Dysencephalia Splanchnocystica, AKA Meckel–Gruber syndrome: A Systematic Review and the First Case Report from Iraq

Background- Meckel-Gruber syndrome is categorised under the broad “umbrella” of syndromic ciliopathies. There is a shortage of epidemiological studies surveying the region of the Middle East and Arabic countries. Materials and methods- The review of the literature was conducted systematically, from the 1st to the 9th of June 2018, across medical and paramedical electronic databases including PubMed-NCBI, the Cochrane Library, and Elsevier database via predefined Medical Subject Headings (MeSH) terms. The words used included all possible combinations of synonyms for Meckel syndrome, Meckel-Gruber syndrome, Gruber syndrome, Dysencephalia Splanchnocystica, ciliopathies, and syndromic ciliopathies. Results- The total number of hits for all databases was 2089963 distributed as 2085668 (NCBI-PubMed), 1052 (The Cochrane Library), and 3243 (Elsevier). The most informative combination of keywords was [(Ciliopathies AND “Meckel syndrome type-1”]. The total number of reference material was restricted to twenty-six. The level-of-evidence of our study is level-2b, by the categorisation scheme adopted by the Oxford Centre for Evidence-based Medicine. Our case report represents the first documented case in literature from Iraq. The diagnosis was based on the history of consanguinity of the parents, prior history of induced abortion of a malformed male fetus, and the diagnostic clinical triad postnatally of occipital encephalocele, post-axial polydactyly, and polycystic kidneys manifested as bilateral abdominal distension primarily affecting the loin. Conclusion- Future cases from Iraq should be investigated, via ecological and aggregate analytics, in correlation with chemical and radiological exposure following the American invasion of Iraq.