This 45-year-old divorced white male came to the emergency room with severe hepatic cirrhosisCirrhosis is a liver disease characterized by necrosis, fibrosis, loss of normal liver architecture, and hyperplastic nodules. and aspiration pneumoniaIn alcoholics, aspiration pneumonia is common--bacteria enter the lung via aspiration of gastric contents.. Shortly after admission he developed cardiac arrhythmiasArrhythmias are abnormal heart rhythms. and died. Significant past history included alcohol abuse, cirrhosisCirrhosis is a liver disease characterized by necrosis, fibrosis, loss of normal liver architecture, and hyperplastic nodules., 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 cirrhosisCirrhosis is a liver disease characterized by necrosis, fibrosis, loss of normal liver architecture, and hyperplastic nodules. (liver weight: 1760 gramsA normal liver weighs 1650 grams (range: 1500 to 1800 grams).), ascites (500 ml)Ascities is the accumulation of fluid with in the abdominal cavity. There should be less than 30 ml of fluid in the peritoneal cavity., and splenomegaly (weight260 grams)Splenomegaly means enlargement of the spleen. The normal spleen weighs 155 grams.: 260 grams).
This is type 1 neurofibromatosis (von Recklinghausen disease). There is no eighth nerve involvement as is seen in Type 2 or acoustic neurofibromatosis.
- What is the significance of no positive family history in this patient with type 1 neurofibromatosis?
Neurofibromatosis type 1 is an autosomal dominant disorders with a frequency of almost 1 in 3000. The gene that causes neurofibromatosis type 1 has been mapped to chromosome 17q11. This gene encodes a protein called neurofibromin, which down-regulates the function of the p21 ras oncoprotein. Approximately 50% of affected patients have a definite family history consistent with autosomal dominant transmission, however, the remaining cases appear to be caused by new mutations. This case may represent a new mutation.
Although protean in its clinical expression, patients with neurofibromatosis usually have multiple neural tumors all over the body, numerous pigmented skin lesions (”café au lait“ spots), and pigmented iris hamartomas (also called Lisch nodules). Other common clinical manifestations include skeletal lesions (scoliosis, bone cysts, thinning of the cortex of long bones) and mild intellectual impairment.
- eMedicine Medical Library: Type 1 Neurofibromatosis
- eMedicine Medical Library: Dermatologic Manifestations of Neurofibromatosis Type 1
- Merck Manual: Neurofibromatosis
- Neurofibromatosis: MedlinePlus
- Kiliç S, Tezcan I, Sanal O, Ersoy F. Common variable immunodeficiency in a patient with neurofibromatosis. Pediatr Int 2001 Dec;43(6):691-3.