[Craniofacial morphology and obstructive sleep apnoea-hypopnoea syndrome: a craniometric comparative analysis]. / Morfologia craniofacciale e sindrome delle apnee-ipopnee ostruttive nel sonno: un'analisi craniometrica comparativa.

PURPOSE: The aim of this study was to define the relationship between paediatric obstructive sleep apnoea-hypopnea syndrome (OSAHS) and craniofacial morphovolumetric features through comparative craniometric analyses between affected children and controls based on conventional cephalometry. MATERIALS AND METHODS: Cephalometric examinations of 40 children affected by OSAHS were retrospectively evaluated. Sixteen craniometric landmarks were identified, and 27 linear and angular indices related to craniofacial morphovolumetric features were measured. Subsequently, the same process of identifying landmarks and measuring indices was performed on the cephalometric examinations of 40 controls. For each index, we then calculated in both groups the mean, standard deviation, standard error and p value. By comparing the values obtained in the two series, we calculated the degree of significance of each difference between children with OSAHS and controls using the Student t test. RESULTS: Differences of only 5/27 linear and angular indices considered were not statistically significant between groups, thus confirming susceptibility to the disorder in relation to certain splanchnocranic morphovolumetric features. The most significant differences involved mandibular plane inclination and distance between landmark sella and hyoid bone, a reliable index being the vertical position of the latter. CONCLUSIONS: Despite the limitations associated with the 2D nature of conventional cephalometry, mainly related to projection and identification errors, and despite the upright position during examination, we consider the diagnostic value and information content of this technique high, thus reaffirming its role as a first-line imaging investigation in children with sleep-related breathing disorders.

A computed tomography-based comparative cephalometric analysis of the Italian craniofacial pattern through 2,700 years.

The aim of our study was to define the changes in morphovolumetric features of neurocranium, basicranium and splanchnocranium in the population of Campania, southern Italy, over the last 2,700 years. This was a very intense period for this region from both historical and evolutionary perspectives and was marked by the succession of colonisations, dominations and invasions by several European and non-European peoples, events that profoundly influenced the original genetic heritage, which subsequently became more complex. Unlike most previous authors, we based our craniometric comparative analysis on multidetector computed tomography (MDCT) studies of contemporary and ancient series dating to between the seventh and fifth centuries B.C. of skulls found in the Etruscan necropolis of Pompei and Pontecagnano. MDCT is extremely reliable in identifying landmarks and measuring linear and angular indices through the use of multiplanar and tridimensional reformations. While highlighting a remarkable stability of 22/32 of the indices considered, as an effect of the role of the genetic heritage in preserving morphovolumetric features in a given population, statistical analysis showed some interesting results: the main changes concerned the splanchnocranium and the occlusion, indicating a higher sensitivity of these districts to environmental factors, mainly related to diet. Conversely, neurobasicranial complex morphovolumetric features remained amazingly intact. In particular, the neurocranium increased in overall capacity in response to the growing brain and changed shape with a progressive shift to a dolichocranic, flattened frontal pattern; the basicranium shape was preserved, as indicated by the stability of the cranial base (NSBa) angle over time. The splanchnocranium, on the contrary, has undergone a dramatic involution, even conditioning gnathic structures with changes in palatal shape (more acute) and in the relationship between the jaws on the sagittal plane, resulting in increased prevalence of Angle's class I and III malocclusions.

Differential diagnosis between fibroadenoma, giant fibroadenoma and phyllodes tumour: sonographic features and core needle biopsy.

PURPOSE: The aim of this study was to analyse mammographic and ultrasound (US) features of fibroadenoma and phyllodes tumour and assess the diagnostic accuracy of mammography, US and US-guided core needle biopsy (CNB) in the differential diagnosis of these two lesions. MATERIALS AND METHODS: The results of the pathological analysis of excision biopsy of 83 lesions (67 fibroadenomas and 16 phyllodes tumours) were correlated with the findings of mammography, US and US-guided CNB performed on 83 women with a mean age of 45.4 years (range 18-75 years). RESULTS: Sensitivity, specificity and positive predictive values compared with histology were 45%, 50% and 79% for mammography, 34%, 69% and 82% for US and 81%, 97% and 87% for US-guided CNB (p=0.001). CONCLUSIONS: The almost complete overlap between mammographic and US parameters of fibroadenomas and phyllodes tumours and the absence of pathognomonic features preclude the differential diagnosis between the two histological types. US-guided CNB is a valuable tool in the differential diagnosis between fibroadenoma and phyllodes tumour.

