[P3-149] Mental Retardation and Microcephaly with Pontine and Cerebellar Hyooolasia (MICPCH): case report and literature review
Inreoduction: we report one case with Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) by finding mutation in CASK, which is an X-linked dominant disease. Methods: we collected the following information about the patients with microcephaly and cerebellar hypoplasia: course of disease, EEG results, imaging results and genetic analysis of the family. And we finally made a definite diagnosis by finding mutations in CASK. Results: this is a preterm boy born at 34 weeks and she is now 4 months and 11 day old. Anoxia asphyxia happened at birth. When she was 37 days old, convulsions occurred and she was diagnosed as epilepsy based on the following examination results: broad gyri and shallow anfractuosity in MRI one day after birth and white matter dysplasia, microcephaly and cerebellar atrophy in MRI 42 days after birth; bilateral unsynchronized and asymmetrical medium-high amplitude spike (sharp) and spike (sharp) slow waves in bilateral frontal leads, central leads, central temporal leads, occipital leads in EEG. Her psychomotor development started to retrogress since convulsions. Exon sequencing identifies a mutation in exon20 of CASK (chrX:41414858, c.1837C>T). This is a nonsense mutation and his mother is a carrier. After medication, physical therapy and supportive treatment, no obvious improvement was seen and her psychomotor development still lagged behind. Conclusion: Genetic analysis for CASK gene will be helpful in diagnosing MICPCH.