Cases reported "Infant, Newborn, Diseases"

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1/121. Congenital retarded myelinization in a new-born child with infantile spasms.

    A new-born child with frequent infantile spasms was investigated. In a cachectic state it died at the age of 11 months. biopsy of the cerebral cortex revealed a retarded myelinization; at autopsy this slight myelinization was found again. The ganglioside pattern suggested a developmental stage of approximately 3 months before birth. This is a case with a congenital failure of myelinization.
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keywords = cerebral
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2/121. Power Doppler ultrasound imaging in neonatal cerebral venous sinus thrombosis.

    Neonatal sinus thrombosis is a rare occurrence in sick neonates. Because of its nonspecific manifestations, the incidence is underestimated. This disease may not be demonstrated by conventional color Doppler and is diagnosed by computed tomography or magnetic resonance imaging. The authors report a neonate with neonatal sinus thrombosis diagnosed by power Doppler and suggest that the technique may be used as a less expensive and more available screening and follow-up method in high-risk neonates.
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ranking = 4
keywords = cerebral
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3/121. Variants of congenital ocular motor apraxia: associations with hydrocephalus, pontocerebellar tumor, and a deficit of vertical saccades.

    BACKGROUND: Congenital ocular motor apraxia (coma) is characterized by the inability to generate volitional horizontal saccadic eye movements in the absence of other focal neurologic abnormalities. SUBJECTS: We report on two children (ages 5 months and 3 years) whose coma did not adhere to these classic criteria. The children were followed up clinically with serial ocular motor examinations and neuroimaging over a period of 3 years. RESULTS: In the first child horizontal coma was associated initially with neonatal communicating hydrocephalus. Two and one half years after the first signs of coma, a fourth ventricle medulloblastoma appeared. The second child, who recovered from a periventricular hemorrhage caused by perinatal asphyxia, manifested vertical coma and compensatory vertical head thrusts. CONCLUSIONS: coma may be associated with hydrocephalus, pontocerebellar tumor, and periventricular hemorrhage. These rare variants of coma emphasize that the eye movement deficits may arise from several locations, cerebral as well as pontocerebellar, in the neuronal pathways generating saccades.
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keywords = cerebral
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4/121. Severe factor v deficiency and neonatal intracranial haemorrhage: a case report.

    We report a case of severe factor V (FV) deficiency (<1%) associated with multiple episodes of intracranial bleeding which presented at birth. The clinical course was further complicated by the development of an inhibitor, episodes of sepsis and cardiac failure. The management using virally inactivated FFP and platelets is discussed.
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ranking = 37.202143176086
keywords = haemorrhage
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5/121. Clinical efficacy and recovery levels of recombinant FVIIa (NovoSeven) in the treatment of intracranial haemorrhage in severe neonatal FVII deficiency.

    The use of replacement FVII is critical to the successful treatment of life-threatening bleeds in newborns and infants with severe FVII deficiency (<1%). However, the clinical efficacy, optimum dosage and pharmacologic recovery of rFVIIa in such children has not been studied systematically. This report is a case of an infant with severe FVII deficiency (FVII:C at 0%) and massive intracranial haemorrhage in which successful use of rFVIIa (NovoSeven) was carefully monitored. The drug was administered by intravenous bolus through a central line every 4 h at each of three dose levels: 15 microg kg-1, 22 microg kg-1 and 30 microg kg-1. FVII:C was >100% between 30 and 180 min after each infusion with mean trough levels above 25% for all three dose levels. There was no evidence of hyper-coagulation as indicated by measurements of the platelet count, D-dimer, plasma protamine paracoagulant and fibrinogen levels in spite of high FVII:C concentration. In this infant, rFVIIa was well-tolerated, maintained effective haemostasis with good clinical outcome, and produced consistent therapeutic mean trough levels above 25% FVII:C even at 15 microg kg-1 every 4 h.
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ranking = 46.502678970108
keywords = haemorrhage
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6/121. Congenital intracranial teratoma.

