Pfeiffer syndrome: a rare craniosynostosis syndrome - a case report

Abstract

Pfeiffer syndrome is a rare autosomal dominant disorder caused by FGFR1 or FGFR2 mutations, characterized by craniosynostosis, midfacial hypoplasia, broad thumbs and toes, and variable neurodevelopmental delay. Type I represents the milder form. In this case, a 15-month-old male presented with macrocephaly, global developmental delay, irritability, and vomiting. Examination revealed a tall head with tense fontanelles, proptosis, midfacial hypoplasia, and broad digits. CT imaging showed bicoronal craniosynostosis with hydrocephalus. Fundoscopy revealed disc edema. Genetic testing confirmed a heterozygous mutation in exon 7 of the FGFR2 gene. Management included acetazolamide and planned ventriculoperitoneal shunt insertion. The patient is under multidisciplinary follow-up for craniofacial reconstruction and neurodevelopmental support. This case highlights an atypical, late presentation of Pfeiffer syndrome Type I with raised intracranial pressure and hydrocephalus. Early diagnosis and intervention, supported by molecular testing, are essential to optimize outcomes.