[Neurofibromatosis associated with multiple intracranial vascular lesions: stenosis of the internal carotid artery and peripheral aneurysm of the Heubner's artery; report of a case]

Abstract

Neurofibromatosis (NF), or von Recklinghausen's disease, is an autosomal dominant disorder of both mesoderm and ectoderm dysplasia commonly characterized by numerous neurofibromas and cafe-au-lait spots. However, cerebrovascular diseases associated with NF are rare, and among them occlusive vascular lesions have already been reported in the literature. It is postulated that the pathogenesis of the associated vascular lesions may be attributable to the proliferation of Schwann cells and the subsequent degeneration in the vessel wall. We documented here an uncommon case of NF associated with massive intracerebral hemorrhage caused by an aneurysm at the distal portion of the dilated Heubner's artery. Intracranial hemorrhage in association with NF is reviewed in the literature, and the clinical profiles, type and origin of bleeding, and associated occlusive vascular lesions are discussed. A 55-year-old man was admitted to our hospital on January 12, 1994, after he had suddenly become comatose. The patient was known to be affected by NF from both the family and past histories. On admission, the patient demonstrated a decerebrate posture in response to painful stimuli, and was then graded as 200 according to the Japan Coma Scale (JCS). CT scan showed a significant amount of blood clots present at the base of the right frontal lobe and in the lateral and third ventricles. After bilateral ventriculostomies were carried out for continuous drainage of bloody cerebrospinal fluid, the patient continued to regain partial consciousness to the level of JCS grade 3 until the seventh day, when he again suddenly deteriorated and became comatose.(ABSTRACT TRUNCATED AT 250 WORDS)