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  • 1
    Publication Date: 2013-07-23
    Description: Background and Purpose— To date, studies on neonatal stroke have mainly focused on cortical stroke. We have focused on perforator strokes, noncortical strokes in the arterial vascular perforator area. We sought to identify risk factors and evaluate clinical presentation and neuroimaging findings for neonatal perforator stroke, which seems to be under-recognized. Methods— All infants admitted to our tertiary intensive care unit in 12 years, whose perforator stroke was diagnosed with postnatal brain imaging, were enrolled in this study. Demographic, perinatal, and postnatal data were evaluated. Results— Seventy-nine perforator strokes were detected in 55 patients (28 boys), with a median gestational age of 37 1/7 weeks (range 24 1/7 to 42 1/7 weeks, 25 preterm). Perforator stroke was asymptomatic in most patients (58%). Initial diagnosis was predominantly made with cranial ultrasound (80%) in the first week of life (60%). Risk factors for stroke were present in all cases: maternal, fetal, and perinatal. Likely pathogenic mechanisms were prolonged birth asphyxia (16%), hypoxia or hypotension (15%), embolism (15%), infection (15%), acute blood loss (9%), and birth trauma (9%). Conclusions— Previously described risk factors for developing neonatal main artery stroke are probably also associated with neonatal perforator stroke. Perforator stroke is often asymptomatic, but cranial ultrasound is a reliable diagnostic tool in diagnosing perforator stroke.
    Keywords: Stroke in Children and the Young
    Print ISSN: 0039-2499
    Electronic ISSN: 1524-4628
    Topics: Medicine
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  • 2
    Publication Date: 2013-06-07
    Description: Two siblings from consanguineous parents died perinatally with a condition characterized by generalized hypotonia, respiratory insufficiency, arthrogryposis, microcephaly, congenital brain malformations and hyperglycinemia. Catalytic activities of the mitochondrial respiratory complexes I and II were deficient in skeletal muscle, a finding suggestive of an inborn error in mitochondrial biogenesis. Homozygosity mapping identified IBA57 located in the largest homozygous region on chromosome 1 as a culprit candidate gene. IBA57 is known to be involved in the biosynthesis of mitochondrial [4Fe-4S] proteins. Sequence analysis of IBA57 revealed the homozygous mutation c.941A 〉 C, p.Gln314Pro. Severely decreased amounts of IBA57 protein were observed in skeletal muscle and cultured skin fibroblasts from the affected subjects. HeLa cells depleted of IBA57 showed biochemical defects resembling the ones found in patient-derived cells, including a decrease in various mitochondrial [4Fe-4S] proteins and in proteins covalently linked to lipoic acid (LA), a cofactor produced by the [4Fe-4S] protein LA synthase. The defects could be complemented by wild-type IBA57 and partially by mutant IBA57 . As a result of the mutation, IBA57 protein was excessively degraded, an effect ameliorated by protease inhibitors. Hence, we propose that the mutation leads to partial functional impairment of IBA57, yet the major pathogenic impact is due to its proteolytic degradation below physiologically critical levels. In conclusion, the ensuing lethal complex biochemical phenotype of a novel metabolic syndrome results from multiple Fe/S protein defects caused by a deficiency in the Fe/S cluster assembly protein IBA57.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 20 (1990), S. 139-142 
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A retrospective study of the CT data of the brain was carried out in 48 newborns with neonatal subarachnoid hemorrhage. In addition to the posterior interhemispheric opacities generally accepted as an index of this type of bleeding, anterior interhemispheric, paravermian, cisternal and supratentorial hyperdensities must also be taken into account. CT may be helpful in assessment of the amount of blood lost in the extraosseous epicranial tissues. This amount correlates with the severity of intracranial bleeding and may thus be an index of the degree of mechanical trauma. Major pitfalls leading to overdiagnosis are discussed.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 0942-0940
    Keywords: Tentorium ; newborn ; subdural haemorrhage ; hydrocephalus ; vacuum extraction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary From the history of 15 personal patients—8 reported here in extenso — and from 63 patients in the literature with the diagnosis of posterior fossa subdural haemorrhage during life, we discuss the possibility of detecting tentorial damage on computed tomography (CT) and ultrasound (US) scan. The association of a (peri)cerebellar haemorrhage with peritentorial bleeding around the straight sinus and a subdural haemorrhage between both occipital cerebral lobes is suggestive of tentorial laceration(s). Both coronal CT scan and sagittal US scan are very helpful in locating these haemorrhages near the falco-tentorial junction. The conservative management of one of our infants with very extensive but asymmetric posterior fossa haemorrhage, leading to resorptive hydrocephalus, is compared with both surgical and conservative treatment of patients from the literature. Two reasons that warrant neurosurgical intervention are: life-threatening brain-stem compression—as in one of our own patients—and acute obstructive hydrocephalus. Craniotomy of the posterior fossa within the neonatal period does not prevent later-onset resorptive hydrocephalus. The communicating nature of this latter process is adequately demonstrated by lumbar isotope cisternography. Finally, neonatal posterior fossa subdural haemorrhage is one of the many causes of cyst-like structures behind the cerebellum.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Unilateral thalamic bleeding with associated intraventricular hemorrhage is reported in three full-term neonates. The first presented within 48 hours from birth with early onset streptococcal meningitis, persistent pulmonary hypertension, tonic seizures and a tense fontanelle. The second presented 6 days after birth with irritability, opisthotonus, a tense fontanelle and tonic seizures. The third was admitted three days after birth with seizures and a tense fontanelle. In the latter two infants NMR and CT imaging documented thrombosed superficial and deep cerebral veins. The etiopathogenesis of intracranial venous thrombosis in the neonate is diverse: asphyxia, dehydration, polycythemia, sepsis-meningitis and difficult delivery are the main causes. In one of our patients jugular vein compression by the collar of a negative-pressure ventilation chamber probably initiated the intracranial events. More than half of the survivors sustain severe neurological impairment.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 22 (1992), S. 417-418 
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A newborn with a leptomeningeal cyst over the anterior fontanelle due to birth trauma is described. Color Doppler flow sonograms were helpful to diagnose the leptomeningocele in its early stages and to differentiate it from a cephalhematoma or subgaleal haemorrhage by demonstrating cerebro-fugal flow in an arterial connection between the extracranial fluid collection and the dural space.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 150 (1991), S. 685-686 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 532-535 
    ISSN: 1432-1076
    Keywords: Vacuum extraction ; Subgaleal bleeding ; Newborn CT scan
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a population of 27 flemish newborns with subgaleal bleeding encountered within a period of 6 years, we studied the obstetrical, clinical and radiological data. In contrast with controversial findings from the available literature, there is little doubt that difficult, often elective vacuum extraction is the main cause of this neonatal emergency. Disturbances in haemostasis, when documented, were attributed to focal intrahaematoma consumption, except for one boy who presented with haemophilia and neonatal subgaleal bleeding. Conventional X-ray examination continues to be of importance for the documentation of suture diastasis, fissures and fractures. CT scan reveals both the amount of extra-osseous bleeding, the degree of bone displacement and injury as well as the type and extent of associated intracranial damage. Subgaleal haemorrhage rarely hides a growing synchrondrosal rupture.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1989), S. 412-413 
    ISSN: 1432-1076
    Keywords: Sino-cortical-width index ; Ultrasound ; Subarachnoid space ; Infancy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An original non-invasive method for easy and reproducible measurement of the subarachnoid space width in infants is described. Preliminary results of normal values during the neonatal period are presented as well as of the validity of the ultrasound method for abnormal values obtained by available computed tomography scanning.
    Type of Medium: Electronic Resource
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