François Simon1, Romain Luscan2, Roman H Khonsari3, Julie Toubiana4, Kahina Belhous5, Syril James6, Thomas Blauwblomme6, Michel Zerah6, Françoise Denoyelle2, Jean Donadieu7, Vincent Couloigner2. 1. 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. 2. AP-HP, Hôpital Necker-Enfants Malades, Department of Paediatric Otolaryngology, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France. 3. AP-HP, Hôpital Necker-Enfants Malades, Department of Maxillo-facial and Plastic Surgery, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France. 4. AP-HP, Hôpital Necker-Enfants Malades, Department of General Paediatrics and Paediatric Infectious Diseases, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France. 5. AP-HP, Hôpital Necker-Enfants Malades, Department of Radiology, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France. 6. AP-HP, Hôpital Necker-Enfants Malades, Department of Neurosurgery, Paris Descartes University, Paris Descartes University, 149 Rue de Sèvres, 75015, Paris, France. 7. 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.
Abstract
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: 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: 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: 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.
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: 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: 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. VTpatients (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: 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.
Authors: Pascale Aouad; Nancy M Young; Amanda M Saratsis; Meredith A Reynolds; Maura E Ryan Journal: Childs Nerv Syst Date: 2021-06-11 Impact factor: 1.475
Authors: Catherine E de Keyser; Michael S Saltzherr; Eelke M Bos; M Carola Zillikens Journal: Front Endocrinol (Lausanne) Date: 2020-02-05 Impact factor: 5.555