Case Report: Differential Diagnosis of a Cerebral Palsy-like Syndrome

Resumo

Cerebral palsy (CP) was described by William John Little (1843) and named by Sigmund Freud (1897). Chromosome 19 has high gene density, with about 2,000 genes. A 9-year-old patient, born with neonatal anoxia, shows severe developmental delays and dysmorphic features, such as microcephaly and severe intellectual disability, with no speech or gait development. Parental karyotypes are normal, but the patient's was identified as 46,XY,dup 19.13. An SNP array detected a heterozygous 11.3 Mb duplication on 19p13.3p13.13. These findings suggest this duplication represents a new syndrome, responsible for the patient's phenotypic anomalies, challenging the initial diagnosis.