Is advanced neuroimaging for neuroradiologists? A systematic review of the scientific literature of the last decade.

INTRODUCTION: To evaluate if advanced neuroimaging research is mainly conducted by imaging specialists, we investigated the number of first authorships by radiologists and non-radiologist scientists in articles published in the field of advanced neuroimaging in the past 10 years. METHODS: Articles in the field of advanced neuroimaging identified in this retrospective bibliometric analysis were divided in four groups, depending on the imaging technique used. For all included studies, educational background of the first authors was recorded (based on available online curriculum vitae) and classified in subgroups, depending on their specialty. Finally, journal impact factors were recorded and comparatively assessed among subgroups as a metric of research quality. RESULTS: A total number of 3831 articles were included in the study. Radiologists accounted as first authors for only 12.8 % of these publications, while 56.9 % of first authors were researchers without a medical degree. Mean impact factor (IF) of journals with non-MD researchers as first authors was significantly higher than the MD subgroup (p < 10-20), while mean IF of journals with radiologists as first authors was significantly lower than articles authored by other MD specialists (p < 10-11). CONCLUSIONS: The majority of the studies in the field of advanced neuroimaging in the last decade is conducted by professional figures other than radiologists, who account for less than the 13 % of the publications. Furthermore, the mean IF value of radiologists-authored articles was the lowest among all subgroups. These results, taken together, should question the radiology community about its future role in the development of advanced neuroimaging.

Atypical Presentation of Ewing's Sarcoma with a Single Left Orbital Metastasis.

BACKGROUND: We present an uncommon case of Ewing's sarcoma in a 16-year-old boy. CASE REPORT: This case can be considered unique because of the atypical presentation, normal laboratory tests and absence of the typical symptoms such as pain, masses or swelling, fatigue or weight loss, breathing problems linked to lung metastases or pathologic fractures. The only event that brought the patient to our attention was the sudden onset of left proptosis. CONCLUSIONS: The final histopathology together with CT and PET-CT findings led to the diagnosis of a multi-metastatic Ewing's sarcoma involving the orbit, skeleton, bone marrow and lymph nodes.

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.

BACKGROUND: Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still missing. Thus, the aim of this study is to realize a detailed clinical and molecular analysis of a family affected by syndromic X-linked hearing loss with intellectual disability. RESULTS: Clinical analyses revealed a very complex phenotype that included inner ear malformations, vestibular problems, choroideremia and hypotonia with a peculiar pattern of phenotypic variability. Genomic analysis revealed, for the first time, the presence of two close interstitial deletions in the Xq21.1-21.3, harboring 11 protein coding, 9 non-coding genes and 19 pseudogenes. Among these, 3 protein coding genes have already been associated with X-linked hearing loss, intellectual disability and choroideremia. CONCLUSIONS: In this study we highlighted the presence of peculiar genotypic and phenotypic details in a family affected by syndromic X-linked hearing loss with intellectual disability. We identified two, previously unreported, Xq21.1-21.3 interstitial deletions. The two rearrangements, containing several genes, segregate with the clinical features, suggesting their role in the pathogenicity. However, not all the observed phenotypic features can be clearly associated with the known genes thus, further study is necessary to determine regions involved.

Brainstem arteriovenous malformation presenting with dyspraxic handwriting in a young girl.

We report the case of a 11-year-old girl who developed an isolated hand-writing disorder with dysgraphia at the beginning of the school year in the sixth grade. A brain magnetic resonance angiography showed a round arteriovenous malformation sited in the left side of the midbrain extending to the ipsilateral medio-basal thalamus. Child neurologists should never neglect a thorough neurological evaluation in case of isolated worsening of handwriting, to rule out possible underlying organic causes.

Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review.

PURPOSE: Neurofibromatosis type 1 (NF1) is a multisystem autosomal dominant disorder that primarily involves the skin and the nervous system. Development of cerebral arterial stenosis is a potentially deadly complication of NF1, which is frequently underestimated. The aim of our paper is to report the frequency of this cerebrovascular disease in a series of patients affected by NF1, using magnetic resonance angiography (MRA). A review of the literature was also performed, focused on the usefulness of MRA in NF1 patients. MATERIALS AND METHODS: Among 125 patients with NF1 (clinical diagnosis according to the standard National Institutes of Health criteria), 81 (65%) were studied with brain MRI (magnetic resonance imaging) and MRA using a 1.5 T magnet. RESULTS: Multiple intracranial arterial stenoses were found in six patients (7.4%). In our study, MRA proved to be critical, especially for the detection of stenoses in the branches of the Circle of Willis. CONCLUSION: Few case series have investigated the incidence of vascular complications of NF1, and most of them have used MRI. We suggest adding MRA to the brain imaging of all these patients, as stenoses of the branches of the Circle of Willis are often undetectable by MRI only.

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.

BACKGROUND: To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). MATERIAL/METHODS: Brain MRI and MR angiography were performed at 1.5T. RESULTS: The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. CONCLUSIONS: Abnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a family with AOS.