Is neurofibromatosis type 1 diagnosed in every patient who presents with café au lait macules? A single-center experience

Year 2023, , 192 - 196, 31.05.2023

Nursah Eker Ayse Gulnur Tokuc Burcu Tas Tufan Emel Senay

https://doi.org/10.5472/marumj.1302264

Abstract

Objective: Neurofibromatosis type 1 (NF1) is the most common hereditary neurocutaneous syndrome. The most crucial morbidity of
NF1 is tumors that may develop. Cases with café-au-lait macules (CALMs) which is the first clinical finding of NF1, due to the anxiety
of its associated morbidity, are referred to the pediatric oncology clinic. In this study, we aimed to examine the characteristics of the
patients who applied to our outpatient clinic with CALMs.
Patients and Methods: The data of 157 pediatric patients who applied to our institution with the diagnosis of CALMs between June
2010 and November 2020 were analyzed retrospectively.
Results: There were 157 pediatric cases referred to us for CALMs. According to the National Institutes of Health (NIH) diagnostic
criteria, 109 (69.4%) cases were diagnosed with NF1. The diagnosis of 22 cases with NF1 were supported by genetic examination.
Optic glioma was detected in 39 (24.8%) cases. In 15 (38.4%) of cases with optic glioma, visual functions were also affected. Second
diagnostic criterion did not develop during the follow-up period, except for macules, in 48 cases (30.5%).
Conclusion: In cases with multiple CALMs, the probability of NF1 diagnosis is high, and close and regular follow-up is of great
importance in catching the development of the second clinical criterion and minimizing its morbidity.

Keywords

Café-au-lait macule, Neurofibromatosis, Children, Tumor

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