11/181. Neonatal neurologic prognostication: the asphyxiated term newborn. The pediatric neurologist is often requested to predict the neurologic outcome in an uncertain situation. A common and problematic clinical setting in which this occurs is the asphyxiated term newborn. This report reviews the predictive tools available for prognostication in this situation and formulates a practical paradigm that the authors hope will improve predictive accuracy and lessen uncertainty in this setting. ( info) |
12/181. Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression. ( info) |
13/181. Bilateral opercular syndrome caused by perinatal difficulties. Four patients with pseudobulbar palsy, mental retardation and various degrees of speech disturbance associated with perinatal difficulties are described as having an acquired type of opercular syndrome. There were two patients with fetal bradycardia and three with subarachnoid haemorrhage and neonatal convulsion. magnetic resonance imaging revealed cortical atrophy in the bilateral opercula with some signal abnormalities in the underlying white matter in common. Single photon emission computed tomography (SPECT) also confirmed the presence of hypoperfusion in the regions. Although the opercular syndrome is a clinical entity with a multitude of underlying pathologies, perinatal difficulties could be an important cause of the acquired type. ( info) |
14/181. Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures. An asphyxiated neonate with pyridoxine-dependent seizures and associated transient nonketotic hyperglycinemia is reported. Frequent seizures and their resultant hypoxic-ischemic insult may have led to the elevation of the cerebrospinal fluid glycine level in this patient. early diagnosis and treatment of pyridoxine-dependent seizures is essential for an improved neurologic outcome. ( info) |
15/181. Problems in the detection of intrapartum fetal asphyxia with intermittent auscultation. We present 4 cases of severe intrapartum fetal asphyxia occurring during spontaneous unaugmented labours at term in low-risk women. In each case the baseline heart rate was completely normal, and the only indication of asphyxia was markedly decreased variability detected with electronic fetal heart rate monitoring. Correct action was taken in 3 cases that probably prevented fetal death or reduced neonatal morbidity. In no case would intermittent auscultation have been able to identify the compromised fetus. ( info) |
16/181. Asphyxiating thoracic dysplasia in a lethal form: radiological and sonographic findings. The authors report a case of a lethal form of asphyxiating thoracic dysplasia (Jeune syndrome) in a newborn female with a narrow thoracic cage causing severe respiratory failure at birth. The diagnosis was unequivocally confirmed by radiographs of thorax and pelvis. This report emphasizes the importance of the radiological and sonographic features in establishing a correct diagnosis. ( info) |
17/181. 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. ( info) |
18/181. Neonatal cerebral venous thrombosis coexisting with bilateral adrenal hemorrhage. We report a case of severe perinatal asphyxia with both cerebral venous thrombosis and adrenal hemorrhage who survived with severe sequela including multicystic encephalomalasia, acquired microcephaly and blindness. Hematological investigations showed normal levels of anticardiolipin antibodies, protein c and S levels and activity, antithrombin iii levels. factor v Leiden mutation was negative. The adrenal hemorrhage resolved within three months with glucocorticoid therapy, the cerebral venous thrombosis resolved within two months without treatment. The literature on neonatal cerebral venous thrombosis is also reviewed. ( info) |
19/181. 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. ( info) |
20/181. "Shake hands"; diagnosing a floppy infant--myotonic dystrophy and the congenital subtype: a difficult perinatal diagnosis. myotonic dystrophy is a multi-organ disease inherited in a complicated way. Congenital myotonic dystrophy is a distinct entity with severe symptoms leading to a high rate of perinatal morbidity and mortality. The occurrence of congenital myotonic dystrophy often allows a subsequent diagnosis in the mother with important implications for her life, her further pregnancies and offspring. Genetic principles of anticipation and somatic mosaicism are involved and hamper the prenatal diagnostic possibilities. A family is presented in which maternal myotonic dystrophy and congenital myotonic dystrophy were diagnosed after the third pregnancy. The key features leading to the diagnosis were obstetric history, neonatal hypotonia and asphyxia, facial abnormalities in the mother together with the inability to bury eyelashes and delayed release of grip after shaking hands. The disorder is reviewed with respect to clinical symptoms, pathogenesis and genetics. ( info) |