Neurofibromatosis type 1 associated with multiple internal and external anterior abdominal wall defects: A case report

Abstract

Neurofibromatosis type 1 is a relatively common autosomal dominantly inherited genetic disorder. It is characterised by variable clinical manifestations, including café-au-lait spots, axillary or inguinal freckling, cutaneous neurofibromas, plexiform neurofibroma, bony lesions, optic glioma, and iris Lisch nodules, which constitute the clinical diagnostic criteria. In addition, a wide range of systemic abnormalities, including skeletal deformities, cardiovascular anomalies, neurocognitive deficits, as well as nervous system and non-nervous system tumours, have been described in patients with NF1. We present a previously unreported systemic association in NF 1 in an adolescent male: the presence of bilateral congenital hydrocele, divarication of rectus abdominis muscles and umbilical hernia, all external and internal defects of the anterior abdominal wall.