Prenatal presentation of pseudo-macroglossia caused by a tongue fibroma as the only sign of neurofibromatosis type 1

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Material und Methodik Case report Ergebnisse: In a 35-year-old gravida 3 para 2 with known neurofibromatosis type 1, it was noticed at 35+3 completed weeks postmenstrual age during a sonographic follow-up-scan that the tip of the tongue was visible outside the oral cavity for the duration of the examination. Even with the lips closed, the tip of the tongue was located in front of the dental arch, so that macroglossia was a possible cause ([ Figs. 1 ] [ 2 ]). Previously, a nuchal translucency just above the 95 th percentile and a single plexus cyst in the second trimester had been diagnosed. Abb. 1 Abb. 2 After premature rupture of membranes, a viable girl was born (36+2 weeks, 2985g). No apneas or lapses in oxygen saturation occurred and enteral feeding was possible without complications. Postnatally, a course, more echoic, partly hypoechoic distension (20 x 14 x 14 mm) was visible sonographically, compatible with a neurofibroma. Human genetics showed an identical pathogenic heterozygous mutation in the NF1 gene in both mother and child. Apart from a residual plexus cyst, no other abnormalities – in particular no other clinical manifestations of neurofibromatosis type 1 – were detected. A histological classification of the clinically probable lingual fibroma has not yet been performed. Knowing the postnatal findings, the asymmetric swelling can also be delineated on prenatal imaging (17x 11 mm), especially with high-contrast imaging ([ Fig. 3 ]). Abb. 3 Zusammenfassung: Isolated fetal pseudo-macroglossia due to a lingual fibroma may be an isolated prenatal finding of neurofibromatosis. Prenatal sonographic imaging is possible Publication History Article published online: 29 August 2023 © 2023. Thieme. All rights reserved. Georg Thieme Verlag Rüdigerstraße 14, 70469 Stuttgart, Germany

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