Use of pre-operative imaging for symptomatic uterine myomas during pregnancy: a case report and a systematic literature review.

PURPOSE: Uterine fibroids (UFs) occur in 10% of pregnancies and may lead to severe maternal-fetal complications, mainly depending on UFs characteristics and the distance to the uterine cavity (UC). When symptomatic, UFs are managed medically. Nevertheless, in about 2% of cases, surgery becomes necessary. Entry into the UC should be avoided during myomectomy. Consequentially, pre-operative assessment of this risk could be beneficial. Ultrasonography (US) represents the gold standard for UFs assessment; however, scarce evidence has been produced to assess the role of magnetic resonance imaging (MRI). The aim of the present study was to summarize current evidence about the pre-operative use of imaging techniques for UFs during pregnancy. METHODS: A systematic research of the literature was conducted in Scopus, PubMed/MEDLINE, ScienceDirect and the Cochrane Library, including case reports and case series. A case report was also discussed. We collected data regarding patients, imaging assessment, UFs characteristics, surgical information, timing and modality of delivery. RESULTS: According to our search strategy, 66 articles were selected and 210 patients were included. US assessment was reported in 36 (17%) cases. MRI was reported in 10 (4.7%) cases. Only in one case, MRI was used to measure the distance between UFs and UC. CONCLUSION: US allows an adequate pre-operative evaluation of anterior, submucosal or pedunculated symptomatic UFs in pregnancy. However, compared to US, MRI may provide a more accurate evaluation of multiple, large, intramural or posterior UFs and could measure the distance between UFs and UC more accurately.

Single-institution experience of intensity-modulated radiotherapy for malignant pleural mesothelioma at University of Catania.

AIM: The multimodal approach to malignant pleural mesothelioma is gradually becoming the standard of care for this disease in patients with good performance status. Materials & methods: We report our experience concerning eight cases treated with the use of static step-and-shoot intensity-modulated radiotherapy to the whole pleural cavity, in patients already undergoing surgical and/or antiblastic therapy. Results & conclusion: Results at a median follow-up of 16 months showed a median survival from the initial treatment of 29 months, with lung toxicity of grade II reported only in two patients.

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.

BACKGROUND: The INI1/SMARCB1 gene protein product has been implicated in the direct pathogenesis of schwannomas from patients with one form of schwannomatosis [SWNTS1; MIM # 162091] showing a mosaic pattern of loss of protein expression by immunohistochemistry [93% in familial vs. 55% in sporadic cases]. AIM OF STUDY: To verify whether such INI1/SMARCB1 mosaic pattern could be extended to all schwannomas arising in the sporadic and familial schwannomatoses [i.e. to SMARCB1-related (SWNTS1) or LZTR1-related (SWNTS2) schwannomatosis or to SMARCB1/LZTR1-negative schwannomatosis] and whether it could be involved in classical NF2 or solitary peripheral schwannomas METHODS: We blindly analysed schwannoma samples obtained from a total of 22 patients including (a) 2 patients (2 males; aged 38 and 55 years) affected by non-familial SMARCB1-associated schwannomatosis (SWTNS1); (b) 1 patient (1 female; aged 33 years) affected by familial schwannomatosis (SWTNS1/ SMARCB1 germ line mutations); (c) 5 patients (3 males, 2 females; aged 33 to 35 years) affected by non-familial (sporadic) LZTR1-associated schwannomatosis (SWNTS2); (d) 3 patients (3 males; aged 35 to 47 years) affected by familial schwannomatosis (SWTNS2/ LZTR1 germ line mutations); (e) 2 patients (1 male, 1 female; aged 63 and 49 years, respectively) affected by non-familial schwannomatosis (SWTNS, negative for SMARCB1, LZTR1 and NF2 gene mutations); (f) 4 patients (3 males, 1 females; aged 15 to 24 years) affected by classical NF2 (NF2: harbouring NF2 germ line mutations; and (g) 5 patients (3 males, 2 females; aged 33 to 68 years) who had solitary schwannomas. [follow-up = 15-30 years; negative for constitutional/somatic mutation analysis for the SMARCB1, LZTR1 and NF2 genes] were (blindly) analyzed. The INI1/SMARCB1 immunostaining pattern was regarded as (1) diffuse positive nuclear staining [= retained expression] or (2) mosaic pattern [mixed positive/negative nuclei = loss of expression in a subset of tumour cells]. RESULTS: All solitary peripheral schwannomas and NF2-associated vestibular schwannomas showed diffuse nuclear INI1/SMARCB1 staining in 97-100% of neoplastic cells; schwannomas obtained from all cases of non-familial and familial schwannomatosis and NF2-associated non-vestibular schwannomas showed a mosaic pattern ranging from 10 to 70% of INI1/SMARCB1-positive expression. We did not record a complete lack of nuclear staining. CONCLUSIONS: The present data suggests that (a) mosaic loss of immunohistochemical INI1/SMARCB1 expression, despite the interlesional variability, is a reliable marker of schwannomatosis regardless of the involved gene and it might help in the differential diagnosis of schwannomatosis vs. solitary schwannomas and (b) INI1/SMARCB1 expression is not useful in the differential with mosaic NF2, since NF2-associated peripheral schwannomas show the same immunohistochemical pattern.

