Computed tomography use in a large Italian region: trend analysis 2004-2014 of emergency and outpatient CT examinations in children and adults.

OBJECTIVES: To analyse CT use in recent years in a high-density Italian area (±10 million inhabitants, including 1 million children), focusing on developing age. METHODS: Retrospective analysis of records from HealthCare IT System, covering >400 hospitals and clinics. Description of CT use between 2004-2014 in emergency and outpatient care and assessment of radiation exposure trend. RESULTS: Over 9 million scans were performed. Emergency procedures showed a global increase of 230 %, mainly head examinations. In the global outpatient setting, the annual number of CT scans/person increased ±19 %. A moderate increase in CT examinations was observed in the developing age population, while a remarkable increase in dental, chest and abdominal procedures occurred for the 10- to 30-year age range. The increase in mean annual dose/capita in the global patient pool was approximately 42 %, increasing from 0.72-1.03 mSv. The population rate receiving an annual CT radiation dose/capita higher than 1 mSv tripled in the 11-year interval, increasing from 16-48 %. CONCLUSIONS: The remarkable increase in radiation exposure raises a special concern for teenagers and young adults, whose risk tends to be underestimated. The fivefold increase in dental CTs in the younger age groups requires further investigations. KEY POINTS: • Literature highlights a remarkable increase in CT use over the last decades. • The paediatric age had higher exposure to X-ray risk. • A detailed retrospective analysis of more than 9 million scans was performed. • Dental, chest, abdominal procedures increased remarkably in 10- to 30-year age range. • This study raises concern about exposure for teenagers and young adults.

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.

2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations. Based on the present and published patients with 2q33 deletions, we suggest that the critical region for the Glass syndrome may be larger than initially proposed. Moreover, we suggest that brain abnormalities might be an additional feature of the 2q33 microdeletion syndrome, but that anorectal malformation is likely not a key marker.

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome.

BACKGROUND: Sex chromosomal aneuploidies in males are rare diseases with an overwhelming involvement of endocrinological and auxological issues; less frequently, other anomalies are observed. Neuroradiological issues are often not taken into account in single patients, and neuroradiological examinations are rarely performed. CASE PRESENTATION: Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia, and some neuroradiological features so far not described. The Magnetic Resonance Imaging showed white matter abnormalities and enlargement of lateral ventricles with never described dysmorphisms of cranio-cervical junction and posterior fossa. A cranio-cervical Computerized Tomography confirmed a dysmorphic aspect of the posterior fossa and occipital condyles, slight morphological asymmetry of C1 and slight lateralization to the right of the odontoid's apex. CONCLUSIONS: Considering the possible relevant clinical impact of these findings, the neuroradiological assessment seems potentially useful to the diagnostic approach of these patients.