Clinical Reasoning: West syndrome, pontocerebellar hypoplasia, and hypomyelination in a 6-month-old boy.

NEUROLOGY(2018)

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摘要
A 6-month-old boy born to nonconsanguineous parents presented with intractable seizures from the fourth month of age. Oligohydramnios was detected in the last trimester of pregnancy. He was born at term by normal delivery (birthweight 2.9 kg). At birth he had weak cry, microcephaly (head circumference 31 cm, u003cthird centile), micrognathia, prominent nasal bridge, and radial deviation of both hands. Cranial and abdominal ultrasonogram and echocardiogram were normal.
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