Uveal melanoma: quantitative evaluation of diffusion-weighted MR imaging in the response assessment after proton-beam therapy, long-term follow-up.

PURPOSE: The purpose of this prospective study was to investigate the proton-beam-induced changes in apparent diffusion coefficient (ADC) values of ocular melanoma treated with proton-beam therapy (PBT) in patients undergoing long-term magnetic resonance imaging (MRI) follow-up and to assess whether variations in ADC constitute a reliable biomarker for predicting and detecting the response of ocular melanoma to PBT. METHODS: Seventeen patients with ocular melanoma treated with PBT were enrolled. All patients underwent conventional MRI and diffusion-weighted imaging (DWI) at baseline and 1, 3, 6, and 18 months after the beginning of therapy. Tumor volumes and ADC values of ocular lesions were measured at each examination. Tumor volumes and mean ADC measurements of the five examination series were compared; correlation of ADC values and tumor regression was estimated. RESULTS: Mean ADC values of ocular melanomas significantly increased already 1 month after therapy whereas tumor volume significantly decreased only 6 months after therapy. Pretreatment ADC value of ocular melanomas and early change in ADC value 1 month after therapy significantly correlated with tumor regression. CONCLUSIONS: In ocular melanoma treated with PBT, ADC variations precede volume changes. Both pretreatment ADC and early change in ADC value may predict treatment response, thus expanding the role of DWI from diagnostic to prognostic.

Crohn's disease of the small bowel: evaluation of ileal inflammation by diffusion-weighted MR imaging and correlation with the Harvey-Bradshaw index.

PURPOSE: This study was undertaken to determine the diagnostic capabilities of diffusion-weighted magnetic resonance imaging (DWI) in detecting ileal inflammation in Crohn's disease (CD), and to verify the correlation between the DWI sequences and the Harvey-Bradshaw index (HBI). MATERIALS AND METHODS: Twenty patients with an endoscopic-histological diagnosis of CD of the terminal ileum and MR enterography with DWI sequences and HBI were retrospectively selected. Disease activity was visually evaluated on the DWI sequences. In quantitative analysis, the apparent diffusion coefficient (ADC) of the terminal ileum was compared with that of normal ileal loops. Pearson's r was used to verify the correlation between the DWI findings and the HBI. RESULTS: On visual assessment, the accuracy, sensitivity and positive predictive value of DWI for the detection of inflammation were 100%. In the quantitative assessment, the ADC value of the disease-active terminal ileum was significantly lower (p < 0.00001) than that of normal ileal loops. A correlation was found between visual assessment of the terminal ileum with the DWI sequences and HBI; no correlation was found between ADC of the terminal ileum and HBI. CONCLUSION: DWI sequences may be useful in differentiating actively inflamed small bowel segments from normal small bowel in CD. Though partial, the correlation between DWI sequences and HBI confirms the utility of this technique in the study of patients with CD.

