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While the number of survivors of term hypoxic-ischemic encephalopathy (HIE) is lower than the number of survivors of extreme prematurity, the proportion of neonates with long-term sequelae is higher. All neonates with Sarnat stages 2 (moderate) and 3 (severe) should be enrolled in follow-up programs. The present paper discusses the clinical and imaging diagnostic criteria for HIE, which are essential to decisions about follow-up. Prognostic indicators are also summarized. The recommendations for follow-up and intervention are based on the clinical condition of the baby at the time of discharge from intensive care, including an assessment of feeding, vision, hearing and whether seizures continue to be present. Early assessments (at four to eight months) focus on head growth, general health and motor neurodevelopment. Assessments at 12 to 24 months focus on cognitive skills and language development. Preschool assessments are also strongly recommended to provide for the identification of children requiring early education programs. Knowledge of long-term outcome and its secular changes enhance prognostication, and the evaluation of new preventive and therapeutic approaches.
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PMID:Follow-up of the term infant after hypoxic-ischemic encephalopathy. 1903 Feb 89

Rarely in the history of medicine has an X-linked mental retardation syndrome so thoroughly entered every branch of medicine, at least of pediatrics, but also of internal medicine, on account of its protean manifestations. In such countries as Zambia, malaria, tuberculosis, HIV, and other infections diseases, and many environmental and nutritional disorders still top the list of childhood morbidity and mortality. However, in the more developed nations of the Old and New Worlds, prematurity, birth defects, and genetic conditions constitute the major burden of infant mortality adn chronic childhood handicaps. One of the most pervasive of these is the group of FG syndromes seen in every pediatric clinic and mental health service. Thus, in our experience FGS emerges as the most common yet the least known developmental disabilities condition in our society. FGS imposes a tremendous burden of morbidity, and to some extent also of mortality, on society and families. After successful neonatal adaptation, such recurring problems as otitis, reactive airway disease, and constipation can be routinely treated symptomatically. However, the neurodevelopmental burden represents the greatest challenge that FGS presents for families and to society. Under the best of circumstances, motor and speech development catch up. However, virtually all FGS children, boys and girls, have difficulties in psychologic development, school performance, and ultimate emotional adaptation to adult life and social integration. The many such cases added to those with outright psychiatric disturbances are overwhelming social, psychologic, and psychiatric services and, above all, public and private school systems, which are understaffed, under-funded, beyond formulating individual educational plans, and helpless to deal with the enormous burden of special service needs of these children. It's time that handicapped children receive care according to needs and not according to diagnosis. However, the near absence of information on FGS available to these professionals is a handicap in arriving at a specific diagnosis (allowing state and federal support for special services) and in understanding the prognosis, natural history, and such complications as "autism," seizures, and tethered cord that affect the child's success at home, in school, and out in society. The FGS parent support group has been of enormous help in informing families about all of these "issues," and to this day remains the greatest repository of knowledge on FGS. As they say in baseball, it is time at long last for the professionals "to step up to the plate."
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PMID:The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. 1904 30

Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperinsulinism (HI) is the most common cause of both transient and permanent disorders of hypoglycemia. HI is characterized by dysregulated insulin secretion, which results in persistent mild to severe hypoglycemia. The various forms of HI represent a group of clinically, genetically, and morphologically heterogeneous disorders. Congenital hyperinsulinism is associated with mutations of SUR-1 and Kir6.2, glucokinase, glutamate dehydrogenase, short-chain 3-hydroxyacyl-CoA dehydrogenase, and ectopic expression on beta-cell plasma membrane of SLC16A1. Hyperinsulinism can be associated with perinatal stress such as birth asphyxia, maternal toxemia, prematurity, or intrauterine growth retardation, resulting in prolonged neonatal hypoglycemia. Mimickers of hyperinsulinism include neonatal panhypopituitarism, drug-induced hypoglycemia, insulinoma, antiinsulin and insulin-receptor stimulating antibodies, Beckwith-Wiedemann Syndrome, and congenital disorders of glycosylation. Laboratory testing for hyperinsulinism may include quantification of blood glucose, plasma insulin, plasma beta-hydroxybutyrate, plasma fatty acids, plasma ammonia, plasma acylcarnitine profile, and urine organic acids. Genetic testing is available through commercial laboratories for genes known to be associated with hyperinsulinism. Acute insulin response (AIR) tests are useful in phenotypic characterization. Imaging and histologic tools are also available for diagnosing and classifying hyperinsulinism. The goal of treatment in infants with hyperinsulinism is to prevent brain damage from hypoglycemia by maintaining plasma glucose levels above 700 mg/L (70 mg/dL) through pharmacologic or surgical therapy. The management of hyperinsulinism requires a multidisciplinary approach that includes pediatric endocrinologists, radiologists, surgeons, and pathologists who are trained in diagnosing, identifying, and treating hyperinsulinism.
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PMID:[Hyperinsulinism in infancy and childhood: when an insulin level is not always enough]. 1815 85

