2021 NATIONAL DIAGNOSTIC REFERENCE LEVELS FOR PAEDIATRIC COMPUTED TOMOGRAPHY IN EGYPT.

OBJECTIVE: To establish national diagnostic reference levels (NDRLs) for most common paediatric computed tomography (CT) examinations in Egypt. METHODS: This was a prospective study that included all dedicated paediatric imaging centers in Egypt. Data from 1680 individual paediatric patients undergoing CT scanning of the head, chest and abdomen-pelvis were collected. Computed tomography dose indices were recorded, data were analysed and compared with the internationally published paediatric DRLs in14 countries. RESULTS: The Egyptian NDRLs of the CTDIvol (mGy) for head, chest and abdomen-pelvis scans among four paediatric age groups were found to be (23, 27, 28, 32, 4, 5, 6, 8, 5, 6, 7, 9) mGy, respectively; and the corresponding NDRLs of the DLP (mGycm) for head, chest and abdomen-pelvis scans were found to be (345, 428, 499, 637, 67, 85, 145, 215, 97, 135, 240, 320) mGycm, respectively. There were variations in the radiation doses between CT centers and identical scanners indicating the need for dose optimization. The NDRLs of the CTDIvol (mGy) and the DLP (mGycm) values were similar to or lower than international DRLs. CONCLUSION: This study summarizes the results of the first Egyptian Computed Tomography survey that provides national diagnostic reference levels for paediatric patients in Egypt. Despite the reasonable NDRLs values, the study depicted certain pros and cons concerning CT practice, and identified some problems that hinder the process of optimization as well as justification in children.

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.

Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in DYM are the most frequent cause of DMC. Smith-McCort (SMC), another skeletal dysplasia, is also caused by non-synonymous DYM variants. Methods and Results: In the current study, we examined a Pakistani consanguineous family with three affected members. Clinical features like spondyloepimetaphyseal dysplasia, indicative of characteristic skeletal abnormalities, and intellectual disability were observed. Our male patients had microcephaly and coarse facial features while the female patient did not represent microcephaly or abnormal facies, which are significant features of DMC patients. Sanger sequencing identified a novel homozygous frameshift insertion (c.95_96insT, p.W33Lfs*14) in DYM, which likely leads to nonsense-mediated decay (NMD). Conclusion: The novel frameshift change verifies the fact that pathogenic variants in DYM are the most frequent cause of DMC.