[A family of von Recklinghausen's neurofibromatosis complicated by mononeuritis multiplex, bilateral acoustic neurinomas, and falx and spinal meningiomas].
A family of von Recklinghausen's disease complicated by multiple diverse primary brain tumors was reported. Case 1. The proband, born in 1923, was admitted to the Nagasaki University Hospital on March 11, 1974, for evaluation of headache and hearing loss. Neurological examination disclosed: decreased visual acuity on the right: bilateral choked discs; anisocoria, right pupil wider than left; right blepharoptosis; artificially fixed right eye; right facial palsy; markedly impaired hearing with negative vestibular responses to caloric test; paralysis of the right soft palate and vocal cord; atrophy of the right side of the tongue; right claw hand with positive Froment's sign; left drop foot; loss of deep reflexes on the left arm and legs; positive Babinski on the right. Nerve conduction studies revealed failure to evoke muscle action potential in response to electric nerve stimulation on the left ulnar and right superficial peroneal nerves. Needle electromyography showed no motor unit potentials in the left first dorsal interosseus and right anterior tibial muscles. Sensory nerve action potentials could not be evoked on any nerves tested. X-ray films showed enlargement of the internal auditory passages, falx tumor on brain scan and carotid angiography, and spinal tumor on myelography. At craniotomy, a 7 X 5.5 X 4 cm falx meningioma was removed. At suboccipital craniotomy performed five weeks later, right acoustic neurinoma measuring 1.5 cm in diameter was removed. Case 2. This relative, born in 1945, was the son of the proband. A spinal meningioma at C 7-T 1 was removed in 1957. However, he could not walk after operation and died of pneumonia two years later.(ABSTRACT TRUNCATED AT 250 WORDS)
D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008577:Meningeal Neoplasms / Q000235:genetics*; D008579:Meningioma / Q000235:genetics*; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009464:Neuroma, Acoustic / Q000235:genetics*; D010375:Pedigree; D011115:Polyneuropathies / Q000235:genetics*; D013120:Spinal Cord Neoplasms / Q000235:genetics; D013577:Syndrome