Tonic‐Clonic Seizures in a Fetus With Pena‐Shokeir Syndrome

Knudtson, Eric; Lorenz, Landon B.; Wilson, Patrick L.; McDaniel, Brian; Mulvihill, John J.; Dannaway, Douglas

doi:10.7863/jum.2009.28.8.1121

Cited by 3 publications

(5 citation statements)

References 9 publications

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“…We, to our knowledge, for the first described fetal seizure‐like movements and their video‐recording at the same time. Although two reports previously showed video‐records of fetal seizures, one was clonic‐seizure‐like movements only and the other is no longer available . Also, these two case reports did not provide at the same time observation/recording of seizure movements and CTG monitoring.…”

Section: Discussionmentioning

confidence: 98%

“…We excluded articles before 1980 because ultrasound at that time may not have been suitable for detecting fetal seizures. Consequently, 23 cases of fetal seizures were retrieved (Table ) . Congenital structural abnormalities, including lissencephaly and Pena‐Shokeir syndrome, accounted for a half, whereas the remaining half were of unknown etiology.…”

Section: Discussionmentioning

confidence: 99%

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Fetal seizure: A video recording and possible etiology

Takahashi

Matsubara

Horie

et al. 2019

J of Obstet and Gynaecol

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Fetal seizure is rarely observed. Investigation of both video-recording of seizures and cardiotocography is crucial for a precise diagnosis. Here, we report a case of fetal seizure, and also show a video-ultrasound recording. A 40-year-old woman was admitted to us due to loss of variability in cardiotocography. Ultrasound repeatedly revealed opisthotonus-like and clonic-seizure-like movements. After the abnormal movement, tachycardia up to 210 bpm (postictal tachycardia) was noted. Ultrasound revealed a nuchal cord. A careful investigation of video-ultrasound recording by an epilepsy specialist led to the confirmation of epileptic seizures. At 36 4/7 , she vaginally gave birth to an infant with an umbilical artery pH of 7.22. The infant died 30 min after birth. No clear video-recordings associated with fetal seizure were available for cases reported so far in the literature. The video provided in this case may be of use for further analyses.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Fetal seizure: A video recording and possible etiology

Takahashi

Matsubara

Horie

et al. 2019

J of Obstet and Gynaecol

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“… 69 There are, however, cases describing redirection of care from life-sustaining treatment (invasive ventilation) to comfort care after discussion with the parents. 72 , 73 …”

Section: Antenatal Diagnosismentioning

confidence: 99%

“… 77 A karyotype should be done on all neonates with this phenotype to exclude Trisomy 18 as the two conditions share many common phenotypic features. 73 , 76 , 78 For those undergoing continued care, prolonged mechanical ventilation can be expected and a tracheostomy may have to be considered if extubation is not possible. 74 In addition, pulmonary hypertension may be present and may require treatment with sildenafil or iloprost to decrease the pulmonary pressures.…”

Section: Antenatal Diagnosismentioning

confidence: 99%

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Pena-Shokeir syndrome: current management strategies and palliative care

Adam¹,

Coetzee²,

Honey³

2018

TACG

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Pena–Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Antenatal diagnosis can be difficult. Ultrasound features are varied and may overlap with those of Trisomy 18. The poor prognosis of PSS is due to pulmonary hypoplasia, which is an important feature that distinguishes PSS from arthrogryposis multiplex congenital without pulmonary hypoplasia, which has a better prognosis. If diagnosed in the antenatal period, a late termination of pregnancy can be considered following ethical discussion (if the law allows). In most cases, a diagnosis is only made in the neonatal period. Parents of a baby affected with PSS require detailed counseling that includes information on the imprecise recurrence risks and a plan for subsequent pregnancies.

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