Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.

BACKGROUND AND PURPOSE: Although cardinal imaging features for the diagnostic criteria of the Dandy-Walker phenotype have been recently defined, there is a large range of unreported malformations among these patients. The brainstem, in particular, deserves careful attention because malformations in this region have potentially important implications for clinical outcomes. In this article, we offer detailed information on the association of brainstem dysgenesis in a large, multicentric cohort of patients with the Dandy-Walker phenotype, defining different subtypes of involvement and their potential clinical impact. MATERIALS AND METHODS: In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement. RESULTS: There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures "only" (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality. CONCLUSIONS: Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.

BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cerebellar development. MATERIALS AND METHODS: In this multicenter study, retrospective MR imaging examinations from fetuses and children previously diagnosed with Dandy-Walker malformation or vermian hypoplasia were re-evaluated, using the choroid plexus/tela choroidea location and the fastigial recess shape to differentiate Dandy-Walker malformation from vermian hypoplasia. Multiple additional measures of the posterior fossa and cerebellum were also obtained and compared between Dandy-Walker malformation and other diagnoses. RESULTS: Four hundred forty-six examinations were analyzed (174 fetal and 272 postnatal). The most common diagnoses were Dandy-Walker malformation (78%), vermian hypoplasia (14%), vermian hypoplasia with Blake pouch cyst (9%), and Blake pouch cyst (4%). Most measures were significant differentiators of Dandy-Walker malformation from non-Dandy-Walker malformation both pre- and postnatally (P < .01); the tegmentovermian and fastigial recess angles were the most significant quantitative measures. Posterior fossa perimeter and vascular injury evidence were not significant differentiators pre- or postnatally (P > .3). The superior posterior fossa angle, torcular location, and vermian height differentiated groups postnatally (P < .01), but not prenatally (P > .07). CONCLUSIONS: As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plexus, an obtuse fastigial recess, and an unpaired caudal lobule. Posterior fossa size and torcular location should be eliminated from the diagnostic criteria. This refined phenotype may help guide future study of the numerous etiologies and varied clinical outcomes.

Radiomic Phenotypes Distinguish Atypical Teratoid/Rhabdoid Tumors from Medulloblastoma.

BACKGROUND AND PURPOSE: Atypical teratoid/rhabdoid tumors and medulloblastomas have similar imaging and histologic features but distinctly different outcomes. We hypothesized that they could be distinguished by MR imaging-based radiomic phenotypes. MATERIALS AND METHODS: We retrospectively assembled T2-weighted and gadolinium-enhanced T1-weighted images of 48 posterior fossa atypical teratoid/rhabdoid tumors and 96 match-paired medulloblastomas from 7 institutions. Using a holdout test set, we measured the performance of 6 candidate classifier models using 6 imaging features derived by sparse regression of 900 T2WI and 900 T1WI Imaging Biomarker Standardization Initiative-based radiomics features. RESULTS: From the originally extracted 1800 total Imaging Biomarker Standardization Initiative-based features, sparse regression consistently reduced the feature set to 1 from T1WI and 5 from T2WI. Among classifier models, logistic regression performed with the highest AUC of 0.86, with sensitivity, specificity, accuracy, and F1 scores of 0.80, 0.82, 0.81, and 0.85, respectively. The top 3 important Imaging Biomarker Standardization Initiative features, by decreasing order of relative contribution, included voxel intensity at the 90th percentile, inverse difference moment normalized, and kurtosis-all from T2WI. CONCLUSIONS: Six quantitative signatures of image intensity, texture, and morphology distinguish atypical teratoid/rhabdoid tumors from medulloblastomas with high prediction performance across different machine learning strategies. Use of this technique for preoperative diagnosis of atypical teratoid/rhabdoid tumors could significantly inform therapeutic strategies and patient care discussions.

Imaging pitfalls in paediatric posterior fossa neoplastic and non-neoplastic lesions.