Diffusion-weighted magnetic resonance imaging and ultrasound evaluation of choroidal melanomas after proton-beam therapy.

PURPOSE: This study was undertaken to compare the ultrasound and magnetic resonance imaging parameters of ocular melanoma and to assess their variation after proton-beam therapy. MATERIALS AND METHODS: Fifteen choroidal melanoma patients treated with proton-beam therapy were enroled in the study. All patients underwent ophthalmologic evaluations, ultrasound, conventional magnetic resonance (MR) imaging and diffusion-weighted MR imaging before the start of therapy and 3 and 6 months after therapy. Basal diameters, thickness, internal reflectivity, tumour volumes and apparent diffusion coefficient (ADC) values of ocular melanomas were measured at each examination. Correlations between internal reflectivity and ADC were investigated. RESULTS: No significant changes were seen in tumour diameters and tumour height as assessed by B-scan and A-scan, respectively. Significant increase in mean tumour internal reflectivity was detected at 6 months (baseline 35 % ± 11; 6 months 48 % ± 8, Tukey-Kramer p = 0.005). On MRI, compared to baseline (mean 547 ± 262 mm(3)), a significant reduction in volume was seen at 6 months (Tukey-Kramer p = 0.045) (mean volume 339 ± 170 mm(3), mean reduction 38 %). A significant increase in ADC (baseline 1,002 ± 109 mm(2)/s) was detected both at 3 and 6 months after proton therapy (respectively, 1,454 ± 90 and 1,833 ± 261 mm(2)/s, both p < 0.001). CONCLUSIONS: By MRI, in particular by ADC assessment, it is possible to detect early variations in melanoma treated by proton-beam therapy. This examination could be used together with ultrasound in the follow-up of this treatment.

Diffusion-weighted magnetic resonance imaging for predicting and detecting the response of ocular melanoma to proton beam therapy: initial results.

PURPOSE: The aim of this study was to investigate the utility of diffusion-weighted magnetic resonance (MR) imaging for prediction and early detection of response to proton beam therapy in ocular melanoma. MATERIALS AND METHODS: Ten ocular melanoma patients treated with proton beam therapy were enrolled in the study. All patients underwent conventional MR imaging and diffusion-weighted imaging (DWI) before the start of therapy, and after 1, 3 and 6 months of therapy. Tumour volumes and apparent diffusion coefficient (ADC) values of ocular lesions were measured at each examination. Tumour volumes and mean ADC measurements of the four examination series were compared; correlation of ADC values and tumour regression was investigated. RESULTS: Mean ADC value of ocular melanomas significantly increased as early as 3 months after therapy; tumour volume significantly decreased as early as 6 months after therapy. The ADC values of ocular melanomas before therapy significantly correlated with tumour regression. CONCLUSIONS: DWI may provide an early surrogate biomarker for prediction and early detection of tumour response to eye-preserving therapies in ocular melanoma.

Natural history of neurofibromatosis type 2 with onset before the age of 1 year.

Neurofibromatosis type 2 (NF2) with onset before the first year of life has been anecdotally reported in the literature. We (a) prospectively (years 1997-2012) followed up three unrelated NF2 children, all harbouring NF2 gene mutations whose onset of disease was before age 1 year, and (b) systematically reviewed published reports on NF2 in the youngest age group (i.e. onset <1 year). The present three children had (1) small (<1 cm), bilateral vestibular schwannomas (VSs) detected (as an incidental finding) at magnetic resonance imaging (MRI) by the age of 4 to 5 months that were asymptomatic for 10 to 14 years, with sudden and rapid (<12 months) progression in two cases at the age of 11 and 15 years, respectively; (2) development of large numbers of skin NF2 plaques mainly in atypical locations (i.e. face, hands, legs and knees), which reverted to normal skin appearance at the time of VSs progression; (3) lens opacities (n = 1) and NF2 retinal changes (n = 2) detected as early as age of 3-4 months; (4) diffuse (asymptomatic) high signal lesions at brain MRI in the periventricular regions (alike cortical dysplasia); and (5) unaffected first-degree relatives who did not harbour NF2 gene abnormalities. This represents the youngest NF2 group with the longest prospective follow-up so far reported. NF2 may present as a congenital form with bilateral VSs presenting as early as the first months of life and with natural history different to that which occurs in classical NF2.

