Van Maldergem syndrome-1 in a patient with central precocious puberty: A case report

Van Maldergem syndrome-1 (VMS-1; OMIM #601390) is a multisystem genetic disease characterized by intellectual disability, craniofacial deformities, skeletal anomalies, and/or other variable malformations. Few cases have been reported to date, posing challenges to the diagnosis and management of this condition.

A 7-year-old female Chinese patient presented with a series of developmental defects, including precocious puberty, mild intellectual disability, unusual craniofacial features, mild shortening of the fourth metacarpal bone, and clumsy movements with poor coordination.

The patient was diagnosed with central precocious puberty and VMS-1 based on clinical symptoms and genetic results.

The treatment for precocious puberty involved monthly administration of leuprorelin acetate microspheres (Enantone®). Neurodevelopmental deficits were managed with regular follow-ups due to the lack of established therapeutic protocols.

Over the 2-year follow-up, the precocious pubertal development was successfully controlled, and the neurodevelopmental deficits remained stable without progression.

This case highlights the hallmark clinical features of VMS-1, including neurodevelopmental impairment and craniofacial anomalies, while also expanding the known genetic spectrum of the disorder. These findings provide valuable insights into the diagnosis and management of this extremely rare genetic condition.