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.
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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.
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- © 2019 by American Journal of Neuroradiology