Pfeiffer syndrome

Abstract

Dear Sir, Pfeiffer syndrome is a rare syndrome of primary craniosynostosis presenting usually with microcephaly, turricephaly, brachycephaly, medially deviated big toes and partial syndactyly of hands and feet.[1 2] The condition results from mutations in fibroblast growth factor receptor gene (FGFR1 or FGFR2).[1 2] We report a case of a 7-year-old child who was diagnosed as having Pfeiffer syndrome based on the clinical features and neuro imaging. A 7-year-old male child born of second degree consanguineous marriage presented with acute gastroenteritis to the pediatric ward of a tertiary care teaching hospital. On examination child was found to have microcephaly, abnormal shaped skull (cone shape), proptosis of both eyes, brachycephaly, and maxillary hypoplasia [Figure 1]. In addition to that, child also had medially deviated big toe of both feet and partial soft tissue syndactyly of 2nd and 3rd toe [Figure 2]. Child's school performance and development was normal. Other anthropometric features were appropriate for age and sex of the child. A computed tomography scan of the brain was advised, which was suggestive of primary craniosynostosis with no hydrocephalus. Detail family history of child suggested that all members of family from the paternal side (grandfather, father, one uncle) had partial syndactyly of 2nd and 3rd toe of both feet. However, in no family members microcephaly, proptosis or any skull deformity was noted. Figure 1 Ocular proptosis, turricephaly, maxillary hypoplasia in Pfeiffer syndrome Figure 2 Hallux valgus (medially deviated big toe) and partial syndactyly of 2nd and 3rd toe in Pfeiffer syndrome Based on this clinical features and investigation, child was diagnosed as Pfeiffer syndrome type 1. Neurosurgical opinion was taken; parents and the whole family were advised for genetic counseling and further testing. Child was discharged after child improved from presenting complains of acute gastroenteritis. Pfeiffer syndrome is a rare syndrome of primary craniosynostosis, hallux valgus and partial syndactyly of hands and feet. Other features may be found such as hydrocephalus, ocular proptosis, other skeletal deformities of hand and feet and slow development.[1 2] Cohen has described three subtype of Pfieffer syndrome on the basis of clinical features and severity.[1] Type 1 or classic Pfeiffer syndrome patient has mild manifestations such as brachycephaly, midface hypoplasia, finger, and toe abnormalities. It is associated with normal intelligence and generally good prognosis. Type 2 Pfeiffer syndrome patients have cloverleaf skull, extreme proptosis and major finger and toe abnormalities, developmental delay and neurological complications. Type 3 Pfeiffer syndrome is like type 2, but without cloverleaf skull. In Pfeiffer types 2 and 3, there may be choanal anomalies, laryngotracheal abnormalities, hydrocephalus, seizures, sacrococcygeal anomalies, and increased risk of death.[1 2] Pfeiffer syndrome affects about 1 in 100,000 population.[2] Only three cases have been reported from India so far.[3 4 5] The syndrome is a result of mutations in the FGFR1 or FGFR2 genes.[2] Antenatal diagnosis of Pfeiffer syndrome can be offered on antenatal sonographic findings like craniosynostosis, proptosis, and broad thumb. If the mutation is diagnosed in the index case, molecular diagnosis can be offered for identifying recurrence. Molecular genetic testing is important to confirm the diagnosis. Management includes craniotomy for craniosynostosis. Moreover, surgery can be performed to reduce the exophthalmos and maxillary hypoplasia in very severe cases.[2]