Background
Postmortem magnetic resonance imaging (MRI) in perinatal and childhood deaths is increasingly used as a noninvasive adjunct or alternative to autopsy. Imaging protocols vary between ...centres and consensus guidelines do not exist.
Objective
Our aim was to develop practical, standardised recommendations for perinatal postmortem MRI.
Materials and methods
Recommendations were based on the results of two surveys regarding local postmortem MRI practices sent electronically to all 14 members of the European Society of Paediatric Radiology (ESPR) Postmortem Imaging Task Force and 17 members of the International Society of Forensic Radiology and Imaging Task Force (25 different centres).
Results
Overall, 11/14 (78.6%) respondents from different institutions perform postmortem MRI. All of these centres perform postmortem MRI for perinatal and neonatal deaths, but only 6/11 (54.5%) perform imaging in older children.
Conclusion
We propose a clinical standard for postmortem MRI sequences plus optional sequences for neuroimaging and cardiac anatomy depending on available scanning time and referral indications.
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EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well ...characterised and we present a case that provides insights into the cause of posterior PNH.
We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus.
We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Abstract
Proptosis in the neonatal period is relatively infrequent and has diverse underlying etiologies. One of the more common causes appears to be orbital subperiosteal hematoma. Early detection, ...differentiation from other causes, and regular follow-up are essential as loss of vision can occur. We describe two cases of neonatal proptosis caused by orbital subperiosteal hematoma highlighting different diagnostic and management approaches, and provide a summary of previously reported cases. Spontaneous resolution occurs in most cases; however, emergent surgical evacuation is warranted in cases of optic nerve compression. This is the first report to provide orbital ultrasound images of uncomplicated neonatal orbital subperiosteal hematoma. Orbital ultrasound followed by magnetic resonance imaging (MRI) is a valid nonradiation approach for assessing neonatal proptosis due to subperiosteal orbital hematoma.
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease, diagnosed by genetic testing. This is the first report in English literature wherein an ultrasound ...examination suggested this specific diagnosis. In this case, a two month old girl presented with bi‐parieto‐occipital swellings that were being managed as subgaleal
haematoma. The parents were anxious that there was no resolution of the swellings. The suspicion of FOP was raised during the ultrasound examination where a review of the images prompted a questioning of the parents about other lesions in the body. Ultrasound examination of a lump in the thigh revealed calcifications in the vastus lateralis muscle. The appearances on the ultrasound combined with the presence of hallucis valgi suggested a diagnosis of FOP. The diagnosis was subsequently confirmed by genetic studies. This case highlights the need for good communication between the physician, patient and the imaging department.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Upper gastrointestinal contrast study is considered the gold standard investigation to diagnose intestinal malrotation and midgut volvulus which is potentially devastating condition. Ultrasound ...imaging is an alternative but has been considered unreliable due to significant false negative results. At our institution we have been using ultrasound imaging as the first line investigation to diagnose malrotation since 2008 with a preliminary study of 139 patients published in 2014. This is an ongoing audit of a further much larger cohort of patients to determine the efficacy and safety of ultrasound imaging in the diagnosis of intestinal malrotation.
Following ethics approval, a retrospective analysis of a prospectively collected patient database undergoing ultrasound scans to exclude malrotation at our centre was performed from 2012 to 2019.
539 patients underwent ultrasound to assess for malrotation. The mean age of presentation was 365 days (median 30 days, mode 1 day). Malrotation was diagnosed in 17 with 5 having volvulus, with findings confirmed at surgery. 12 had equivocal findings and subsequent contrast studies ruled out malrotation. The remaining 510 patients with no evidence of malrotation were managed conservatively.
We have shown ultrasound to be a safe and effective tool to assess intestinal malrotation without exposure to ionizing radiation.
Level IV
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
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