    Congenital intracranial teratoma is a rare disease. A fetus with a congenital intracranial teratoma presenting with a disproportionately enlarged head at 27 weeks gestation is presented. Prenatal ultrasonography and fetal magnetic resonance imaging demonstrate a huge, heterogenous intracranial mass in the left supratentorial region, with the left cerebral hemisphere being compressed and flattened. The infant died of respiratory failure within 24 hours of birth at 28 weeks gestation. On postmortem examination the histologic report revealed an immature teratoma. Fetal MRI is helpful in the prenatal diagnosis and evaluation of intracranial tumor.
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ranking = 1
keywords = cerebral
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7/121. Neonatal brain tissue embolism in the lung.

    A brain tissue embolus was observed in a major pulmonary artery in the right lung, in a neonate who died from intracranial haemorhage 36 hours after delivery. This is the fifth documented case in a neonate and the only one in whom survival had occurred beyond one hour. brain tissue emboli in the pulmonary circulation occur very rarely; it has been described in adults and children with head injuries. In newborn infants with severe congenital malformations of the central nervous system, brain tissue has been found growing in the lungs; the possibility of this being the result of prenatal brain trauma with embolization has been raised. In newborn infants, pulmonary brain tissue embolism as a result of birth trauma has been reported only very rarely; as far as the authors are aware, only four such cases have been documented. In view of the rarity of this condition, it was thought that the present case merited reporting.
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ranking = 0.12209874487123
keywords = brain
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8/121. Neonatal cerebral ischaemia with elevated maternal and infant anticardiolipin antibodies.

    A baby girl born by elective lower segment caesarean section was found to have left-sided focal seizures at 48 hours after birth. Her mother had previously had a neonatal death at 26 weeks' gestation and another child born at 32 weeks' gestation had a congenital right hemiplegia with a left middle cerebral artery infarct on CT scan. The mother had raised anticardiolipin IgG antibodies at the time of delivery of her second child, with no thrombotic symptoms. Therefore, during this pregnancy, she had been treated with low molecular weight heparin and aspirin. The baby's mother had raised IgG and IgM anticardiolipin antibodies and the baby had IgG anticardiolipin antibodies at the upper range of normal 4 days after delivery. The seizures were controlled with phenobarbitone and phenytoin. CT and MRI scans showed evidence of cerebral ischaemia. A repeat MRI scan at 4 months of age was normal, anticonvulsants were discontinued, and her latest neurological examination at 5 months was normal.
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ranking = 6
keywords = cerebral
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9/121. Neonatal disseminated herpes simplex virus infection with encephalitis treated with cytosine arabinoside.

    herpes simplex encephalitis was diagnosed by immunofluorescence and histology of a brain biopsy on the 19th day of life in a neonate in whom symptoms had begun at 12 days. Treatment with steroid, diuretic and cytosine arabinoside was begun and initially there was dramatic improvement in the symptoms. This improvement was not sustained, however, and the infant developed evidence of severe brain-damage. Disseminated herpes simplex virus infection is discussed and available therapy for this severe disease is outlined.
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ranking = 0.030524686217808
keywords = brain
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10/121. Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).

    Early-infantile epileptic encephalopathy (EIEE) with suppression-bursts is a severe neonatal epileptic encephalopathy. The etiology is multiple, with cerebral malformations as the more frequent. We review the clinical and video/EEG aspects of eight infants with EIEE. These infants, aged between 4 and 70 days at the time of video/EEG recordings, were studied in relation to their clinical and video/EEG characteristics, evolution, persistence of suppression-burst pattern and etiology. Seven of the eight infants showed an ictal clinical sign correlated to the burst of the suppression-burst pattern, four of whom died within 11 months of age. The other three are alive. One, now aged 4 years, underwent surgery for hemimegalencephaly and is seizure-free, with good neurological outcome. One, now aged 9 months, was pyridoxine-dependent and she is seizure-free, and with normal neurological evolution under pyridoxine therapy. One, now aged 3 years and 9 months, is seizure-free, but with severe neurological and cognitive impairment. The only child who did not show a clinical ictal correlation of burst is also alive, now aged 3 years and 9 months, with drug-resistant epilepsy, and severe neurological and cognitive deficits. With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. Our study confirms that EIEE is a severe age-dependent early epileptic encephalopathy. The etiology is mostly malformative. The prognosis is poor regarding motor and cognitive development, seizures, as well as life expectancies. The presence of an ictal burst of the suppression-burst pattern usually correlates with a negative outcome.
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ranking = 1
keywords = cerebral
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