Abstract
Background Wolf–Hirschhorn syndrome (WHS), which is characterized by a typical facial appearance,
growth retardation, mental retardation, seizures, and congenital cardiac defects,
has an estimated incidence of 1 per 50,000 births.
Case We report a case of a low birth weight neonate with WHS and seizures, as well as
persistent pulmonary hypertension in the early neonatal period. Apgar scores were
6 (1 minute) and 8 (5 minutes) with evident retraction. After admission to the neonatal
intensive care unit, the patient had tonic–clonic seizures with epilepticus 30 minute
after birth. Although the seizures were uncontrollable, continuous thiopental administration
was effective for seizure mitigation.
Conclusion Neonatal seizures with WHS occur rarely. This is the first case report on seizures
just after birth in a neonate with WHS.
Keywords
Wolf–Hirschhorn syndrome - seizure - neonate - persistent pulmonary hypertension
