Partial or complete failure of obliteration of the processus vaginalis in the female results in the formation of a potential space known as the canal of Nuck, into which various organs and/or collections can herniate. A 4-month-old female presented with a left labial mass related to herniation of the uterus, ovaries and fallopian tubes through the canal of Nuck. Early diagnosis is important as there is a high risk of ovarian torsion and incarceration.
The white cerebellum sign is an unusual but striking radiological sign of global hypoxia ischemia of the brain. Recognition helps in diagnosis and prognosis as this sign is usually associated with a uniformly poor outcome.
BackgroundAicardi-Goutières syndrome (AGS) is a genetic inflammatory disorder that presents with early infantile encephalopathy. We report the clinical and molecular details of multiple members of a family with AGS secondary to a novel RNASEH2C mutation, highlighting the evolution of phenotypic abnormalities in AGS.MethodsBetween February 2018 and June 2019, a pedigree tree was constructed for 141 members of a family. The clinical and radiological details of 14 symptomatic children were chronicled and compared with the asymptomatic family members. Genetic analysis was performed on 23 individuals (six symptomatic). This involved whole exome sequencing for one patient and confirmation of the identified indel variant in other family members.ResultsThe symptomatic children were diagnosed as AGS secondary to a novel indel variation in exon 2 of the RNASEH2C gene (chr11:65487843_65487846delinsGCCA). Clinically, between the ages of 2 and 6 months, the symptomatic children developed irritability (14/14), unexplained fever (9/14), chill blains (12/14), sleep irregularities (14/14) and developmental delay (14/14), with deterioration to vegetative state at a median (IQR) age of 10.5 months (9.25–11). In addition, chill blains were observed in 5/17 (29.4%) carrier individuals. Neuroimaging demonstrated a gradual progression of calcification involving basal ganglia, periventricular white matter and dentate nucleus. Three patients also demonstrated presence of subependymal germinolytic cysts.ConclusionThis report highlights a novel founder RNASEH2C mutation and the phenotypic evolution of AGS. In addition, we report chill blains in one-third of RNASEH2C mutation carriers. Neuroradiologically, the report illustrates novel MRI findings and demonstrates a progression pattern of disease. These findings will aid in earlier suspicion and diagnosis of AGS.
Background
Left paraduodenal hernia (PDH) makes for around 40% of all internal hernias. It is due to the prolapse of bowel through fossa of Landzert, an anatomic variant that is found in around 2% of the population. This hernia is presumed to be spontaneously reducible in many patients with recurrent symptoms.
Case presentation
The present report shows the case of this condition in a 65-year-old male presenting with recurrent abdominal pain and subacute intestinal obstruction who was unwilling for surgery and was managed conservatively. A follow-up scan after 11 months revealed complete spontaneous resolution of hernia.
Conclusions
This represents only the second demonstration of the oft-mentioned spontaneous reduction of this condition on computed tomography. The radiologists should be aware of this uncommon entity and in the event of clinical suspicion; the imaging should be performed when the patient is symptomatic.
Background: Colouterine fistula is a very rare entity because of the sturdy and muscular nature of the uterus. Due to the rarity of this condition and nonspecific clinical findings, it poses a diagnostic challenge to treating physicians. Case presentation: Here, we report a case of a 64-year-old female, who presented with lower abdominal pain. Clinically, there was suspicion of a recto-vaginal fistula. However, on imaging, she was found to have a colouterine fistula secondary to sigmoid diverticulitis. Conclusion: It is essential to be aware of this rare complication of sigmoid diverticulitis. The imaging plays a cardinal role in the diagnosis and guiding the management of this disease.
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