Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.

BACKGROUND: Hereditary head and neck paragangliomas (HNP) are very often associated with pheochromocytoma-paraganglioma syndromes, which are caused by mutations in genes encoding subunits of succinate dehydrogenase (SDHx) complex. The aim of this study was to determine the frequency and location of HNP among SDHx carriers. MATERIAL/METHODS: A total of 72 patients with SDHx mutations underwent computed tomography examinations of the head and neck. HNP were present in 44 (61.1%) out of 72 patients (31 SDHD, 11 SDHB, 2 SDHC); 113 HNP were found; the most common were carotid paragangliomas (59) and vagal paragangliomas (27). RESULTS: The HNP were statistically more frequent in carriers of SDHD mutations compared to carriers of SDHB mutations (72.1% vs. 43.5%, p=0.033). Multiple tumors more often occurred in patients with SDHD mutations 26/31 (83.9%) than in patients with SDHB mutations 6/11 (54.5%) p=0.05. There was a significant difference in the prevalence of carotid paragangliomas between patients with SDHB and SDHD mutations (7/11 [63.6%] vs. 30/31 [96.8%], respectively, p=0.004). Patients with SDHD mutations more often had carotid paragangliomas located on the left side than on the right side, as compared to SDHB mutations 25/31 (80.6%) vs. 4/11 (36.4%), p=0.006. CONCLUSIONS: SDHx mutations predispose to multifocal and bilateral HNP. Carotid and vagal paragangliomas occurred most often. Patients with SDHD mutations are characterized by higher frequency of HNP than patients with SDHB mutations, which is mainly driven by higher frequency of carotid body tumors in patients with SDHD mutations. No difference in the frequency of head and neck paragangliomas in other locations was found.

Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography.

AIMS: The aim of this study was to assess the usefulness of somatostatin receptor scintigraphy (SRS) using (99m)Tc-[HYNIC, Tyr3]-octreotide (TOC) and 123I-metaiodobenzylguanidine (mIBG) in patients with SDHx-related syndromes in which paragangliomas were detected by computed tomography and to establish an optimal imaging diagnostic algorithm in SDHx mutation carriers. METHODS: All carriers with clinical and radiological findings suggesting paragangliomas were screened by SRS and 123I-mIBG. Lesions were classified by body regions, i.e. head and neck, chest, abdomen with pelvis and adrenal gland as well as metastasis. RESULTS: We evaluated 46 SDHx gene mutation carriers (32 index cases and 14 relatives; 28 SDHD, 16 SDHB and 2 SDHC). In this group, 102 benign tumors were found in 39 studied patients, and malignant disease was diagnosed in 7 patients. In benign tumors, the sensitivity of SRS was estimated at 77% and of 123I-mIBG at 22.0%. The SRS and mIBG sensitivity was found to be clearly region dependent (p < 0.001). The highest SRS sensitivity was found in head and neck paragangliomas (HNP; 91.4%) and the lowest was found in abdominal paragangliomas and pheochromocytomas (40 and 42.9%, respectively). The highest 123I-mIBG sensitivity was found in pheochromocytomas (sensitivity of 100%) and the lowest in HNP (sensitivity of 3.7%). In metastatic disease, SRS was superior to mIBG (sensitivity of 95.2 vs. 23.8%, respectively). CONCLUSION: SRS and 123I-mIBG single photon emission computed tomography (SPECT) sensitivity in SDHx patients is highly body region dependent. In malignant tumors, SRS is superior to 123I-mIBG SPECT.

[Value of multidetector computed tomography in detection of congenital inner ear malformations and its usefulness in qualification for cochlear implantation]. / Wartosc wielorzrdowej tomografii komputerowej w wykrywaniu wad wrodzonych ucha wewnetrznego oraz przydatnosc metody w klinicznej kwalifikacji do implantacji.

