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Published in: Child's Nervous System 11/2020

Open Access 01-11-2020 | Lipoma | Review Article

Pai syndrome: a review

Authors: Francesca Olivero, Thomas Foiadelli, Sabino Luzzi, Gian Luigi Marseglia, Salvatore Savasta

Published in: Child's Nervous System | Issue 11/2020

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Abstract

Background

Pai syndrome is a rare idiopathic developmental condition characterized by midline craniofacial abnormalities. It was originally described as the presence of a median cleft lip, cutaneous polyps of the nasal mucosa and face, and midline lipomas of the central nervous system, mostly at the corpus callosum. However, there is great phenotypical variability and these characteristics are rarely all present at once.

Objective

The aim of this review was to analyze the available evidence regarding Pai syndrome in order to better delineate this rare condition and its features.

Methods

We analyzed the PubMed database using the words “Pai syndrome”, “frontonasal dysplasia”, “cleft lip”, “nasal polyp”, “facial polyp”, and “corpus callosum lipoma”, including reviews, case reports and case series.

Conclusion

There is no consensus regarding the diagnostic criteria of Pai syndrome up to date. It is usually diagnosed at birth, and its incidence is often underestimated. At present, the etiology of Pai syndrome is unknown. Several hypotheses regarding its genetic background have been made; however, there are not enough data yet to elucidate this point. An improved awareness could help in diagnosing the condition and performing the necessary investigations. These patients should have a multidisciplinary follow-up.
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Metadata
Title
Pai syndrome: a review
Authors
Francesca Olivero
Thomas Foiadelli
Sabino Luzzi
Gian Luigi Marseglia
Salvatore Savasta
Publication date
01-11-2020
Publisher
Springer Berlin Heidelberg
Keywords
Lipoma
Lipoma
Published in
Child's Nervous System / Issue 11/2020
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-020-04788-z

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