[Type 2 neurofibromatosis without acoustic neuroma].
Bilateral vestibular schwannomas (VSs) are the hallmark of neurofibromatosis type 2 and the crucial criteria for the diagnosis of this autosomal dominant disorder according to the criteria of the National Institutes of Health Consensus Statement. We describe three patients without VSs aged 47, 52 and 69 years, in whom a NF2 gene carrier status was diagnosed by spinal tumors, a cataract and schwannoma of cranial and peripheral nerves. In one case the diagnosis was ascertained by mutation analysis, which revealed a 163bp deletion in the NF2 cDNA, and by the fact that two daughters had the same deletion and NF2 according to the NIH criteria. Our finding suggests that patients with spinal tumors, multiple brain tumors, associated neurinomas or cataract might be carriers of a mutated NF2-gene. The study suggests that the NIH criteria are too restrictive, since NF2 seems to show up for a broader spectrum of phenotypes.
Mautner
V F
VF
Neurologische Abteilung, Allgemeines Krankenhaus Ochsenzoll, Hamburg.
Lindenau
M
M
Köppen
J
J
Hazim
W
W
Kluwe
L
L
D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics*; D006580:Genetic Carrier Screening; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D009464:Neuroma, Acoustic / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
D005819:Genetic Markers
Neurofibromatose Typ 2 ohne Akustikusneurinome.