Reply:

N. Kadom; R.C. Castellino; D.S. Wolf

doi:10.3174/ajnr.A6062

We appreciate that Guerrini-Rousseau and colleagues are raising awareness for constitutional mismatch repair deficiency (CMMRD) syndrome and its phenotypical overlap with neurofibromatosis type 1 (NF-1). All 5 patients described in our article met clinical criteria for NF-1 (Table). None of the patients reported had confirmatory genetic testing; for children who meet the clinical criteria, genetic testing is not typically obtained.

View this table:

For a diagnosis of NF-1, at least 2 of the diagnostic criteria should be present³

CMMRD is rare (200 patients reported), and our patients had none of the other diagnostic criteria of CMMRD.¹ Café au lait spots are common (up to 97%) in CMMRD, but the other clinical manifestations of NF-1 are much less frequent.² Focal abnormal signal intensities have also been reported in CMMRD.

REFERENCES

1.↵
2. Wimmer K,
3. Kratz CP,
4. Vasen HF, et al
; EU-Consortium Care for CMMRD (C4CMMRD). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘care for CMMRD’ (C4CMMRD). J Med Genet 2014;51:355–65 doi:10.1136/jmedgenet-2014-102284 pmid:24737826
Abstract/FREE Full Text
2.↵
2. Wimmer K,
3. Rosenbaum T,
4. Messiaen L
. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1. Clin Genet 2017;91:507–19 doi:10.1111/cge.12904 pmid:27779754
CrossRef PubMed
3.
2. Friedman JM
. Neurofibromatosis 1. October 2, 1998, updated May 17, 2018. GeneReviews® [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK1109/. Accessed April 21, 2019.