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

BACKGROUND: Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas of the spinal roots at every level and of all major peripheral nerves sometimes associated with typical NF1 stigmata; most cases underlie NF1 gene mutations. OBJECTIVES: The objectives of this study are (1) to report the findings in a set of 16-year-old monozygotic twin girls and a 14-year-old boy and (2) to review the existing literature. METHODS AND RESULTS: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature. CONCLUSIONS: This article presents the first report on (1) spinal neurofibromatosis in a set of affected monozygotic twins; (2) the earliest onset of the disease; and (3) the occurrence of high signal lesions in the brain at MRI.

Cellular stress response, sirtuins and UCP proteins in Alzheimer disease: role of vitagenes.

Alzheimer's Disease (AD) is a neurodegenerative disorder affecting up to one third of individuals reaching the age of 80. Different integrated responses exist in the brain to detect oxidative stress which is controlled by several genes termed Vitagenes. Vitagenes encode for cytoprotective heat shock proteins (Hsp), as well as thioredoxin, sirtuins and uncouple proteins (UCPs). In the present study we evaluate stress response mechanisms in plasma and lymphocytes of AD patients, as compared to controls, in order to provide evidence of an imbalance of oxidant/antioxidant mechanisms and oxidative damage in AD patients and the possible protective role of vitagenes.We found that the levels of Sirt-1 and Sirt-2 in AD lymphocytes were significantly higher than in control subjects. Interestingly, analysis of plasma showed in AD patients increased expression of Trx, a finding associated with reduced expression of UCP1, as compared to control group.This finding can open up new neuroprotective strategies, as molecules inducing this defense mechanisms can represent a therapeutic target to minimize the deleterious consequences associated to oxidative stress, such as in brain aging and neurodegenerative disorders.

Zero-P: a new zero-profile cage-plate device for single and multilevel ACDF. A single institution series with four years maximum follow-up and review of the literature on zero-profile devices.

PURPOSE: To analyze the prospectively collected data in a series of patients treated with single- or multilevel ACDF with a stand-alone, zero-profile device, focusing on clinico-radiological outcome, complications and technical hints, and to review the literature on such new devices. METHODS: Eighty-five patients harboring symptomatic DDD underwent ACDF with the Zero-P cage-plate: 29 at 1-level and 56 at 2-4 levels (total 162 devices). In the multilevel group, 9 patients received a combination of Zero-P and stand-alone cages (hybrid implants). This study focuses on 32 patients with follow-up ranging from 20 to 48 months. NDI, SF-36 and arm pain VAS scores were registered preoperatively and at follow-up visits. Dysphagia was assessed using the Bazaz score. Imaging included X-rays, CT and MRI, also to assess the presence of vertebral body fractures in multilevel cases. Paired Student t test was used for statistical analysis. RESULTS: SF-36 and NDI showed a statistically significant improvement (p < 0.01) and mean arm pain VAS score decreased from 79 to 41. X-rays and CT demonstrated, respectively, a 94.5 % and a 92 % fusion rate. Three patients complained of moderate and two of mild transient dysphagia (15.5 %). No device-related complications occurred and no fractures, secondary to four screws insertion in one vertebral body (i.e., swiss cheese effect), were detected in multilevel cases. In patients with extensive anterior osteophytes only a "focal spondylectomy" was required. CONCLUSION: The Zero-P device is safe and efficient, even in multilevel cases. Dysphagia is minimal, extensive anterior osteophytectomy is unnecessary and technical hints may ease the surgical workflow. This is the largest series, with the longest follow-up, reported.

