[A young patient with paraganglioma syndrome type I. An interdisciplinary challenge]. / Junger Patient mit Paragangliomsyndrom Typ 1. Eine interdisziplinäre Herausforderung.

A 33-year old patient presented at our outpatient department with pulse-synchronous tinnitus in the left ear of several years' standing. Examination of the left ear showed a neoplasm at the base of the meatus in front of the ear drum. In addition, there was paresis of the right hypoglossal nerve and right vocal cord. CT scan showed multiple paraganglioma in the head and neck region. Molecular genetic screening analysis showed a mutation of the SDHD gene and thus the diagnosis of paraganglioma syndrome type 1 was made. In the treatment concept presented here the main goal was preservation of function of the left cranial nerves due to the functional loss of the right cranial nerves X and XII. This goal could be achieved by means of a staged procedure in collaboration with radiotherapists.

[Hereditary head and neck tumors]. / Hereditäre Tumoren des Kopf-Hals-Bereichs.

Hereditary paraganglioma, Gorlin-Goltz syndrome and Fanconi anemia are among the rare hereditary tumor syndromes of the head and neck. Patients with hereditary paraganglioma often develop multiple tumors of the glomus caroticum and glomus jugulotympanicum. The corresponding genetic defects of the mitochondrial succinate dehydrogenase complex induce autonomous tumor cell growth. In patients with Gorlin-Goltz syndrome basal cell carcinomas and keratocystic odontogenic tumors usually occur much earlier than in patients with sporadic tumors. The associated germline mutations are located in the patched gene which is a modulator of the cell cycle. Fanconi anemia represents a chromosomal instability syndrome which is characterized by early onset of pancytopenia, i.e. bone marrow failure and subsequent development of acute myeloid leukemia and/or squamous cell carcinomas, especially of the head and neck. A total of 13 different gene clusters have been identified in 2 DNA associated complexes which play an important role in DNA repair mechanisms.

[Stapes surgery : first experiences with the new Soft-CliP piston]. / Steigbügelchirurgie : Erste Erfahrungen mit dem Einsatz des neuen Soft-CliP(R)-Pistons.

BACKGROUND: The first hearing results with a new stapes prosthesis with clip function (Soft-CliP(R) piston) are presented. PATIENTS AND METHODS: This new prosthesis was used in 15 patients (mean age 45.2 years; range 21-63 years) undergoing routine stapes surgery. Soft-CliP(R) piston prostheses with a shaft diameter of 0.4 mm and a length ranging from 4.25 mm to 5.5 mm were used. Postoperative audiological testing and measurement of the air-bone gap were performed after an average of 47.3 days and compared with the preoperative values. RESULTS: The median observed postoperative air-bone gap (ABG) was 8.33 dB +/-4.16 dB. All patients had less than 20 dB ABG and in 53.3% of cases was less than 10 dB. The operating time showed a clear difference between the left (66.5 min +/-37.79 min) and right ears (47.2 min +/-11.08 min). DISCUSSION: This new prosthesis design greatly facilitates a very difficult step in stapes surgery, the prosthesis fixation to the incus. The first postoperative hearing results are very promising but long-term results in a larger group of patients are still pending.