Literature DB >> 2518513

Type 2 neurofibromatosis with Lisch nodules.

N S Garretto1, S Ameriso, H A Molina, C Arberas, J Salvat, D Monteverde, R E Sica.   

Abstract

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.

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Year:  1989        PMID: 2518513

Source DB:  PubMed          Journal:  Neurofibromatosis        ISSN: 1010-5662


  3 in total

Review 1.  Clinical and genetic patterns of neurofibromatosis 1 and 2.

Authors:  N K Ragge
Journal:  Br J Ophthalmol       Date:  1993-10       Impact factor: 4.638

2.  Lens opacities in neurofibromatosis 2: further significant correlations.

Authors:  E A Bouzas; V Freidlin; D M Parry; R Eldridge; M I Kaiser-Kupfer
Journal:  Br J Ophthalmol       Date:  1993-06       Impact factor: 4.638

3.  Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2.

Authors:  Chi-Chao Chan; Christian A Koch; Muriel I Kaiser-Kupfer; Dilys M Parry; David H Gutmann; Zhengping Zhuang; Alexander O Vortmeyer
Journal:  J Pathol       Date:  2002-09       Impact factor: 7.996

  3 in total

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