Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation

TL;DR

This case report follows a child with Börjeson-Forssman-Lehmann syndrome over four years, showing modest functional improvements through multidisciplinary rehabilitation.

Contribution

The study provides one of the few multi-year longitudinal assessments of functional outcomes in BFLS with rehabilitation insights.

Findings

The child showed gradual gains in head control, sitting, reaching, and social engagement despite severe developmental delays.

Multidisciplinary rehabilitation led to incremental improvements in motor function and interaction.

PEG feeding became necessary for nutritional safety while minimal oral stimulation was maintained.

Abstract

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the plant homeodomain finger protein 6 (PHF6) gene, typically associated with intellectual disability, hypotonia, dysmorphic features, endocrinological abnormalities, epilepsy, and global developmental impairment. Most published literature focuses on genetic and phenotypic characterization, with limited information regarding rehabilitation or long-term functional outcomes. We report the longitudinal follow-up of a male child with genetically confirmed BFLS, monitored from the age of 7 months (December 2021) to the age of 4.5 years (October 2025) at the time of manuscript submission, while receiving multidisciplinary rehabilitation. Interventions included physiotherapy targeting postural control and antigravity activation, occupational therapy addressing sensory regulation and purposeful reaching, speech and feeding therapy providing oral-motor stimulation and saliva management, structured caregiver training, and the prescription of assistive devices such as adaptive seating systems and a standing frame. Despite severe axial hypotonia and global developmental delay, the child achieved gradual but modest gains in head control, brief supported sitting, visually guided reaching, and social engagement. Feeding transitioned from mixed oral intake to percutaneous endoscopic gastrostomy (PEG) dependence for nutritional safety and adequacy, while minimal oral stimulation was maintained. A review of the literature confirms that rehabilitation trajectories in BFLS are rarely described and that no standardized guidelines exist. This case contributes one of the few multi-year functional follow-ups available and highlights that early, sustained, and individualized multidisciplinary rehabilitation can promote incremental improvements in motor function, interaction, even in severe presentations, with meaningful implications for quality of life.