Síndrome de Pfeiffer tipo 2: relato de um caso

Abstract

OBJECTIVE: Report a rare case of Pfeiffer’s syndrome type 2 in a male newborn. CASE REPORT: Newborn male, preterm term of 33 weeks and 2 days, serial ultrasound suggesting presence of craniosynostosis and other abnormalities such as irregular and narrow vertebrae, pachygium, and ventriculomegaly in the second trimester, being confirmed later with magnetic resonance imaging. There was no need for obstetrical medications and maneuvers for the birth. Apgar score 4, heart rate less than 100bpm, precarious respiratory evolution, orotracheal intubation, umbilical venous catheterization and orogastric tube were required. With 2 hours of life presented bradycardia along with hemodynamic instability evolved to a cardiorespiratory arrest with no success in cardiopulmonary resuscitation. He passed away 3 hours after birth. COMMENTS: Pfeiffer’s syndrome is rare, being type 2 the most lethal because it has a clover-shaped skull. It is associated with the genetic mutations in fibroblast growth receptors FGFR1, FGFR2, and FGFR3. Premature fusion of the cranial sutures prevents normal skull growth by interfering with the shape of the face and head. The prognosis is associated with the severity of the anomalies and the early diagnosis through the gestational and family history, through detailed physical examinations and images (three-dimensional ultrasonography and MRI). The patient should have multidisciplinary treatment at birth.