Over half a million women die each year from pregnancy related causes, 99% in low and middle income countries. In many low income countries, complications of pregnancy and childbirth are the leading cause of death amongst women of reproductive years. The Millennium Development Goals have placed maternal health at the core of the struggle against poverty and inequality, as a matter of human rights. Ten percent of women have high blood pressure during pregnancy, and preeclampsia complicates 2% to 8% of pregnancies. Preeclampsia can lead to problems in the liver, kidneys, brain and the clotting system. Risks for the baby include poor growth and prematurity. Although outcome is often good, preeclampsia can be devastating and life threatening. Overall, 10% to 15% of direct maternal deaths are associated with preeclampsia and eclampsia. Where maternal mortality is high, most of deaths are attributable to eclampsia, rather than preeclampsia. Perinatal mortality is high following preeclampsia, and even higher following eclampsia. In low and middle income countries many public hospitals have limited access to neonatal intensive care, and so the mortality and morbidity is likely to be considerably higher than in settings where such facilities are available. The only interventions shown to prevent preeclampsia are antiplatelet agents, primarily low dose aspirin, and calcium supplementation. Treatment is largely symptomatic. Antihypertensive drugs are mandatory for very high blood pressure. Plasma volume expansion, corticosteroids and antioxidant agents have been suggested for severe preeclampsia, but trials to date have not shown benefit. Optimal timing for delivery of women with severe preeclampsia before 32 to 34 weeks' gestation remains a dilemma. Magnesium sulfate can prevent and control eclamptic seizures. For preeclampsia, it more than halves the risk of eclampsia (number needed to treat 100, 95% confidence interval 50 to 100) and probably reduces the risk of maternal death. A quarter of women have side effects, primarily flushing. With clinical monitoring serious adverse effects are rare. Magnesium sulfate is the anticonvulsant of choice for treating eclampsia; more effective than diazepam, phenytoin, or lytic cocktail. Although it is a low cost effective treatment, magnesium sulfate is not available in all low and middle income countries; scaling up its use for eclampsia and severe preeclampsia will contribute to achieving the Millennium Development Goals.
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PMID:The global impact of pre-eclampsia and eclampsia. 1946 2

A 36-year-old primigravida with a history of temporal lobe epilepsy presented at 25 weeks of pregnancy with generalized tonic clonic seizures. The clinical picture was confused with eclampsia because of rising blood pressure and proteinuria. Clinical investigations, which included a lumbar puncture, were carried out to rule out an infective cause for the seizures. A computed tomography of the brain was performed for evidence of intracranial hemorrhage. The patient was intubated and ventilated in the intensive care unit. The labile blood pressure settled in 2 days, and the transient heavy proteinuria also resolved after 3 days. Eclampsia would have warranted operative delivery of the preterm fetus with the attendant problems of prematurity. Delivery would have been hazardous in such an acutely unwell patient. The management also would have required magnesium sulfate with its potential for toxicity. Transient proteinuria may occur in status epilepticus. The blood pressure can be labile during epileptic seizures and, in the absence of an intracranial hemorrhage, generally settles without treatment after control of the seizures. This case highlights the importance of differentiating eclampsia in a patient with known epilepsy that may also mask other disease entities such as intracranial hemorrhage, meningitis, or encephalopathy. We have also discussed the importance of various signs associated with eclampsia and their clinical significance. The differential diagnosis of seizures in pregnancy are broad as symptoms of the various disease entities including eclampsia, intracranial hemorrhage, status epilepticus, meningitis, stroke overlap creating a dilemma in an acute emergency. We present a case whereby the clinical picture of status epilepticus was confused with eclampsia because of the presence of a rising blood pressure and proteinuria.
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PMID:Proteinuria in status epilepticus or eclampsia; a diagnostic dilemma. 1949 73

