Cerebral Aneurysm-Cirrhosis Syndrome

Familial syndrome with idiopathic nonarteriosclerotic cerebral calcifications (FINCC), cirrhosis, pulmonary emphysema and berry cerebral aneurysms.

Berry Aneurysm; Cirrhosis; Pulmonary Emphysema; Cerebral Calcification.

Unknown, but extremely rare. Only one case report of three affected male siblings has been published.

In this family, FINCC with the additional features of cirrhosis, pulmonary emphysema, and berry cerebral aneurysms was thought to result from a complex pleiotropic mendelian mutation, either autosomal or X-linked recessive in nature. The parents were not consanguineous, and the family history was unremarkable.

Basic pathogenesis remains unknown, but an inborn error of metabolism may be responsible.

Made based on the clinical features consistent with the syndrome. Computed tomography scanning or magnetic resonance imaging may reveal berry aneurysms of cerebral vessels (cerebral angiography), cerebral calcifications, and pulmonary bullae and cysts. A liver biopsy may show fatty degeneration and portal fibrosis preceding periportal and micronodular cirrhosis. Lung function tests and conventional chest radiographs may be helpful.

Include nonarteriosclerotic cerebral calcifications symmetrically involving the cortical and subcortical areas, the dentate nucleus, the basal ganglia and the thalamus, cerebral berry aneurysms (most commonly of the middle cerebral, anterior and posterior communicating arteries), liver abnormalities (cirrhosis with portal hypertension, hepatic failure, hepatic encephalopathy, hepatomegaly), clotting abnormalities, severe bilateral pulmonary emphysema, short stature, seizures starting in infancy, dysarthria, dysmetria, delayed motor development, and incoordination. Mental retardation was present in one of the three siblings. Of the three reported cases, one died of liver failure and portal hypertension at 3 years of age; the other two died secondary to ruptured cerebral aneurysms at ages 8 and 13 years, respectively.

Obtain a thorough clinical history and examination to evaluate the extent of systemic involvement of the condition, with particular emphasis on the neurologic, hepatic, pulmonary, and hematologic systems. Preoperative blood work should include a complete blood count and serum concentrations of creatinine, urea, electrolytes, and blood glucose. Evaluate pulmonary function (chest radiographs, spirometry, gas diffusion studies, arterial blood gas analysis), hepatic function (liver function tests, coagulation profile, liver biopsy, portal hypertension), neurologic investigations (diagnostic imaging with cerebral angiography, electroencephalography), and cardiovascular status (diuretic therapy in liver failure may lead to intravascular volume depletion).

Liver failure, cirrhosis, and portal hypertension are all associated with a high risk for general anesthesia and surgery. Regional anesthesia may be an appropriate technique if significant respiratory and hepatic disease is present, provided the patient is cooperative and coagulation and platelet count are within acceptable ranges. Special considerations for anesthesia in liver failure include a rapid sequence induction secondary to decreased gastric emptying and encephalopathy, altered pharmacokinetics and pharmacodynamics of most anesthetic drugs, and avoidance of systemic hypotension (associated with a deterioration in liver function). Provide renal protection (hepatorenal syndrome and intravascular volume depletion are not uncommon), controlled ventilation (abnormal gas exchange, basilar atelectasis, and intrapulmonary arteriovenous shunting are frequent), treat coagulopathy (vitamin K, fresh-frozen plasma, platelets), and administer a dextrose-containing infusion (secondary to decreased glycogen reserves). Preventing excessive intraarterial pressure changes during induction and laryngoscopy is essential to avoid potential rupture or rebleeding of intracranial aneurysms. Intravenous induction (thiopentone or propofol) with neuromuscular blockers and a liberal dose of opioids and lidocaine is recommended to obtund the reflex response to intubation. Controlled ventilation to adjusted to yield normocapnia or mild hypocapnia is recommended, and maintenance of anesthesia is possible with either isoflurane (<1 minimum alveolar concentration) or a target controlled infusion with propofol. Neutral and slight head-up positioning should help cerebral venous drainage. Sudden rises and falls in intracranial pressure should be avoided, and every effort should be made to maintain cerebral perfusion pressure within the physiologic (or preoperative) range, particularly if cerebral autoregulation is compromised.

Avoid potentially hepatotoxic agents (e.g., halothane). Be careful with agents partially or completely metabolized and excreted by the liver. Elective patients with a prolonged prothrombin time should receive vitamin K. All preoperative medications should be continued (e.g., anticonvulsants, bronchodilators, steroids). Avoid nitrous oxide in the presence of marked pulmonary emphysema.