AIM: The aim of the study was retrospective review of multidetector computed tomography (MDCT) findings in group of patient with suspected congenital inner ear malformation and comparison of CT reports with the data concerning qualification for cochlear implantation, electrode choice and surgical technique modification. MATERIAL AND METHOD: 40 subjects, aged from 18 months to 32 years, with suspected inner ear malformation, underwent MDCT in protocol for temporal bone assessment as a part of preoperative assessment before cochlear implantation. CT results were compared with the data concerning qualification for implantation, electrode choice, ear choice and possible technique modification. RESULTS: Normal CT scan were found in 18 subjects. Bilateral Michel deformity was found in 1 patient, bilateral cochlear aplasia in 1 case, common cavity in 1 case. One side cochlear hypoplasia with the cochlear aplasia was found in 1 case. Bilateral cochlear hypoplasia was found in 2 cases, bilateral incomplete partition type I in 2 cases, bilateral incomplete partition type II in 4 cases, bilateral large vestibular aqueduct without notable malformation of the cochlea in 2 cases. Various malformations of semicircular canals without notable malformations of the cochlea were found in 8 cases. MDCT affected ear choice in 6. In 2 cases decision of implantation was cancelled. In 1 case two stage procedure was conducted. CONCLUSIONS: MDCT is valuable method in diagnosing inner ear malformations. It is an essential part of preoperative assessment as its results affect decision of implantation, ear choice, and possible procedure modification.

Aortic pathology in patients with bicuspid aortic valve assessed with computed tomography angiography.

PURPOSE: The aim of the study was to assess thoracic aorta pathologies coexisting with bicuspid aortic valve (BAV) using dual-source computed tomography. MATERIALS AND METHODS: A total of 102 patients with BAV diagnosed by electrocardiogram-gated computed tomography angiography of the thoracic aorta were analyzed retrospectively. The morphology of BAV was characterized on the basis of the presence and orientation of cusps and raphes as "pure BAV" (i.e., without raphe) or "BAV with raphe." The assessment included aortic diameters and pathologies such as dilatation, aneurysm, dissection, or coarctation (CoA). RESULTS: Of the 102 patients, 75 (73.5%) had BAV with raphe, and 27 patients (26.5%) had pure BAV. The analysis revealed significant differences in the diameter of the annulus, the sinuses of Valsalva, the tubular portion of the ascending aorta, and the part of the aorta proximal to the innominate artery between patients with pure BAV and BAV with raphe (respectively 27.18±4.33 vs. 29.88±4.18 mm, P=0.005; 38.11±7.2 vs. 41.77±6.9 mm, P=0.022; 39.07±8.3 vs. 46.31±7.8 mm, P=0.0001; 30.85±6.7 vs. 34.89±5.08 mm, P=0.02). There was a significant difference in prevalence of dilatation and aneurysm of the thoracic aorta between patients with pure BAV and BAV with raphe [58.06% vs. 84.5% (18/31 vs. 60/71), P=0.004]. The prevalence of aortic CoA was higher in patients with pure BAV than in patients with BAV with raphe [44.4% vs. 13.3% (12/27 vs. 10/75), P=0.001]. CONCLUSIONS: BAV with raphe is more common than pure BAV and is more often associated with dilatation and aneurysm of the ascending aorta. Pure BAV is more commonly associated with CoA.

[Iatrogenic internal carotid artery pseudoaneurysm as a complication of myryngotomy in 6-years-old boy]. / Jatrogenny tetniak rzekomy tetnicy szyjnej wewnetrznej u 6-letniego chlopca, jako powiklanie myryngotomii.

The aberrant internal carotid artery (ICA) is a rare congenital vascular anomaly. Misdiagnosed may result in life threatening complications during middle ear surgery. Authors present a case of a 6-year old boy in whom ventilation tube insertion was complicated by ICA pseudo-aneurysm formation. Symptoms, diagnosis and management of ICA pseudo-aneurysm are discussed.

Degeneration of the symphysis pubis presenting as a submucosal urinary bladder tumour.

Urinary bladder sonography is a sensitive diagnostic technique used for visualizing urinary bladder tumours. The aim of our communication is to present a case of a pseudotumour of the urinary bladder originating from the symphysis pubis syndesmosis. A 58-year-old woman was seen by a urologist with symptoms of lower urinary tract infection. Urinary bladder sonography was performed, followed by magnetic resonance imaging. Sonographic images of the bladder showed an exophytic mass on the urinary bladder's anterior wall. A transurethral resection of the tumour was performed. A histopathological examination revealed a necrotic extramural mass, without traits of malignancy. The mass reappeared in the follow-up vesical sonography. Subsequently, its transurethral resection was repeated with the same histopathological findings. The next urinary bladder sonography revealed the presence of the mass again. Pelvic magnetic resonance imaging was performed, which showed advanced degenerative changes in the pubic symphysis syndesmosis that protruded into the bladder, imitating a urinary bladder tumour. To avoid unnecessary surgery, both radiologists and urologists should be made aware that there is a possibility of similar cases in patients. Magnetic resonance imaging enabled correct determination of the primary site of the growth, which, together with the histopathological examination results, influenced the choice of the implemented therapeutic procedures.