Type 2 neurofibromatosis with Lisch nodules.
We describe a patient who, throughout a period of 6 years, had several cranial tumors in different locations. Bilateral acoustic neuromas, frontal meningiomas and a brain stem schwannoma were found on clinical and CT scan examinations and were histologically confirmed after surgery. These findings were associated with cutaneous neurofibromas and large café au lait spots suggesting the diagnosis of neurofibromatosis (NF) type 2. However, the presence of Lisch nodules, which characterizes NF-1, makes this patient rather unique. Clinical findings in the patient's relatives suggested the existence of NF-1 within the family. That is, the patient combines features of both types of NF.
Garretto
N S
NS
Division of Neurology, Hospital J.M. Ramos Mejía, Facultad de Medicina, Universidad de Buenos Aires, Argentina.
Ameriso
S
S
Molina
H A
HA
Arberas
C
C
Salvat
J
J
Monteverde
D
D
Sica
R E
RE
D000293:Adolescent; D001932:Brain Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D007498:Iris / Q000473:pathology; D007621:Karyotyping; D008579:Meningioma / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D009464:Neuroma, Acoustic / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D010375:Pedigree; D014057:Tomography, X-Ray Computed