Paediatric posterior fossa lesions can have much overlap in their clinical and radiological presentation. There are, however, a number of key imaging features that can help the reading radiologist to distinguish tumours from important tumour mimics which are often inflammatory or metabolic entities. This pictorial review provides a number of important cases that proved challenging on imaging and illustrates some common pitfalls when interpreting lesions in the posterior fossa in children. Not everything that is abnormal will be a tumour, but often other causes are overlooked and misinterpreted as tumours, leading to great morbidity for that child. This article highlights some lesions that were mistaken as tumours and will introduce the reader to less commonly seen pathologies which are important to consider on a differential list for this location.

Pediatric head trauma: an extensive review on imaging requisites and unique imaging findings.

The effects of trauma in children are different due to association with some anatomical and physiological differences compared with adults. The role of neuroimaging gains importance in early detection of traumatic brain injuries and prevention of secondary post-traumatic complications. Many algorithms are described for children with head trauma to decide the necessity of a computed tomography scan. The aims of this article are to describe differences of these algorithms, the mechanism of traumatic brain injury with radiological imaging findings in the pediatric population, and explain complications of undiagnosed traumatic brain lesions.

Leptin, insulin and body composition changes during adjuvant taxane based chemotherapy in patients with breast cancer, preliminary study.

BACKGROUND: The objectives of the present study were to compare the effect of adjuvant chemotherapy for breast cancer on serum insulin levels, serum leptin levels, and body composition in early stage breast cancer patients. MATERIALS AND METHODS: 17 breast cancer patients underwent 6 cycles of docetaxel (75 mg), epirubicine (100 mg) and cyclophosphamide (500 mg) (TEC). Anthropometrical and foot-to-foot body fat analyzer BIA, serum glucose, insulin, lipids, HOMA-IR and leptin were compared pre- and post-treatment. RESULTS: There was no statistically significant weight gain after treatment; however, there was an overall trend toward weight gain (69.7 ± 9.8 kg vs 71.03 ± 9.8; P= 0.05). From baseline to the end of the study, percentage of body fat and body fat mass showed an upward trend at the end of chemotherapy (1%; 2 kg P> 0.05). Pre and post-treatment period, leptin was strongly correlated with insulin and HOMA-IR (Spearman's pre-T; r = 0.74; P <0.001, r = 0.66; P = 0.004 post-T; r = 0.549; P =0.022, r = 0.51; P =0.036, respectively). Insulin levels were significantly increased in the post-treatment period (P < 0.05). On correlation analysis, post-T insulin levels were correlated with leptin, weight, fat-mass and fat percentage (Spearman's r = 0.549; P=.022, r = 0.567; P= 0.018, r = 0.498, P= 0.042, r = 0.502; P= 0.040, respectively). DISCUSSION: High insulin and leptin levels, important factors that were previously shown to be related to breast cancer outcome, and insulin resistance may be increased in taxane based chemotherapy regimen. These data may have broad implications for diet and lifestyle strategies for the prevention and treatment of cancers.

Stage-III and -IV endometrial cancer: A single oncology centre review of 104 cases.

The objective of this study was to evaluate the clinicopathological characteristics, treatment and prognosis of advanced endometrial cancer (EC). Patients who underwent surgery for advanced EC between January 1995 and December 2012 were retrospectively reviewed. Patients with missing data, concurrent cancers or uterine sarcomas and those who did not undergo surgery were excluded. The effects of clinicopathological factors on progression-free survival (PFS) and overall survival (OS) were analyzed. A total of 104 patients were included. Most presented with endometrioid histology (74%) and stage-III disease (87.5%), and 76.9% underwent optimal cytoreduction. A multivariate analysis confirmed that lymphovascular space invasion (LVSI) is an independent poor prognostic factor for PFS [odds ratio (OR): 21.37, p = 0.005] and OS [OR: 8.09, p = 0.044]. Suboptimal cytoreduction is another independent poor prognostic factor for PFS [OR: 5.68, p < 0.001]. Our study demonstrated that LVSI and optimal cytoreduction are the most significant factors affecting the survival of advanced EC patients.

Evalution of Serum Lipid Profiles in Turkish Children Aged Two to Eighteen Years.

