Management of Gorham Stout disease with skull-base defects: Case series of six children and literature review.


Journal

International journal of pediatric otorhinolaryngology
ISSN: 1872-8464
Titre abrégé: Int J Pediatr Otorhinolaryngol
Pays: Ireland
ID NLM: 8003603

Informations de publication

Date de publication:
Sep 2019
Historique:
received: 07 01 2019
revised: 04 05 2019
accepted: 01 06 2019
pubmed: 14 6 2019
medline: 26 11 2019
entrez: 14 6 2019
Statut: ppublish

Résumé

Gorham-Stout disease (GSD) is a rare lymphatic disorder which results in bone destruction. Defects of the skull base are difficult to manage, we describe cases to better understand the disease and discuss treatment. Retrospective study including all patients treated for GSD skull-base defects. Medical records, clinical, imaging and treatment data were studied. A systematic review of the literature included case reports of the diseases for further analysis. 6 patients (5 males, 1 female) were included. Mean age at diagnosis was 3.5 years (range 0-10). Follow-up was of 5.2 years. Patients were divided into Naso-temporal (NT) and Vertebro-temporal (VT) groups following anatomical location. NT patients (4 patients) all had petrous defects extending anteriorly, including sphenoid, ethmoidal and mandibular defects. They all had cerebro-spinal fluid leak (CSF) and recurrent meningitis (range from 3 to 7). Two of those patients had sequelae including deafness, paralysis and epilepsy. VT patients (2 patients) all had temporal, occipital bone and cervical vertebrae defects. None had CSF leaks but both died from medullar compression (preceded by tetraparesis in one case). Overall, five out of six patients had type I Chiari malformation. Interferon seemed to be the most efficient medical treatment. Surgery included petrectomy, endonasal surgery for CSF leak management and neurosurgery for medullar management but could not guarantee long-term effects. Main issues in skull base defects are CSF leaks and medullar compressions. Surgical treatment is necessary in both cases but can only be satisfactory if general medical treatment can stabilise the disease.

Sections du résumé

BACKGROUND BACKGROUND
Gorham-Stout disease (GSD) is a rare lymphatic disorder which results in bone destruction. Defects of the skull base are difficult to manage, we describe cases to better understand the disease and discuss treatment.
METHODS METHODS
Retrospective study including all patients treated for GSD skull-base defects. Medical records, clinical, imaging and treatment data were studied. A systematic review of the literature included case reports of the diseases for further analysis.
RESULTS RESULTS
6 patients (5 males, 1 female) were included. Mean age at diagnosis was 3.5 years (range 0-10). Follow-up was of 5.2 years. Patients were divided into Naso-temporal (NT) and Vertebro-temporal (VT) groups following anatomical location. NT patients (4 patients) all had petrous defects extending anteriorly, including sphenoid, ethmoidal and mandibular defects. They all had cerebro-spinal fluid leak (CSF) and recurrent meningitis (range from 3 to 7). Two of those patients had sequelae including deafness, paralysis and epilepsy. VT patients (2 patients) all had temporal, occipital bone and cervical vertebrae defects. None had CSF leaks but both died from medullar compression (preceded by tetraparesis in one case). Overall, five out of six patients had type I Chiari malformation. Interferon seemed to be the most efficient medical treatment. Surgery included petrectomy, endonasal surgery for CSF leak management and neurosurgery for medullar management but could not guarantee long-term effects.
CONCLUSION CONCLUSIONS
Main issues in skull base defects are CSF leaks and medullar compressions. Surgical treatment is necessary in both cases but can only be satisfactory if general medical treatment can stabilise the disease.

Identifiants

pubmed: 31195309
pii: S0165-5876(19)30269-1
doi: 10.1016/j.ijporl.2019.06.002
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

152-156

Informations de copyright

Copyright © 2019 Elsevier B.V. All rights reserved.

Auteurs

François Simon (F)

AP-HP, Hôpital Necker-Enfants Malades, Department of Paediatric Otolaryngology, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France. Electronic address: f.simon@aphp.fr.

Romain Luscan (R)

AP-HP, Hôpital Necker-Enfants Malades, Department of Paediatric Otolaryngology, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

Roman H Khonsari (RH)

AP-HP, Hôpital Necker-Enfants Malades, Department of Maxillo-facial and Plastic Surgery, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

Julie Toubiana (J)

AP-HP, Hôpital Necker-Enfants Malades, Department of General Paediatrics and Paediatric Infectious Diseases, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

Kahina Belhous (K)

AP-HP, Hôpital Necker-Enfants Malades, Department of Radiology, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

Syril James (S)

AP-HP, Hôpital Necker-Enfants Malades, Department of Neurosurgery, Paris Descartes University, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

Thomas Blauwblomme (T)

AP-HP, Hôpital Necker-Enfants Malades, Department of Neurosurgery, Paris Descartes University, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

Michel Zerah (M)

AP-HP, Hôpital Necker-Enfants Malades, Department of Neurosurgery, Paris Descartes University, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

Françoise Denoyelle (F)

AP-HP, Hôpital Necker-Enfants Malades, Department of Paediatric Otolaryngology, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

Jean Donadieu (J)

AP-HP, Hôpital Armand-Trousseau, Department of Hematology and Paediatric Oncology, Pierre et Marie Curie University, 26 Avenue du Dr Arnold Netter, 75012, Paris, France.

Vincent Couloigner (V)

AP-HP, Hôpital Necker-Enfants Malades, Department of Paediatric Otolaryngology, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France.

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