1/9. Cytochrome oxidase deficiency presenting as birth asphyxia.Hypoxic-ischaemic encephalopathy (HIE) was diagnosed in an infant with acidosis. At 7 weeks of age further investigations revealed abnormal neuroimaging (CT and MRI scans) and a raised plasma and CSF lactate. A skeletal-muscle biopsy at 2 months of age confirmed the diagnosis of cytochrome oxidase deficiency. The course of the patient's disorder has taken that of a static encephalopathy (cerebral palsy). Inborn disorders of the respiratory chain should be considered in the differential diagnosis of HIE.- - - - - - - - - - ranking = 1keywords = asphyxia (Clic here for more details about this article) |
2/9. Possible mechanisms in infants for selective basal ganglia damage from asphyxia, kernicterus, or mitochondrial encephalopathies.magnetic resonance imaging and neuropathologic studies have demonstrated remarkably selective patterns of injury to subregions of the basal ganglia in children. Examples are kernicterus and certain mitochondrial encephalopathies, which cause selective injury to the globus pallidus, and near-total perinatal asphyxia, which causes lesions in the putamen and thalamus. To explain the differential vulnerability of nuclei within millimeters of each other, we hypothesize that their locations within the neurotransmitter-specific circuitry of the basal ganglia motor loop are important. In severe hypoxic-ischemic encephalopathy, excitatory glutamatergic pathways into the putamen and thalamus are overactive, but the globus pallidus might be protected because its activity is silenced by inhibitory neuronal activity. In contrast, the relatively high resting neuronal activity in the globus pallidus might make it more vulnerable to less intense, subacute oxidative stresses from mitochondrial toxins such as bilirubin or from genetic mitochondrial disorders. This hypothesis has implications for designing neuroprotective therapies and for treating associated chronic movement disorders.- - - - - - - - - - ranking = 1.25keywords = asphyxia (Clic here for more details about this article) |
3/9. time course of changes in diffusion-weighted magnetic resonance imaging in a case of neonatal encephalopathy with defined onset and duration of hypoxic-ischemic insult.The onset and duration of hypoxic-ischemic (HI) insults rarely can be determined precisely in perinatal asphyxia. The need to establish the timing of HI insults will be critical for the successful application of evolving neuroprotective therapies that may be administered to the asphyxiated newborn. diffusion-weighted magnetic resonance imaging has emerged as an imaging technique that can be used to identify HI brain injury before the detection of abnormalities by conventional magnetic resonance imaging. This case illustrates the early changes in diffusion-weighted and conventional magnetic resonance imaging studies and in quantitative values of the apparent diffusion coefficient in a unique case of neonatal asphyxia in which the onset and duration of the HI insult were known.hypoxia-ischemia, newborn brain, perinatal asphyxia, diffusion-weighted imaging, proton magnetic resonance spectroscopy.- - - - - - - - - - ranking = 1keywords = asphyxia (Clic here for more details about this article) |
4/9. Cochleosaccular pathology after perinatal and postnatal asphyxia: histopathologic findings.OBJECTIVE: This study describes the histopathologic findings of a patient with severe bilateral sensorineural hearing loss after perinatal and postnatal hypoxia and asphyxia. STUDY DESIGN: Histopathologic examination on the temporal bones. SETTING: The study was performed at the Elizabeth McCullough Knowles Otopathology Laboratory, Division of Otopathology, Department of otolaryngology, University of Pittsburgh School of medicine, Pittsburgh, PA, USA. RESULTS: Histopathologic examination on the left temporal bone revealed severe atrophy of the organ of corti throughout the entire cochlea, decrease in the number of the spiral ganglion cells especially in the basal turn, and mild atrophy of saccular macula. In the right temporal bone, similar abnormalities were observed in the inner ear, but the changes were milder than those in the left temporal bone. No other distinct pathologic finding was observed in either ear. CONCLUSION: These findings suggest that the presence of severe hypoxic ischemia causes cochleosaccular atrophy. To our knowledge, this is the first histopathologic case report describing the long-term effect of perinatal and postnatal hypoxia and asphyxia that produced cochleosaccular abnormalities in the human inner ear.- - - - - - - - - - ranking = 1.5keywords = asphyxia (Clic here for more details about this article) |
