Artikel
Vanishing Bone Disease mimiking Neurofibromatosis 2 or an enlarged chronic Osteomyelitis of the skull base
Suche in Medline nach
Autoren
-
Caroline Rattenhuber
- Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
-
Ralf Birkenhäger
- Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
-
C. P. Adler
- Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
-
M. Uhl
- Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
-
Roland Laszig
- Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
-
Gerd Ridder
- Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
-
Antje Aschendorff
- Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
-
Jörg Schipper
- Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Freiburg, Freiburg
| Veröffentlicht: | 22. September 2005 |
|---|
Gliederung
Text
Case: A 44 year old male was admitted in may 2004 in our clinic with enlarged osteolyses of the skull base and the cranial cervical region. The patient became deaf in the last 5 years and suffered multiple paralysis of cranial nerves.
At the beginning of the disease (5 years ago) 2 operations for histological samples were performed (an exploration of the occipital skull left and a transmastoidal labyrinthektomy right) showing signs of chronic inflammation.
Diagnostic findings: The radiological picture gave the impression of a very rare disease: a Vanishing Bone Disease (also known as Gorham-Stout Disease). A reanalysis of the histological samples was performed showing parts of a schwannoma, but not the typical picture of a vanishing bone disease. In the case of bilateral schwannomas of the vestibular nerve the patient would suffer a Neurofibromatosis 2. NF 2 is inherited in an autosomal dominant pattern. The gene is localised on chromosome 22 and consists of 17 exons. In about 30% of the NF2 cases the gene mutation is only detectable in the tumor tissue (mosaik).
The family history of the patient showed no disposition for NF2. We performed a direct sequencing of the encoding exons and the promoter region of the NF2 gene to possibly identify a de novo mutation.
Results: We detected no mutation in the patients‘ NF2 gene.
The clinical, histological and molecularbiological findings lead to the 3 following differential diagnosis: Vanishing Bone Disease, NF2 and enlarged chronic osteomyelitis . This case may represents a combination of these three diseases or a new entity of disease because the findings do not match the typical profile of one of these diseases.