The purpose of the study was to identify predictive risk factors for epilepsy among children with cerebral palsy. We conducted a retrospective study of the clinical characteristics of children with cerebral palsy and epilepsy in comparison to those of children with cerebral palsy without epilepsy. The examined parameters included: the prevalence and the age of onset of the seizures, the clinical subgroup of cerebral palsy and subtype of epileptic seizures. We looked for possible risk factors including the presence of neonatal seizures, the imaging findings, the gestational age at delivery, the adjusted birth weight, the mode of delivery, the Apgar scores, and the head size as well as the presence of consanguinity. Epilepsy occurred in 33% of the studied children. Almost 50% of the epileptic children had their first seizure within the first 12 months of life. Neonatal seizures were strong predictors for epilepsy (p<0.001). Presence of at least one abnormal structural finding (particularly brain atrophy) was also a significant predictor of epilepsy (p<0.003). Low Apgar score at 5 min after birth and birth at term were also found more frequently among patients with epilepsy, although when adjusted with other risk factors, Apgar score did not reach statistical significance. The mode of delivery, head circumference, adjusted birth weight, gender and ethnic group, consanguineous marriage and prematurity were not found to be risk factors for the occurrence of epilepsy in these children.
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PMID:Risk factors for epilepsy in children with cerebral palsy. 1957 27

We undertook a community-based case-control study on persons with active epilepsy residing in Kerala, southern India. Using a standardized questionnaire, we collected information from 362 cases and 362 controls. In the final multivariate model, family history of epilepsy (odds ratio=7.8, 95% confidence interval=3.2-18.8, P=0.000), antecedent history of febrile seizures (7.7, 4.3-14.0, 0.000), birth by complicated delivery (6.8, 2.1-21.8, 0.001), and neonatal seizures (7.8, 1.7-35.4, 008) emerged as strong independent predictors of epilepsy, followed in decreasing order by mental retardation, prematurity, maternal age 30, perinatal distress, and incomplete immunization. There were more similarities than differences in the distribution of risk factors between generalized and localization-related epilepsy syndromes. Our findings suggest interplay between genetic and acquired factors in the pathogenesis of epilepsies, and underscore the need for improvement in obstetric and neonatal care to minimize the epilepsy burden in low-income countries.
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PMID:Risk factors for epilepsy: a population-based case-control study in Kerala, southern India. 1966 Sep 89

Intraventricular hemorrhage and posthemorrhagic hydrocephalus are the most important neurological complications in preterm infants during the neonatal period. The incidence of germinal matrix-intraventricular hemorrhage widely ranges from 5% to 90%, depending on the population of study. Although the incidence of intraventricular hemorrhage increases as the gestational age decreases, higher-grade hemorrhages occur more frequently in low-birth weight neonates. Infants with intraventricular hemorrhage or posthemorrhagic hydrocephalus often have poor neurodevelopmental outcomes such as seizure disorders, IQ problems, and severe motor handicaps. Several factors have been implicated in germinal matrix hemorrhage pathogenesis, including intravascular, vascular, and extravascular factors. Any situation leading to an alteration in the cerebral blood flow and/or central nervous system blood pressure may develop into a germinal matrix and intraventricular hemorrhage in the preterm infant. Diagnosis is often difficult to determine based on clinical criteria alone, but availability and information of cranial ultrasound studies are key to definite diagnosis. Modalities of treatment include drugs that decrease cerebrospinal fluid (CSF) production and surgical interventions to transiently or permanently shunt CSF fluid. Permanent CSF shunts are nowadays the only proven treatment in cases of progressive posthemorrhagic hydrocephalus, although they are subjected to frequent complications. Prevention of prematurity itself is the key to decrease the number of shunt-dependent patients.
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PMID:Intraventricular hemorrhage and posthemorrhagic hydrocephalus in the preterm infant. 2021 1

Twin-to-twin transfusion syndrome and conital cytomegalovirus infection bear the risk of brain damage. In the 27th week of gestation of a twin pregnancy a Caesarean section was performed because of pathological cardiotocogram and Doppler ultrasonography of the second twin (recipient). Both infants presented with severe, persistent thrombocytopenia, elevated liver enzymes and direct hyperbilirubinemia. Primary congenital CMV infection was diagnosed. Both twins showed severe neuropathological symptoms, pathological aEEG with seizure activity and severe neurodevelopmental delay at corrected age of 12 months. The severity of brain pathology, the complex etiology, its consequence for neurotion with extreme prematurity make this case of special interest.
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PMID:Neurodevelopmental outcome following congenital cytomegalovirus infection in preterm infants with twin-to-twin transfusion syndrome: a case report. 2080 66

The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a significantly younger age than toddlers in the Down Syndrome and Cerebral Palsy groups. Additionally, toddlers in the Seizure Disorder group began walking at a younger age than children in the Down Syndrome, Cerebral Palsy, and Global Developmental Delay groups, while toddlers in the Prematurity group began walking at a younger age than children in the Down Syndrome group. No between group differences were found with respect to age at which first words were spoken. Results and their implications are discussed.
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PMID:Developmental milestones in toddlers with atypical development. 2185 92


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