Neurofibromatosis Type 2 (NF2)

NF2 is a genetically determined disorder which affects one in 40,000 individuals worldwide. It is clinically distinct from NF1 and is ten times less common. Individuals with NF2 will not develop NF1, and those people born with NF1 will not progress to NF2.

One of the frustrating aspects of NF2 is its variation from individual to individual. In this regard, the medical problems and the time course of NF2 may be different, even in members of the same family.

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Diagnosis of NF2

Neurofibromatosis type 2 (NF2) is sometimes more difficult to diagnose, since most of the features of this disorder may require imaging by CT or MRI scan to detect.

Unlike NF1, people with NF2 have few skin abnormalities and do not typically have café-au-lait macules, freckling or Lisch nodules. Most of the signs of NF2 are tumors that grow on nerves and in the brain.

The diagnosis of NF2 should be suspected when an individual has the following findings:

• One vestibular schwannoma in a person less than 30 years of age in combination with either a meningioma, schwannoma, glioma or juvenile cataracts
• More than one meningioma in a person less than 30 years old with a vestibular schwannoma
• More than one meningioma in a person with a glioma, schwannoma or juvenile cataracts

A diagnosis of NF2 is made when an individual has the following findings:

• Schwannomas on both 8th cranial (vestibular) nerves OR
• A parent, sibling or child with NF2 PLUS
• One vestibular schwannoma in a person less than 30 years of age, OR
• Any two of the following: meningioma, glioma, schwannoma, juvenile cataracts

Common symptoms of NF2

In general, most individuals with NF2 experience their first symptoms during the late teenage years or in their early 20s. A few people develop symptoms in childhood and some do not have problems until their 40s or 50s.

Affected individuals develop a variety of symptoms, including:

• Nervous system tumors: vestibular schwannomas, schwannomas, meningiomas, other tumors
• Cataracts

Many nervous system tumors are slow-growing, but may require treatment at some point. Individuals with NF2 should be evaluated at least annually for tumors, hearing and cataract formation. The optimal and recommended approach involves evaluation by a multidisciplinary team of specialists who can provide a diverse and expanded-level of expertise on this condition.