Type 2 neurofibromatosis with Lisch nodules.

Neurofibromatosis Pub Date : 1989-01-01
N S Garretto, S Ameriso, H A Molina, C Arberas, J Salvat, D Monteverde, R E Sica
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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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2型神经纤维瘤病伴利氏结节。
我们描述了一个病人,在6年的时间里,在不同的位置有几个颅肿瘤。临床及CT检查发现双侧听神经瘤、额叶脑膜瘤及脑干神经鞘瘤,术后病理证实。这些发现与皮肤神经纤维瘤和大的咖啡渍斑点有关,提示诊断为神经纤维瘤病(NF) 2型。然而,作为NF-1的特征,Lisch结节的存在使得该患者相当独特。患者亲属的临床结果表明该家族存在NF-1。也就是说,患者结合了两种NF的特征。
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