Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient

Natalie Gengel; Ian Marshall

doi:10.4081/pr.2017.6810

Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient

Pediatr Rep. 2017 Jun 27;9(2):6810. doi: 10.4081/pr.2017.6810. eCollection 2017 Jun 26.

Authors

Natalie Gengel¹, Ian Marshall¹

Affiliation

¹ Department of Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

Abstract

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.

Keywords: Growth hormone; Neurofibromatosis type 1; Turner syndrome.