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At a glance

A familial syndrome with idiopathic, non-arteriosclerotic cerebral calcifications (FINCC), liver cirrhosis, pulmonary emphysema, and berry cerebral aneurysms.

Synonym

Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcifications.

Incidence

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

Genetic inheritance

In the reported family, FINCC with the additional features of cirrhosis, pulmonary emphysema, and berry cerebral aneurysms was thought to result from a complex pleiotropic Mendelian mutation with either autosomal or X-linked recessive transmission. The parents were not consanguineous, the family history unremarkable, and two other siblings (a girl and a boy) were normal.

Pathophysiology

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

Diagnosis

Made based on the clinical features consistent with the syndrome. A CT- or MRI-scan 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 x-ray may be helpful.

Clinical aspects

Symmetric, non-arteriosclerotic cerebral vascular and non-vascular calcifications may occur in the cortical and subcortical areas, dentate nucleus, basal ganglia, and the thalamus. Cerebral berry aneurysms affect most commonly the middle cerebral artery (that ruptured in two patients), and the anterior and posterior communicating arteries. Liver abnormalities present as hepatomegaly or cirrhosis with portal hypertension, hepatic failure, ascites, hepatic encephalopathy, clotting disorder, and may lead to splenomegaly esophageal varices. Severe pulmonary emphysema with bleb and cyst formation and clubbing of the fingers was present in all patients. The emphysema was bilateral and more severe in the periphery of the lungs. Additional features may include short stature, delayed motor development with ataxia and dysmetria, seizures starting in infancy, and dysarthria. Mental retardation was present in one of the three siblings. Of the three reported cases, one died of disseminated intravascular coagulation and sepsis in the context of portal hypertension and liver failure at 3 years of age; the other two died from subarachnoid hemorrhage and encephalomalacia secondary to ruptured cerebral aneurysms at the age of 8 and 13 years, respectively.

Precautions before anesthesia

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 electrolytes, creatinine, urea, and glucose. Evaluate pulmonary function (chest x-ray, lung function tests, arterial blood gas analysis), hepatic function (liver function tests, coagulation profile, liver biopsy), neurologic investigations (diagnostic imaging with cerebral angiography, electroencephalography), and cardiovascular status (diuretic therapy for liver failure may ...

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