IPLab:Lab 5:Neurofibromatosis

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Clinical Summary[edit]

A 45-year-old divorced white male came to the emergency room with severe hepatic cirrhosis and aspiration pneumonia. Shortly after admission he developed cardiac arrhythmias and died. Significant past history included alcohol abuse, cirrhosis, and neurofibromatosis. He had no family history of neurofibromatosis, but his condition was diagnosed at age 17 when he developed neurofibromas along the lateral chest wall. There was no history of continued follow-up after this initial diagnosis.

The patient was covered with variably sized subcutaneous nodules ranging from 0.5 to 2.5 cm in diameter. Other significant findings included micronodular hepatic cirrhosis, ascites (500 ml), and splenomegaly.

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Cirrhosis is a liver disease characterized by necrosis, fibrosis, loss of normal liver architecture, and hyperplastic nodules.

In alcoholics, aspiration pneumonia is common--bacteria enter the lung via aspiration of gastric contents.

Arrhythmias are abnormal heart rhythms.

Ascities is the accumulation of fluid with in the abdominal cavity. There should be less than 30 ml of fluid in the peritoneal cavity.