Nervous system involvement in Pfeiffer syndrome
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REVIEW ARTICLE
Nervous system involvement in Pfeiffer syndrome Ioannis N. Mavridis 1
&
Desiderio Rodrigues 1
Received: 14 June 2020 / Accepted: 16 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities’ abnormalities including syndactyly. The purpose of this article was to review the current knowledge regarding how PS affects the nervous system. Methodologically, we conducted a systematic review of the existing literature concerning involvement of the nervous system in PS. Multiple-suture synostosis is common, and it is the premature fusion and abnormal growth of the facial skeleton’s bones that cause the characteristic facial features of these patients. Brain abnormalities in PS can be primary or secondary. Primary anomalies are specific developmental brain defects including disorders of the white matter. Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malformation. Spinal anomalies in PS patients include fusion of vertebrae, “butterfly” vertebra, and sacrococcygeal extension. Different features have been observed in different types of this syndrome. Cloverleaf skull deformity characterizes PS type II. The main neurological abnormalities are mental retardation, learning difficulties, and seizures. The tricky neurological examination in severely affected patients makes difficult the early diagnosis of neurological and neurosurgical complications. Prenatal diagnosis of PS is possible either molecularly or by sonography, and the differential diagnosis includes other craniosynostosis syndromes. Knowing how PS affects the nervous system is important, not only for understanding its pathogenesis and determining its prognosis but also for the guidance of decision-making in the various critical steps of its management. The latter necessitates an experienced multidisciplinary team. Keywords Brain anomalies . Craniosynostosis . Fibroblast growth factor receptor . Intracranial hypertension . Neurological findings . Pfeiffer syndrome
Abbreviations CNS Central nervous system CSF Cerebrospinal fluid FGF Fibroblast growth factor FGFR Fibroblast growth factor receptor ICP Intracranial pressure L1CAM L1 cell adhesion molecule PS Pfeiffer syndrome
Introduction Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis * Ioannis N. Mavridis [email protected] 1
Department of Neurosurgery, Birmingham Children’s Hospital, Birmingham, West Midlands, UK
[1–3], midface hypoplasia, and extremities’ abnormalities that include syndactyly [1, 3]. It was described by Rudolf Pfeiffer in 1964. Other terms for PS are type V acrocephalosyndactyly [3, 4] and craniofacial–skeletal–dermatologic dysplasia [3]. PS is the second commonest acrocephalosyndactyly syndrome, following Apert syndrome [3]. It affects 1/100,000 neonates [1,
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