Surgical treatment of congenital rhabdoid tumor in a 10-day-old newborn.

BACKGROUND: Malignant rhabdoid tumors are rare and aggressive tumors of pediatric age. The primary tumor can occur in different localizations, but it mainly involves kidney, soft tissue, or central nervous system. It has been associated to a poor diagnosis. METHODS: The authors present the case of a 10-day-old newborn affected by a bulky nasofronto-orbitary neoplasm. The patient underwent radical surgical treatment and further excision of a preauricular metastasis combined with postoperative chemotherapy treatment. RESULTS: The authors adopted a diagnostic and therapeutic protocol according to international guidelines, not without difficulty because the first histological report showed esthesioneuroblastoma. The rarity and aggresivity of rhabdoid tumor and the precocity of onset in our patient presented a difficulty to define prognostic factors and survival rates, as well as therapeutic plan of treatment. CONCLUSIONS: The authors underline the importance of a correct prenatal diagnosis and an early surgical treatment to reach the complete healing of the patient.

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.

The term twin spotting refers to phenotypes characterized by the spatial and temporal co-occurrence of two (or more) different nevi arranged in variable cutaneous patterns, and can be associated with extra-cutaneous anomalies. Several examples of twin spotting have been described in humans including nevus vascularis mixtus, cutis tricolor, lesions of overgrowth, and deficient growth in Proteus and Elattoproteus syndromes, epidermolytic hyperkeratosis of Brocq, and the so-called phacomatoses pigmentovascularis and pigmentokeratotica. We report on a 28-year-old man and a 15-year-old girl, who presented with a previously unrecognized association of paired cutaneous vascular nevi of the telangiectaticus and anemicus types (naevus vascularis mixtus) distributed in a mosaic pattern on the face (in both patients) and over the entire body (in the man) and a complex brain malformation (in both patients) consisting of cerebral hemiatrophy, hypoplasia of the cerebral vessels and homolateral hypertrophy of the skull and sinuses (known as Dyke-Davidoff-Masson malformation). Both patients had facial asymmetry and the young man had facial dysmorphism, seizures with EEG anomalies, hemiplegia, insulin-dependent diabetes mellitus (IDDM), autoimmune thyroiditis, a large hepatic cavernous vascular malformation, and left Legg-Calvé-Perthes disease (LCPD) [LCPD-like presentation]. Array-CGH analysis and mutation analysis of the RASA1 gene were normal in both patients.

Giant hepatic hemangioma case report: When is it time for surgery?

We describe a case of a 30-year-old man who complained intermitted pain in right abdominal flank; a large cavernoumatos hemangioma - up to 6 cm in size - was revealed in the fifth hepatic segment using Ultrasonography and MRI (Magnetic Resonance Imaging). Indications for treatment - based on imaging features and clinical data - are briefly discussed in our report, providing also a review of existing literature.

Dosimetric changes with computed tomography automatic tube-current modulation techniques.

The study is aimed at a verification of dose changes for a computed tomography automatic tube-current modulation (ATCM) technique. For this purpose, anthropomorphic phantom and Gafchromic® XR-QA2 films were used. Radiochromic films were cut according to the shape of two thorax regions. The ATCM algorithm is based on noise index (NI) and three exam protocols with different NI were chosen, of which one was a reference. Results were compared with dose values displayed by the console and with Poisson statistics. The information obtained with radiochromic films has been normalized with respect to the NI reference value to compare dose percentage variations. Results showed that, on average, the information reported by the CT console and calculated values coincide with measurements. The study allowed verification of the dose information reported by the CT console for an ATCM technique. Although this evaluation represents an estimate, the method can be a starting point for further studies.

Endometriosis: clinical features, MR imaging findings and pathologic correlation.