5/9. Severe newborn encephalopathy unrelated to intrapartum hypoxic events: 3 case reports.INTRODUCTION: Newborn encephalopathy is an important clinical problem associated with considerable morbidity and mortality and is pertinent in the assignment of blame in obstetrics litigation. CLINICAL PICTURE: We report 3 babies with severe neonatal encephalopathy. OUTCOME: In all 3 cases, intrapartum hypoxic insult was unlikely to be a significant contributing factor towards the development of neonatal encephalopathy. The aetiology was unclear in the first 2 cases and there was antecedent antenatal cause of feto-maternal haemorrhage in the last case. CONCLUSION: Prevention of neonatal encephalopathy was not possible in these 3 cases. We recommend that umbilical cord blood gases be clearly documented in such cases to reduce unnecessary obstetrics litigation of intrapartum asphyxia as the significant contributing factor to the poor neonatal outcome. Clinicians must have a high index of suspicion of antecedent causes and perform the necessary investigations to elucidate the aetiology of the neonatal encephalopathy.- - - - - - - - - - ranking = 0.25keywords = asphyxia (Clic here for more details about this article) |
6/9. Symmetrical thalamic calcifications in a monozygotic twin: case report and literature review.We report the occurrence of symmetrical thalamic calcifications (STC) in one of a pair of monozygotic twins born at term without evidence of pre- or peri-natal asphyxia. STC is known to be an extremely rare condition in infants. Judging from the few cases reported in the literature, the clinical presentation is very severe: low apgar score, no spontaneous movements, spasticity or marked hypotonia, impaired suck and swallow, facial diplegia. The prognosis is also very poor. The etiology is still a matter of debate: genetic, infectious, toxic or hypoxic-ischemic insults have been hypothesized. In our case, the presence of the lesion in one of a pair of monozygotic twins would rule out any genetic origin, nor was there any evidence of toxic or infectious disease. The only potential risk factor for fetal damage was hypoxic-ischemic insult related to the twin pregnancy.- - - - - - - - - - ranking = 0.25keywords = asphyxia (Clic here for more details about this article) |
7/9. Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy.Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable seizures (often of prenatal onset) and severe neurological abnormalities. In infants who survive, lens dislocation may occur from 8 weeks of age. The neuropathological findings in ISOD are similar to those seen in severe perinatal asphyxia. We describe two siblings with ISOD born to healthy non-consanguineous parents. The first child presented within 48 h of birth with poor feeding and seizures. He died from septicaemia on day 20 of life. The clinical presentation, neuroradiology and autopsy suggested a diagnosis of severe hypoxic ischaemic encephalopathy with a low recurrence risk. The second child presented with seizures within an hour of birth. She lived for 16 months during which time she failed to make developmental progress and continued to experience intractable seizures. Her neuroradiology was similar to her brother's. A diagnosis of ISOD was suggested from high urinary S-sulphocysteine in the second child and confirmed by the absence of sulphite oxidase activity in skin fibroblast culture. The diagnosis has enabled the couple to access prenatal testing in a subsequent pregnancy. CONCLUSION: Isolated sulphite oxidase deficiency is an autosomal recessive condition which may mimic ischaemic encephalophathy. The disorder should be considered in all cases of intrauterine seizures, intractable seizures in the newborn period and infants with clinical and radiological features of ischaemic encephalophathy, especially when no obvious insult can be determined.- - - - - - - - - - ranking = 0.25keywords = asphyxia (Clic here for more details about this article) |
8/9. Changes of lactate, glucose, ionized calcium and glutamate concentrations in cephalic vein blood during brain hypothermia using extracorporeal membrane oxygenation (ECMO) in a newborn infant with hypoxic-ischemic encephalopathy.An asphyxiated infant with severe hypoxic-ischemic encephalopathy was treated by brain hypothermia using extracorporeal membrane oxygenation (ECMO). The brain hypothermia using ECMO maintained cardiopulmonary functions and stabilized brain temperatures by stably supply of the cooled blood to the brain. Moreover,we measured the levels of glucose, lactate, ionized calcium and glutamate in plasma. The comparison between these levels in the artery and in the cephalic vein, suggests that glucose, lactate, ionized calcium and glutamate might be used as markers of the effects of hypothermia therapy.- - - - - - - - - - ranking = 0.25keywords = asphyxia (Clic here for more details about this article) |
9/9. Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. diffusion-weighted imaging of the brain demonstrates widespread diffusion restriction, and proton magnetic resonance spectroscopy shows an elevated lactate level, a decrease in the ratio of N-acetylaspartate to creatine, and a rise in the ratio of choline to creatine. This precedes severe cystic encephalomalacia and suggests that the energy failure associated with neuronal dysfunction and myelin disintegration occurs early in isolated sulfite oxidase deficiency.- - - - - - - - - - ranking = 0.25keywords = asphyxia (Clic here for more details about this article) |