Spontaneous cerebrospinal fluid rhinorrhea in a patient with Pallister–Hall syndrome
Pallister-Hall syndrome (PHS) is extremely rare autosomal dominant disorder with typical clinical features such as presence of polydactyly, hypothalamic hamartoma, bifid epiglottis, anal, renal, genitourinary and pulmonary abnormalities, mainly located in the midline of the body. Spontaneous cerebro...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
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London Academic Publishing
2019-09-01
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Series: | Romanian Neurosurgery |
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Online Access: | https://www.journals.lapub.co.uk/index.php/roneurosurgery/article/view/1184 |
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author | Milicevic Mihajlo Aleksic Vuk Ilic Rosanda Scepanovic Vuk Stanimirovic Aleksandar Paunovic Aleksandra Milic Marina Nedeljkovic Zarko Matteo Sacco Grujicic Danica |
author_facet | Milicevic Mihajlo Aleksic Vuk Ilic Rosanda Scepanovic Vuk Stanimirovic Aleksandar Paunovic Aleksandra Milic Marina Nedeljkovic Zarko Matteo Sacco Grujicic Danica |
author_sort | Milicevic Mihajlo |
collection | DOAJ |
description | Pallister-Hall syndrome (PHS) is extremely rare autosomal dominant disorder with typical clinical features such as presence of polydactyly, hypothalamic hamartoma, bifid epiglottis, anal, renal, genitourinary and pulmonary abnormalities, mainly located in the midline of the body. Spontaneous cerebrospinal fluid (CSF) rhinorrhea is also a rare condition, and it is used to describe nasal discharge of CSF unrelated to previous trauma, localized tumour, surgery, or previous radiation therapy. The exact cause is not yet fully understood.
We report a case of adult female patient previously diagnosed with PHS and late onset of spontaneous nasal liquorrhea, due to defect in the anterior skull base. Although it can be incidental finding, we believe that described defect in the body midline can be another presentation of congenital craniofacial abnormality which are common in PHS. |
first_indexed | 2024-12-22T22:15:39Z |
format | Article |
id | doaj.art-a46542590c864e81893db73edb5a621c |
institution | Directory Open Access Journal |
issn | 1220-8841 2344-4959 |
language | English |
last_indexed | 2024-12-22T22:15:39Z |
publishDate | 2019-09-01 |
publisher | London Academic Publishing |
record_format | Article |
series | Romanian Neurosurgery |
spelling | doaj.art-a46542590c864e81893db73edb5a621c2022-12-21T18:10:47ZengLondon Academic PublishingRomanian Neurosurgery1220-88412344-49592019-09-0133310.33962/roneuro-2019-051Spontaneous cerebrospinal fluid rhinorrhea in a patient with Pallister–Hall syndromeMilicevic MihajloAleksic VukIlic RosandaScepanovic VukStanimirovic AleksandarPaunovic AleksandraMilic MarinaNedeljkovic ZarkoMatteo SaccoGrujicic DanicaPallister-Hall syndrome (PHS) is extremely rare autosomal dominant disorder with typical clinical features such as presence of polydactyly, hypothalamic hamartoma, bifid epiglottis, anal, renal, genitourinary and pulmonary abnormalities, mainly located in the midline of the body. Spontaneous cerebrospinal fluid (CSF) rhinorrhea is also a rare condition, and it is used to describe nasal discharge of CSF unrelated to previous trauma, localized tumour, surgery, or previous radiation therapy. The exact cause is not yet fully understood. We report a case of adult female patient previously diagnosed with PHS and late onset of spontaneous nasal liquorrhea, due to defect in the anterior skull base. Although it can be incidental finding, we believe that described defect in the body midline can be another presentation of congenital craniofacial abnormality which are common in PHS.https://www.journals.lapub.co.uk/index.php/roneurosurgery/article/view/1184Pallister-Hall syndromeSpontaneous CSF rhinorrheanasal liquorrhea |
spellingShingle | Milicevic Mihajlo Aleksic Vuk Ilic Rosanda Scepanovic Vuk Stanimirovic Aleksandar Paunovic Aleksandra Milic Marina Nedeljkovic Zarko Matteo Sacco Grujicic Danica Spontaneous cerebrospinal fluid rhinorrhea in a patient with Pallister–Hall syndrome Romanian Neurosurgery Pallister-Hall syndrome Spontaneous CSF rhinorrhea nasal liquorrhea |
title | Spontaneous cerebrospinal fluid rhinorrhea in a patient with Pallister–Hall syndrome |
title_full | Spontaneous cerebrospinal fluid rhinorrhea in a patient with Pallister–Hall syndrome |
title_fullStr | Spontaneous cerebrospinal fluid rhinorrhea in a patient with Pallister–Hall syndrome |
title_full_unstemmed | Spontaneous cerebrospinal fluid rhinorrhea in a patient with Pallister–Hall syndrome |
title_short | Spontaneous cerebrospinal fluid rhinorrhea in a patient with Pallister–Hall syndrome |
title_sort | spontaneous cerebrospinal fluid rhinorrhea in a patient with pallister hall syndrome |
topic | Pallister-Hall syndrome Spontaneous CSF rhinorrhea nasal liquorrhea |
url | https://www.journals.lapub.co.uk/index.php/roneurosurgery/article/view/1184 |
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