polyhydramnios/епилептични припадъци

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Antecedents and outcome of very early neonatal seizures in infants born at or after term.

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Recent experimentally derived evidence has confirmed earlier suggestions that seizures which occur within 48 h of birth in babies born at or later than 37 completed weeks gestation are particularly likely to reflect intrapartum asphyxia. We have compared 54 cases of such seizures with 41,090

Fetal seizures: a case study.

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BACKGROUND A review of the literature and an extensive Medline search revealed that this is the first case report of fetal seizures diagnosed by ultrasound. METHODS A 23-year-old woman was found to have a fetus with bilateral choroid plexus cysts during a second-trimester ultrasound examination.

Polyhydramnios with maternal lithium treatment.

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Severe polyhydramnios, probably due to fetal lithium toxicity, is described. The mother had been treated with lithium because of manic-depressive psychosis. The plasma lithium level during the pregnancy was in or below the therapeutic range. From the 26th week of gestation, polyhydramnios developed.

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

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Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is an ultra rare neurodevelopmental disorder characterized by severe, infantile-onset intractable epilepsy, neurocognitive delay, macrocephaly, and craniofacial dysmorphism. The molecular diagnosis of this condition has thus

Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder.

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A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

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We used single nucleotide polymorphism (SNP) microarrays to investigate the cause of a symptomatic epilepsy syndrome in a group of seven distantly related Old Order Mennonite children. Autozygosity mapping was inconclusive, but closer inspection of the data followed by formal SNP copy number

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.

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Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with

Thanatophoric Dysplasia

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Clinical characteristics: Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: Other features common to type I and type II include: short

Normal Fetal Heart Rate Pattern in the Brain-damaged Infant: A Failure of Intrapartum Fetal Monitoring?

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> Objective: To describe the perinatal characteristics of neurologically impaired infants with normal intrapartum fetal heart rate (FHR) patterns. Methods: In a registry of 300 neurologically impaired singleton term infants, a retrospective chart review was undertaken to analyze those patients with

Neuropathologic documentation of prenatal brain damage.

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Neuropathologic evidence of prenatal brain damage, chiefly in cerebral white matter, was found in 25% of infants who died at 7 days of age or less, with a total of ten preterm (16%) and 12 term (48%) infants among the 89 subjects studied. Few clinical features distinguished infants with prenatal

Isolated lissencephaly sequence with contiguous gene deletion detected by FISH analysis: a case report.

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BACKGROUND Lissencephaly is a clinically and genetically heterogeneous malformation of the brain, usually leading to a severe disabling condition and seizures. The recent discovery of molecular techniques and identification of lissencephaly genes (e.g. LISI and DCX) has allowed etiologic diagnosis

Fetal brain death syndrome--a case report and literature review.

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This case describes a new feature of fetal brain death syndrome, abnormal movements mimicking fetal convulsions being subsequently found to be decerebrate hypertonicity in a brain-dead fetus. It also confirms the diagnostic criteria of fetal brain death, both clinical and ultrasonic. The development

Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study.

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Fetal adducted thumbs have been described in association with hydrocephalus and other abnormalities, but in cases without other structural malformations the determination of prognosis and recurrence risk is challenging. The aim of our study is to analyze the characteristics, natural history, and

Tachyarrhythmia, cardiac rhabdomyomata and fetal hydrops in a premature infant with tuberous sclerosis.

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An hydropic infant was delivered at 32 weeks gestation by emergency Caesarean section for acute polyhydramnios. A diagnosis of cardiac rhabdomyomata was made on echocardiography. The baby survived 10 days, during which time repeated episodes of supraventricular tachycardia occurred. She eventually

Familial pontocerebellar hypoplasia type I with anterior horn cell disease.

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We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child presented with the classical clinical and neuropathological features of pontocerebellar hypoplasia with associated anterior horn cell disease, described by Barth as

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