Familial syndrome with idiopathic nonarteriosclerotic
cerebral calcifications (FINCC), cirrhosis, pulmonary emphysema and berry
Berry Aneurysm; Cirrhosis; Pulmonary Emphysema; Cerebral
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 ...