Physiotherapeutic intervention in a girl with Pfeiffer syndrome. Case Report

Intervención fisioterapéutica en una niña con síndrome de Pfeiffer. Reporte de caso


Introduction. Pfeiffer syndrome is an autosomal dominant congenital disorder that affects 1 in 100,000 live births. Variable malformations, developmental delay, and neurological complications occur.

The objective of this case report is to describe the physical therapy intervention on a girl with type 2 Pfeiffer syndrome, which was based on the concept of training focused on specific tasks, the analysis of changes in postural control, and education and empowerment to parents.

Case presentation. A girl who began physiotherapy treatment with a frequency of two weekly sessions, from 6 months to two years, when she managed to walk independently for eight consecutive steps. At 12 months, she achieved independent sitting, at 18 months the girl was in the 50th percentile according to the Alberta scale, and at 24 months she was able to take eight continuous steps without assistance and perform bimanual reaching and manipulation with modified objects.

Conclusion. Task-based training and a patient and family-centered approach allowed a girl with type 2 Pfeiffer syndrome, with deficiencies in musculoskeletal and movement-related bodily functions and structures, to ambulate independently for eight steps at two years and to be interested in manipulating and exploring her immediate environment. Physiotherapy intervention can benefit children with Pfeiffer syndrome or similar syndromes, who evolve with deficiencies in their development, improving their quality of life.


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Ana Marcela Bolaños Roldán


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