Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on two Somalian sibs with severe developmental retardation and spastic cerebral paresis. Both children have bilateral cerebral clefts in the Sylvian region with dilatation of the ventricles, absence of the septum pellucidum, and heterotopia. The diagnosis of familial schizencephaly was made. The occurrence of schizencephaly in two affected sibs supports a genetic basis for schizencephaly.
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PMID:Familial schizencephaly: further delineation of a rare disorder. 778 81

We present an unusual complication of midtrimester genetic amniocentesis of a monochorionic twin gestation in which prolonged fetal bradycardia of 60 to 80 beats per minute sustained over two hours was associated with multiple subsequent fetal anomalies. These included: microcephaly, bilateral closed-lip schizencephaly, duodenal atresia, and complete paresis of the left upper extremity. Etiology of the fetal bradycardia was unclear. Fetal hemorrhage was not visualized despite targeted, continued real-time ultrasonography and was therefore considered an unlikely etiology. Although the bradycardia and associated hypoperfusion could alone explain the fetal outcome, destabilization of hemodynamics of a communicating vessel, resulting in a possible (although unproven) acute twin-twin transfusion induced at the time of amniocentesis due to decreased intra-amniotic pressure in association with a velamentous umbilical cord insertion could have led to this unusual occurrence.
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PMID:Midtrimester genetic amniocentesis of a twin gestation complicated by immediate severe fetal bradycardia with subsequent associated fetal anomalies. 886 80

Clinical and neuroimaging characteristics of congenital hemiparesis were examined in a retrospective cohort study nested within 199,176 births within the Kaiser Permanente Medical Care Program, 1997-2002. Infants with a physician diagnosis of paresis or cerebral palsy were electronically identified, and charts were reviewed to confirm congenital hemiparesis. A neuroradiologist reviewed available head MRI and CT scans. Of 96 infants with congenital hemiparesis (population prevalence 4.8 per 10,000), 81% received either a head magnetic resonance imaging (n = 55) or head computed tomography only (n = 23). Perinatal arterial infarction was the most common (30%) neuroimaging finding in term infants. Infants with right-sided hemiparesis (relative risk 4.6, 95% confidence interval 1.4-14.4) or moderate to severe weakness (relative risk 4.4, 95% confidence interval 1.1-17.7) were more likely to have had a perinatal arterial infarction. Periventricular white matter lesions predominated in preterm infants (71%). Brain malformations observed in 14 (18%) patients included polymicrogyria, heterotopia, and schizencephaly. The 14 infants (18%) with a normal head imaging study were more likely to outgrow all signs of hemiparesis by age 3 than were infants with an abnormal brain image (29% vs 0%, P < 0.001). Neuroimaging studies provide useful diagnostic and prognostic information in infants with congenital hemiparesis.
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PMID:Neuroimaging abnormalities in infants with congenital hemiparesis. 1693 59

A 24-year-old man presented with closed-lip schizencephaly around the right central sulcus manifesting as an 11-year history of intractable epilepsy. Mild motor paresis in the left extremities and mental retardation were observed. Tonic posture with bilateral facial tonic contraction was asymmetrical, predominantly in the left extremities. Magnetic resonance imaging demonstrated closed-lip schizencephaly around the right central sulcus. The epileptogenic zone was determined in the supplementary motor area, and premotor and primary sensorimotor cortices using invasive recordings. As the thickened cortex was considered functional, corticectomy of the supplementary motor area and premotor area was performed, preserving the primary sensorimotor area. Histological examination revealed marked cortico-subcortical gliosis, particularly in the medial part of the resection. Asymmetrical tonic postural seizure disappeared completely after surgery. Medically intractable epilepsy with schizencephaly represents a considerable challenge in epilepsy surgery. Partial corticectomy adjacent to the thickened cortex was effective for seizure control in a patient with closed-lip schizencephaly around the central sulcus.
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PMID:Closed-lip schizencephaly around the central sulcus with intractable epilepsy treated by peri-lesional focus resection. 1803 9

Schizencephaly is an anomaly of the subtotal brain development, which occurs as the presence of a cleft lined with grey matter extending from subarachnoid space to the ventricles. It may be manifested by psychomotor retardation, paresis or partial seizures and drug-resistant convulsions. The clinical expression of schizencephaly depends on the bilaterality of the slit, its size and its seat. The diagnostic strategy of schizencephaly in the ante- and postnatal period has been revolutionised by MRI imaging, the only technique able to provide an accurate and complete lesional assessment, particularly in type I. We report the case of a 34-year-old pregnant woman at the 25th weeks of amenorrhea, who presented a super-refractory epileptic-status due to a right schizencephaly. The diagnosis of eclampsia was excluded. This case report is very particular cause of the late appearance of epileptic seizures in this pregnant woman who has never done so.
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PMID:A rare case of super-refractory epileptic status in pregnant woman: Schizencephaly. 3001 9

Schizencephaly is a very rare neurological disorder usually discovered during radiological evaluation of children and young adults with seizure disorders or neurodevelopmental anomalies. We present a 66-year-old patient with right-sided hemiatrophy and paresis presenting with an adult-onset seizure disorder. Her seizure was satisfactorily controlled with a single-therapy antiseizure drug. Congenital brain lesions should be part of the differential diagnoses in patients with epilepsy who have body asymmetry dated back to childhood.
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PMID:Adult-Onset Seizure Disorder Secondary to Schizencephaly. 3218 Nov 92