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...

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Main Authors: Milicevic Mihajlo, Aleksic Vuk, Ilic Rosanda, Scepanovic Vuk, Stanimirovic Aleksandar, Paunovic Aleksandra, Milic Marina, Nedeljkovic Zarko, Matteo Sacco, Grujicic Danica
Format: Article
Language:English
Published: London Academic Publishing 2019-09-01
Series:Romanian Neurosurgery
Subjects:
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.
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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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