OBJECTIVE: The purpose of this study was to evaluate dyslipidaemia in children according to age, gender, percentiles, mother's education level, breastfeeding duration and areas of residence. METHODS: A total of 285 children (137 girls; 148 boys), aged between two and 18 years, were enrolled in this cross-sectional, epidemiologic study. Lipid profiles were assessed and its relation with sociodemographic features was evaluated. RESULTS: Dyslipidaemia prevalence was 37.4% (n = 107). High very low-density lipoprotein cholesterol (VLDL-C) and low high-density lipoprotein cholesterol (HDL-C) levels are related with percentiles of the children (p = 0.006, p = 0.03, respectively). Gender was a significant factor for VLDL-C, which was higher in girls than boys (p = 0.04). Total cholesterol levels were high in 14 children (4.9%); 72 of the study group (25.3%) had high triglyceride levels; HDL-C levels were low in 52 children (18.2%). CONCLUSION: All the parameters of dyslipidaemia are not so high in our region. However, as early detection of dyslipidaemia should begin in childhood, we should perform periodic checks to prevent cardiovascular risks.

Chemotherapy for transient myeloproliferative disorder in a premature infant with Down syndrome.

WHAT IS KNOWN AND OBJECTIVE: Congenital leukaemia is the most common leukaemia in newborns with Down syndrome, but it must be differentiated from transient myeloproliferative disorder. The majority of transient myeloproliferative disorders regresses spontaneously during the first few months of life. Data on the treatment outcomes of transient myeloproliferative disorder in premature infants are very rare. We present a case of a very-low-birthweight (1350 g) premature newborn with Down syndrome, diagnosed as having transient myeloproliferative disorder and treated with chemotherapy due to recurrent hyperleucocytosis (WBC: 148 000/mm³) after repeated exchange transfusions. CASE SUMMARY: The patient's WBC count regressed to 24 000/mm(3) without treatment. During the follow-up period, the WBC increased on consecutive days and reached 95 000/mm(3) on the 16th day of the hospitalization. Therefore, chemotherapy was started. Single-agent cytarabine infusion was administered over five days. After the therapy, the WBC count stayed stable and remained steady in the range 4600-13600/mm(3) in the second month. WHAT IS NEW AND CONCLUSION: A very-low-birthweight infant with Down syndrome and recurrent transient myeloproliferative disorder was successfully treated with cytarabine.

The association of molybdenum cofactor deficiency and pyloric stenosis.

Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures. Co-existence of MoCD and pyloric stenosis is previously reported as a coincidence or common etiology. The etiology of the two conditions is unclear; however, reports demonstrate neuronal deficiency in both. We report a neonate who was diagnosed with MoCD and hypertrophic pyloric stenosis.

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene.

Neonatal/infancy-onset diabetes mellitus is a monogenic form of diabetes with onset within 6 months of age. Two distinct types of neonatal diabetes mellitus have been recognized: permanent and transient. Mutations within the K(+)ATP channel and insulin genes are found in most patients with permanent diabetes mellitus. There have been several reports of the successful transition from insulin to sulfonylurea agents in patients with permanent diabetes mellitus caused by mutations in the KCNJ11 gene. We report on a term female neonate with a novel missense mutation, p.P1199L, in the ABCC8 gene that encodes the sulfonylurea receptor 1 whose treatment was successfully converted from insulin to sulfonylurea.

Fibroadenoma of the breast in a man associated with adenocarcinoma of the rectum and polyposis coli.

Fibroadenoma of the breast is an uncommon cause of breast lumps in men. Only a few cases have been reported in the literature, the majority of which were prescribed estrogen. We present herein the first case of a fibroadenoma of the breast in a 68-year-old man with adenocarcinoma of the rectum and polyposis coli. In this case, there was neither estrogen treatment nor any other medications which have been discussed in the literature as inducing fibroadenomas. Fibroadenomas in men without hormone treatment and with normal hormone levels are extremely rare and the developmental mechanism of the breast fibroadenoma in this man is under question.

Brucellar spondylodiscitis: magnetic resonance imaging features with conventional sequences and diffusion-weighted imaging.