OBJECTIVE: We illustrate the magnetic resonance imaging (MRI) features of endometriosis. BACKGROUND: Endometriosis is a chronic gynaecological condition affecting women of reproductive age and may cause pelvic pain and infertility. It is characterized by the growth of functional ectopic endometrial glands and stroma outside the uterus and includes three different manifestations: ovarian endometriomas, peritoneal implants, deep pelvic endometriosis. The primary locations are in the pelvis; extrapelvic endometriosis may rarely occur. Diagnosis requires a combination of clinical history, invasive and non-invasive techniques. The definitive diagnosis is based on laparoscopy with histological confirmation. Diagnostic imaging is necessary for treatment planning. MRI is as a second-line technique after ultrasound. The MRI appearance of endometriotic lesions is variable and depends on the quantity and age of haemorrhage, the amount of endometrial cells, stroma, smooth muscle proliferation and fibrosis. The purpose of surgery is to achieve complete resection of all endometriotic lesions in the same operation. CONCLUSION: Owing to the possibility to perform a complete assessment of all pelvic compartments at one time, MRI represents the best imaging technique for preoperative staging of endometriosis, in order to choose the more appropriate surgical approach and to plan a multidisciplinary team work. TEACHING POINTS: • Endometriosis includes ovarian endometriomas, peritoneal implants and deep pelvic endometriosis. • MRI is a second-line imaging technique after US. • Deep pelvic endometriosis is associated with chronic pelvic pain and infertility. • Endometriosis is characterized by considerable diagnostic delay. • MRI is the best imaging technique for preoperative staging of endometriosis.

Contrast-Enhanced Magnetic Resonance Cholangiography: Practical Tips and Clinical Indications for Biliary Disease Management.

Since its introduction, MRCP has been improved over the years due to the introduction of several technical advances and innovations. It consists of a noninvasive method for biliary tree representation, based on heavily T2-weighted images. Conventionally, its protocol includes two-dimensional single-shot fast spin-echo images, acquired with thin sections or with multiple thick slabs. In recent years, three-dimensional T2-weighted fast-recovery fast spin-echo images have been added to the conventional protocol, increasing the possibility of biliary anatomy demonstration and leading to a significant benefit over conventional 2D imaging. A significant innovation has been reached with the introduction of hepatobiliary contrasts, represented by gadoxetic acid and gadobenate dimeglumine: they are excreted into the bile canaliculi, allowing the opacification of the biliary tree. Recently, 3D interpolated T1-weighted spoiled gradient echo images have been proposed for the evaluation of the biliary tree, obtaining images after hepatobiliary contrast agent administration. Thus, the acquisition of these excretory phases improves the diagnostic capability of conventional MRCP-based on T2 acquisitions. In this paper, technical features of contrast-enhanced magnetic resonance cholangiography are briefly discussed; main diagnostic tips of hepatobiliary phase are showed, emphasizing the benefit of enhanced cholangiography in comparison with conventional MRCP.

Cutis tricolor: a literature review and report of five new cases.

BACKGROUND: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e.g., cutis marmorata telangectasica congenita (phacomatosis achromico-melano-marmorata)] or in the context of other skin (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis, PPV) or complex malformation phenotypes (e.g., microcephaly and dwarfism). METHODS: (I) Review of the existing literature; and (II) information on our personal experience (clinical, laboratory and imaging data) on new cases with cutis tricolor seen and followed-up at our institutions during years 2010-2016. RESULTS: The existing literature revealed 19 previous studies (35 cases) with pure cutaneous or syndromic cutis tricolor phenomena. Our personal experience included 5 unpublished patients (3 boys; 2 girls; currently aged 2 to 14 years) seen and followed-up at our Institutions in Italy who had: (I) skin manifestations of the cutis tricolor type (N=5); (II) skeletal abnormalities including small skull (n=2), obtuse angle of mandible (n=3), mild to moderate scoliosis (n=3), vertebral defects (n=3), and long bones bowing (n=3); mild psychomotor delay (n=3); epilepsy (n=2); anomalies of the corpus callosum (n=3); and cavum vergae (n =2). CONCLUSIONS: This study further confirms and expands the overall phenotype of cutis tricolor. By literature review and personal experience we conclude that the skin abnormalities of the cutis tricolor type are stable over time; the skeletal defects are mild to moderate and do not progress or cause relevant orthopaedic complications; the neurological/behavioural phenotype does not progress and the paroxysmal events (when present) tend to decrease over time; there is a typical facial phenotype in some patients (long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose and anteverted nostrils), which characterizes a somewhat distinct syndromic phenotype; some patients may develop early onset cataracts. The allelic dydymotic hypothesis of post-zygotic mutations likely involving the same gene loci could well explain the overall skin, bone, lens and nervous system phenomena of migration of different streaks of clones in the different tissues.

