We present the appearances on CT and MRI of a case of non-Hodgkin's lymphoma (NHL) of uterine cervix. A 41-year-old woman presented with a short history of urinary symptoms and menorrhagia. Previous cervical smears were normal. Clinically, the cervix was replaced by a huge ulcerating mass. Biopsy showed malignant high grade B-cell NHL. T(2) weighted MRI of the pelvis showed a 12 cm intermediate signal mass replacing the cervix, with infiltration of the vagina and left parametrium, and bilateral internal iliac lymphadenopathy. Whole body CT imaging showed lymphoma in the kidneys and pancreas, the latter associated with biliary obstruction. The patient is in complete remission 7 months post chemotherapy, radiotherapy and stenting of biliary stricture. The success of the cervical cancer screening programme has lead to a reduction in the number of cases of advanced cervical carcinoma and the presence of an unusually large homogeneous cervical tumour, with relatively scant necrosis should prompt suspicion of a less common histology such as NHL.
We present two half siblings with significant short stature who proved a diagnostic challenge for several years. Radiological findings included subtle epiphyseal changes. The diagnosis was made through whole genome sequencing via the 100,000 genome project. A maternally inherited pathogenic heterozygous CDKN1C variant was found in the PCNA (proliferating cell nuclear antigen) domain. Mutations of the PCNA domain of the CDKN1C gene are known to be associated with IMAGe syndrome thus with adrenal disease, although neither affected patient in our case had evidence of adrenal dysfunction. This report supports the previously reported findings of Russell–Silver syndrome (RSS) like phenotype caused by this unusual mechanism (CDKN1C mutations in the PCNA domain), highlights subtle radiological features not described previously and the phenotypic variability between two affected siblings. Additionally it reminds clinicians of the importance of considering associated adrenal disease/diabetes mellitus for variants within the PCNA domain. Finally it confirms RSS-like disorders should be considered in patients who have epiphyseal or metaphyseal changes and short stature, since CDKN1C PCNA domain mutations can result in this phenotype.
The volume and localisation of fluid in the paediatric gastro-intestinal tract is crucial to inform the design of in vitro and in silico models that predict the absorption of oral drugs administered to children. Previous studies have used magnetic resonance imaging (MRI) to quantify fluid volumes and localisation in the intestines of adults; this study is the first to undertake similar analysis of paediatric participants. This study quantified the amount and distribution of fluid in fasted and fluid-fed children using MRI data captured during routine clinical assessment. Data from 32 fasted children (aged 0-16 years) and 23 fluid-fed (aged 8-16 years) was evaluated. The gastric volume ranged from 0-9mL in the fasted and 19-423mL in the fluid-fed state. The small intestinal volume was recorded to be 0-51mL in the fasted and 6-91mL in the fluid-fed state with an average number of 7.7 and 22.4 fluid pockets respectively. The data showed significant differences in gastric volumes and the number of fluid pockets in the small intestine for age-matched fasted and fluid-fed children (p<0.05). Both the number and the volume of pockets reported in children are much lower than those previously reported in adults. This study is the first to report intestinal volumes and localisation in children and provides new information to inform the design of biorelevant in vitro models and real values to update in silico models. The availability of data from both fluid-fed and fasted children show the extremes of fluid volumes that are present in the gastro-intestinal tract which is useful to understand the variability associated with drug absorption in children.
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