Schwannomatosis (SWN): diagnostic criteria
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Schwannomatosis (SWN): diagnostic criteria. These are anatomically distinct schwannomas. Fully referenced neurology checklist.
≥2 non-dermal schwannomas
- These are anatomically distinct schwannomas
- At least one must be histologically confirmed
1 non-dermal schwannoma or intracranial meningioma plus:
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First degree relative with schwannomatosis plus:
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Germline SMARCB1 or LZTR1 pathogenic variant plus one of:
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Absent features
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Synonym
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References
- Evans DG, Bowers NL, Tobi S, et al. Schwannomatosis: a genetic and epidemiological study. JNNP 2018; 89:1215-1219.
- Evans DG, Mason S, Huson SM, Ponder M, Harding AE, Strachan T. Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. JNNP 1997; 62:361-366.
- Li K, Liu SJ, Wang HB, Yin CY, Huang YS, Guo WT. Schwannomatosis patient who was followed up for fifteen years: a case report. World J Clin Cases 2022; 10:6981-6990.
