The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report

This case report describes a 2.5-year-old Egyptian boy with neurofibromatosis type 1 (NF1) who presented with a rare combination of congenital anomalies, including bilateral congenital glaucoma, giant congenital melanocytic nevi (GCMN), alopecia, and hypospadias. The child also exhibited developmental delay, hypotonia, and multiple spinal neurofibromas. Genetic analysis revealed a heterozygous missense variant in the NF1 gene. The report highlights the importance of considering NF1 in newborns with these congenital anomalies, as typical diagnostic features like café-au-lait macules may not be evident in early infancy.