Abstract
The patient was a 2, 808g female infant delivered vaginally following an uneventful pregnancy at 38 weeks of gestation. Apgar score at five minutes was 9, but rigidity of the extremities was found immediately after birth. At admission on day 3, initial physical examination revealed a poorly active infant showing tremulousness, and markedly regid extrmities, and poor traction response suggesting truncal hypotonia. Primitive reflex such as the Moro reflex and sucking reflex were absent throughout her life. She had no minor anomalies. Laboratory examination presented no abnormalities except for hyperbilirubinemia. The karyotype was 46XX, normal female.
The baby died of respiratory failure associated with apnea and atelectasis of the lung on the 165th day of life. Autopsy revealed “cerebellar hypoplasia (granular type)” and secondary hypoxic changes of the cerebral cortex.
It was concluded that the cerebellar hypoplasia in this case was caused prenatally during the intrauterin period due to lack of the granular layer of the cerebellar cortex.