Adult-onset pulmonary involvement in Niemann-Pick disease type B.

Niemann-Pick disease type B is caused by a deficiency in acid sphingomyelinase activity; among the six variants of Niemann-Pick disease known to date, it is the most frequently associated with lung involvement, a major cause of morbidity and mortality in this subtype in patients of all ages. Nevertheless, the vast majority of reports in the literature concern infantile forms, while less reported is, for several reasons, the onset in adults being consequently still poorly understood and characterized its clinical, radiographic and functional manifestations. We report a case of a 37 years-old female patient affected by subtype B since she was an infant, operated for aortic valve replacement two years before and came to our attention for the onset of a worsening exertional dyspnoea which proved, through a series of functional tests and radiological exams, to be a consequence of the diffuse lung involvement by the metabolic disorder; we performed a review on this topic through a Medline search of all the available "adult-onset" case reports published since the first description in 1964, also considering the possible association between NPDB and, more generally lysosomal storage disorders, and the valvular disease, already suggested by several Authors in previous works.

Lipomatous lesions of the head and neck region: imaging findings in comparison with histological type.

PURPOSE: Aim of the study is to demonstrate the main role of magnetic resonance imaging in the identification and characterization of lipomatous lesions of the head and neck. MATERIALS AND METHODS: CT and MRI findings of 78 patients (43 male, 35 female) aged 12-80 (mean 47.5) years surgically treated for lipomatous lesions of the head and neck region between January 1995 and June 2005 were retrospectively analysed and correlated with the histological results. RESULTS: On CT images, lipomas and fibrolipomas appeared as smooth (38/50 cases) or lobulated (12/50 cases) well-defined masses associated with moderate displacement of surrounding tissues; tumours had high signal intensity on MR T1-weighted images, with relative decreasing signal on T2-weighted images. Infiltrating lipomas appeared as expansile ill-defined masses with heterogeneous signal. Angiolipomas showed a characteristic contrast enhancement on both CT and MRI. In one case of sialolipoma, the lesion appeared markedly heterogeneous in signal. MR and CT images of Madelung's disease showed multiple symmetrical lipomatous masses involving the neck region. Intraosseous fatty lesions appeared as well-defined hypodense masses sometimes associated with cortical expansion and disruption. CONCLUSIONS: Both CT and MRI exams are useful for detecting lipomatous lesions. MRI, however, is more accurate in the evaluation of their extent and in the characterisation of uncommon lipomatous lesions of the head and neck, and intravenous administration of gadolinium better depicts the margins of the tumour and its vascularisation.

Maxillofacial fibrous dysplasia: personal experience with gadoliniumenhanced magnetic resonance imaging.

PURPOSE: The authors sought to identify radiological criteria assisting in the diagnosis of craniofacial fibrous dysplasia and differential diagnosis of fibro-osseous lesions by comparing computed tomography (CT) and magnetic resonance imaging (MRI) findings and histological results in 23 patients with presumed fibrous dysplasia. MATERIALS AND METHODS: From February 2000 to March 2005, 23 patients (17 women and six men, aged 9-66 years) with facial bone disease underwent CT and MRI studies. Imaging findings were compared with the results of histological examination performed within 1 month of the radiological diagnosis. RESULTS: The combination of CT and MRI led to a presumptive diagnosis of fibrous dysplasia in all cases, but histology confirmed the diagnosis in 18 cases only. In two cases that had initially been considered cyst-like variants of fibrous dysplasia and were associated with irregular enhancement at MRI, histology characterised the lesions as single locations of multiple myeloma. In one case, targeted biopsy of areas showing intense enhancement led to a diagnosis of low-grade fibrosarcoma; in the remaining two cases, the definitive diagnoses were ossifying fibroma and myeloproliferative disease. CONCLUSIONS: MRI proved useful in differentiating fibrous dysplasia from other bone diseases, defining clinical behaviour, identifying neoplastic foci within dysplastic tissue and distinguishing benign from malignant bone lesions. The authors suggest a broader use of contrast-enhanced MRI for the diagnosis and follow-up of dysplastic lesions of the facial bones and for planning appropriate surgical treatment.