Expanding the natural history of CASK‐related disorders to the prenatal period

• DOI: 10.1111/dmcn.15419
• Publication Date: 2022-09-30T01:53:32Z
• Authors: Michal Gafner; Eugen Boltshauser; Fulvio D'Abrusco; Roberta Battini; Romina Romaniello; Stefano D'Arrigo; Ginevra Zanni; Zvi Leibovitz; Keren Yosovich; Tally Lerman‐Sagie
• Keywords: Microcephaly; CASK

To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period patients calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders.In this international multicentre retrospective study, we contacted a CASK parents' social media group colleagues expertise malformations asked them to supply clinical imaging information. Centiles standard deviations (SD) were calculated according age by nomograms.The study consisted of 49 (44 females 5 males). Information regarding head circumference was available 19 patients; 11 out had fetal below -2SD (range -4.1SD -2.02SD, mean gestational at diagnosis 20 weeks). Progressive deceleration growth rate observed 15 19. At birth, 42 -2SD. A total 6 fetuses TCD z-score -2 -5.88 -2.02).This expands natural history CASK-related disorders period, showing evidence progressive rate, -2SD, or small TCD. Most cases will not be diagnosed current recommendations for central nervous system routine assessment. Consecutive measurements genetic studies are advised presence rates TCD.Progressive can observed. transcerebellar diameter is an additional important manifestation. when within low range norm.