PURPOSE: In this retrospective study, we evaluated the contribution and role of diffusion-weighted imaging (DWI) in differentiating acute and chronic forms of brucellar spondylodiscitis. We also describe the characteristics and some indistinguishable features of brucellar spondylodiscitis on magnetic resonance imaging (MRI) to emphasise the importance and limitations of MRI. MATERIALS AND METHODS: MRI examinations of 25 patients with brucellar spondylodiscitis were retrospectively reviewed and analysed by two experienced radiologists. Signal and morphological changes were assessed. The imaging characteristics of acute and chronic forms of spondylodiscitis were compared. Both discriminative imaging findings of brucellar spondylodiscitis and some uncommon findings were interpreted. RESULTS: Of 25 patients with spinal brucellosis, eight had thoracic, ten had lumbar, five had both thoracic and lumbar and two had both lumbar and sacral vertebral involvement. We detected posterior longitudinal ligament elevation in 11 patients, epidural abscess formation in 11 and paravertebral abscess formation in nine. Ten patients had cord compression and eight had root compression. Three patients had facet-joint involvement, and one had erector spinae muscle involvement. Eight patients (32%) were in the acute stage, six (24%) in the subacute stage and 11 (44%) in the chronic stage. Vertebral bodies, vertebral end plates and intervertebral disc spaces were hypointense and hyperintense in the acute stage, whereas they were hypointense and heterogeneous in the subacute and chronic stages on T1- and T2-weighted images, respectively. In the acute stage on the DWI series, vertebral bodies, end plates and discs were all hyperintense but hypointense in the chronic stage. CONCLUSIONS: Although conventional MRI has several advantages over other imaging modalities and is very useful in the differential diagnosis between brucellar spondylodiscitis and other spinal pathologies, it has some difficulties in discriminating acute and chronic forms of spondylodiscitis. DWI is a sensitive, fast sequence that has the potential for differentiating acute and chronic forms of spondylodiscitis, which makes it crucial in spinal imaging.

Metastatic testicular germ cell tumor presenting with abdominal pain: CT and MRI findings.

Testicular tumors are the most common solid tumors in young adult males. Patients with testicular tumor often present with painless scrotal mass. Rarely, symptoms are related to metastases. We describe the case of a patient presenting with abdominal pain due to retroperitoneal lymphadenopathy. We describe the magnetic resonance imaging findings of lumbar spine osseous metastasis.

Uterine tumor resembling ovarian sex cord tumors in a patient using tamoxifen: report of a case and review of literature.

Increasing number of uterine malignancies have been reported in breast cancer patients using tamoxifen. Most of these are endometrial adenocarcinomas. However, only a few cases of endometrial stromal sarcomas have been reported to be linked with tamoxifen usage. A 58-year-old postmenopausal women who had been using tamoxifen for 4 years after a surgery for breast cancer is presented with chronic pelvic pain. Preoperative investigations were indicative of a uterine myoma so that a standard total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. Postoperative histologic diagnosis was a uterine tumor resembling ovarian sex cord tumors, which is an exceedingly rare entity itself. The present case is the first designated diagnosis of this rare tumor, with a possible association of tamoxifen usage.

Hepatoid carcinoma of the ovary: immunohistochemical finding of one case and literature review.

Hepatoid carcinoma is a rare ovarian tumor and is thought to be a histopathologic subtype different from hepatoid type yolk sac tumor based on its pathologic features. A 63-year-old woman who had postmenopausal bleeding and lower abdominal pain was found to have right ovarian mass on pelvic examination and computed tomography. She had high serum levels of alpha fetoprotein (AFP) and CA125. Histologically, the tumor resembled hepatocellular carcinoma by architectural and cytologic features. Immunohistochemically tumor cells were immunoreactive for AFP, alpha 1 antitrypsin, and carcinoembryonic antigens.

MR imaging of fetal abnormalities.

Our purpose was to evaluate the capability of ultrafast single-shot fast spin-echo MR imaging to assess normal fetal anatomy and abnormalities of different fetal organ systems. Fetal MR imaging was performed prospectively in consecutive 40 pregnant women because of abnormal findings or suspected fetal abnormalities on prenatal US. No statistically significant difference between US and MR imaging was found for the detection of abnormality in any organ system. MR imaging was slightly superior to US with regard to cerebral abnormalities only. In four (10%) of 40 fetuses, additional information provided by MR imaging altered counseling. However, MR imaging of the extremities-face and soft tissues was limited because of the lack of real-time information.