries without intervening brain tissue.1 A variety of approaches for resection have been undertaken,2 and a handful of case reports have described the endoscopic, endonasal, transclival approach.3 We present a case of a 51-yr-old woman with lupus and hepatitis B-associated cirrhosis who presented with diplopia, dysphagia, and ataxia. She had a left abducens nerve palsy and magnetic resonance imaging (MRI) showed a left pontine cavernous malformation. After a repeat hemorrhage, she consented to surgical resection. The lesion appeared to come to the medial pontine pial surface. Tractography indicated a rightward displacement of the left corticospinal tract. Therefore, an endoscopic, transnasal, transclival approach was chosen. A lumbar drain was placed preoperatively. The clivus and ventral petrous bone were drilled using the vidian canal to help identify the anterior genu of the petrous carotid artery. The clival dura was opened, revealing the abducens nerve exiting the ventral pons. The cavernoma was visible on the surface lateral to the nerve. It was removed using blunt dissection and the remaining cavity inspected. The skull base was reconstructed using an abdominal dermal-fat graft and Alloderm covered by a nasoseptal flap. Postoperatively she had transient swallowing difficulty. The lumbar drain was kept open for 5 d. Cerebrospinal fluid (CSF) leak was ruled out using an intrathecal fluorescein injection. She was discharged home, but presented 2 wk postoperatively with aseptic meningitis, which was treated supportively. Postoperative imaging did not show residual cavernoma.
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PMID:Transclival Approach for Resection of a Pontine Cavernous Malformation: 2-Dimensional Operative Video. 3204 6


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