MR imaging of ovarian masses: classification and differential diagnosis.

OBJECTIVE: We propose a Magnetic Resonance Imaging (MRI) guided approach to differential diagnosis of ovarian tumours based on morphological appearance. BACKGROUND: Characterization of ovarian lesions is of great importance in order to plan adequate therapeutic procedures, and may influence patient's management. Optimal assessment of adnexal masses requires a multidisciplinary approach, based on physical examination, laboratory tests and imaging techniques. Primary ovarian tumours can be classified into three main categories according to tumour origin: epithelial, germ cell and sex cord-stromal tumours. Ovarian neoplasms may be benign, borderline or malignant. Using an imaging-guided approach based on morphological appearance, we classified adnexal masses into four main groups: unilocular cyst, multilocular cyst, cystic and solid, predominantly solid. We describe MR signal intensity features and enhancement behaviour of ovarian lesions using pathologically proven examples from our institution. CONCLUSION: MRI is an essential problem-solving tool to determine the site of origin of a pelvic mass, to characterize an adnexal mass, and to detect local invasion. The main advantages of MRI are the high contrast resolution and lack of ionizing radiation exposure. Although different pathological conditions may show similar radiologic manifestations, radiologists should be aware of MRI features of ovarian lesions that may orientate differential diagnosis. TEACHING POINTS: • Diagnostic imaging plays a crucial role in detection, characterization and staging of adnexal masses. • Characterization of an ovarian lesion may influence patient's management. • Different pathological conditions may have similar radiologic manifestations. • Non-neoplastic lesions should always be taken into consideration.

Non-neoplastic diseases of the fallopian tube: MR imaging with emphasis on diffusion-weighted imaging.

OBJECTIVE: We illustrate the magnetic resonance imaging (MRI) features of non-neoplastic tubaric conditions. BACKGROUND: A variety of pathologic non-neoplastic conditions may affect the fallopian tubes. Knowledge of their imaging appearance is important for correct diagnosis. With recent advances in MRI, along with conventional MR sequences, diffusion-weighted imaging (DWI) sequences are available and may improve lesion characterization by discriminating the nature of the content of the dilated tube. Tubal fluid with low signal intensity on T1-weighted images, high signal intensity on T2-weighted images and no restricted diffusion on DWI is indicative of hydrosalpinx. Content with high signal intensity on T1-weighted images and restricted diffusion on DWI is suggestive of hematosalpinx associated with endometriosis or tubal pregnancy. A dilated tube with variable or heterogeneous signal intensity content on conventional MR sequences and restricted diffusion on DWI may suggest a pyosalpinx or tubo-ovarian abscess. We describe morphological characteristics, MR signal intensity features, enhancement behaviour and possible differential diagnosis of each lesion. CONCLUSION: MRI is the method of choice to study adnexal pelvic masses. Qualitative and quantitative functional imaging with DWI can be of help in characterization of tubaric diseases, provided that findings are interpreted in conjunction with those obtained with conventional MRI sequences. TEACHING POINTS: • Nondilated fallopian tubes are not usually seen on MR images. • MRI is the method of choice to characterize and localize utero-adnexal masses. • MRI allows characterization of lesions through evaluation of the fluid content's signal intensity. • DWI in conjunction with conventional MRI sequences may improve tissue characterization. • Pelvic inflammatory disease is the most common tubal pathology.