Microcephaly with pontine and cerebellar hypoplasia (MICPCH): atypical presentation in female

Case presentation: LSLLMRG, female, 7 years old, presented with microcephaly and global hypotonia at birth, evolving to spastic tetraparesis. He started difficult-to-control epileptic seizures 3 of age. Skull MRI showed pontocerebellar hypoplasia. Mother a history two previous miscarriages, pregnancy complicated by bleeding. She was born term, Apgar 9/10, difficulty in sucking low weight gain the first month, addition significant delay developmental milestones. Exome collected 2020 variant uncertain significance heterozygosity CASK gene (Microcephaly pontine cerebellar hypoplasia - MICPCH OMIM #300749), associated very rare variants identified ARID1A TBX1 genes, related phenotypes partially overlapping one described case index. Genetic evaluation parents did not point similar pathogenic variants.