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Background. Hypertensive disorders of pregnancy (HDP) are a major cause of maternal mortality and adverse outcomes. A previous study in the intensive care unit (ICU) at King Edward VIII Hospital, Durban, South Africa, in 2000 found 10.5% mortality among eclampsia patients. Objectives. To describe the mortality and adverse neurological outcomes associated with HDP in a tertiary ICU, compare these with results from 2000 and describe factors associated therewith. Methods. The data of 85 patients admitted with HDP to ICU at King Edward VIII Hospital from 2010 to 2013 were retrospectively reviewed. Mortality and adverse neurological outcome (Glasgow Coma Scale (GCS) ≤14 on discharge from ICU) were assessed. Two sets of analyses were conducted. The first compared those alive on discharge from ICU with those who died in ICU. The second compared good neurological outcome with poor outcome (adverse neurological outcome, or death). Results. The mortality was 11.6%, and overall, 9% had adverse neurological outcomes. There was no significant difference in mortality between patients with eclampsia in 2010 - 2013 (11.0%) and those in 2000 (10.5%) ( p =0.9). Factors associated with mortality were: intra- or postpartum onset of seizures; twins; failure to perform operative delivery when indicated; lowest GCS score

BackgroundThere are only 15 reported hepatic epidermoid cysts; they include patients presenting congenitally through adulthood, with varied speculations about pathogenesis. Aside from recently reported pancytokeratin staining, no other descriptions have included immunohistochemistry. Splenic epidermoid cysts were recently characterized as positive for HBME-1, p63, CEA, CK7 (luminal), and CK19. We interrogate 2 hepatic epidermoid cysts with a broad panel of immunohistochemistry, with the aim of elucidating histogenesis.MethodsArchives were searched for “liver,” “hepatic,” and “cyst.” Hepatic cysts lined by squamous epithelium were included. Clinical records, macroscopic findings, and hematoxylin and eosin and immunohistochemically stained slides were reviewed.ResultsWe identified 2 patients with epidermoid cysts of the liver, first detected on antenatal ultrasound. Both were females and asymptomatic; neither had other congenital abnormalities. Cysts enlarged slowly after birth. Resection was at ages 2 and 6 months, done to avoid potentially more difficult surgery in the future. Cysts were unilocular (4.8 cm) and multilocular (7.0 cm). Both were lined by stratified nonkeratinizing squamous to focally transitional-like epithelium and surrounded by paucicellular fibrous stroma. In the multilocular cyst, hepatocytes and fibrous stroma populated septa. Epithelium was positive for HBME-1, p63, CK19, CEA, Cam5.2, and CK7, negative for EMA, D2-40, WT-1, calretinin, and Ca19-9. Cytogenetic analysis of one showed a normal female karyotype. During the study period, 22 other pediatric liver cysts were diagnosed.ConclusionHepatic epidermoid cyst is a distinct entity, rare but nevertheless constituting 8% of pediatric hepatic cysts at our institution. It is characterized by intrauterine onset and growth roughly commensurate with that of the fetus/infant; it is apparently unsyndromic. It may be unilocular or multilocular. It stains for an array of epithelial markers as well as HBME-1. Strong immunohistochemical overlap with splenic epidermoid cyst points to a shared pathogenesis and detracts from hypotheses that hepatic epidermoid cysts derive from hepatic elements.

A female infant was born at 35-week gestation by emergency C-section because of abnormal cardiotocography. No birthmarks were evident. Cord pH was 6.87; therefore, an amplitude-integrated electroencephalography monitoring was performed soon after birth, showing left-sided electrical seizures. Cranial ultrasound revealed left hemisphere atrophy, with subcortical hyperechoic areas in the frontoparietal lobe. Frontoparietal NIRS monitoring showed interhemispheric asymmetry of cerebral oxygenation and total hemoglobin concentration (figure 1) that serves as a proxy for cerebral blood volume.1 Brain CT and MRI (figure 2) revealed characteristic features consistent with Sturge-Weber syndrome. Based on the evidence of polymicrogyria, the insult was dated back to the second trimester of pregnancy.2 The ophthalmologic examination results were unremarkable. The infant was started on phenobarbital,3 with seizure remission.

Renal vein thrombosis in a neonate is a rare but well recognized condition with low mortality but high morbidity. The cause has not been explained clearly yet but is probably a multifactorial process that includes inherited prothrombotic abnormalities. Antenatal onset of renal vein thrombosis is important due to the increased risk for permanent organ damage. We report a case of prenatal thrombosis of the renal veins and the inferior vena cava in a newborn with double heterozygosity for factor V Leiden and prothrombin gene mutations who had persistently impaired renal function requiring chronic peritoneal dialysis.

Introduction: Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later onset form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte imbalance that can compromise the survival of the patient. Objective: To report a clinical case of neonatal BS and a review of the literature. Clinical Case: Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. The patient was treated with strict water balance and sodium and potassium supplementation, achieving weight and electrolyte imbalance stabilization. The patient remains in control in the nephrology unit, with potassium gluconate and sodium chloride supplementation. At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed requiring a cochlear implant. Conclusion: The presence of severe polyhydramnios of early onset with no identified cause should lead to suspicion of neonatal BS which even when infrequent determines severe hydroelectrolytic alterations and should be treated early.

Aim We conducted a retrospective analysis of summary medical reports of children diagnosed with cerebral palsy (CP) to identify clinical features of antenatal onset of CP secondary to transient ischemia in utero. Methods The 658 brief summary reports available in the Japan Obstetric Compensation System for Cerebral Palsy were screened, and we identified cases of singleton pregnancy, delivered at gestational age ≥ 33 weeks and those with cord blood gas pH ≥ 7.20. Of the 137 cases identified, 84 were excluded for the following reasons: no evidence of ischemic brain lesion, clear post-natal causative factor of CP, presence of a congenital condition, and sentinel hypoxic event, such as uterine rupture. The demographic profiles of the 53 cases included in our analysis were compared to identify those with and without an abnormal variability in fetal heart rate. Results Between-group comparison identified an association between abnormal heart rate variability and a lower Apgar score at 1 min (2 vs 6; P 1 week were associated with development of polyhydramnios (44%). Conclusion In utero transient ischemic events can contribute to term or near-term CP. Careful follow-up is recommended for fetuses with a history of fetal movement loss, abnormal variability in heart rate, and polyhydramnios of unknown causes.

SCN8A encephalopathy is a newly defined epileptic encephalopathy caused by de novo mutations of the SCN8A gene. We report herein a four-year-old boy presenting with severe non-epileptic abnormal movements, of possibly antenatal onset, progressively associated with pharmacoresistant epilepsy and regression, associated with a de novo heterozygous missense mutation of SCN8A. This case shows that paroxysmal non-epileptic episodes of severe tremor and hyperekplexia-like startles and a striking vegetative component can be the first early symptoms of severe SCN8A developmental and epileptic encephalopathy. Clinicians should be aware of these symptoms in order to avoid misdiagnosis and ensure early appropriate therapeutic management. [Published with video sequences on www.epilepticdisorders.com].

Vanishing white matter disease, which is one of the most prevalent inherited childhood leukoencephalopathies, has an extremely wide phenotypic variation. The classical phenotype is characterized by early childhood onset of chronic neurological deterioration, dominated by cerebellar ataxia. However cases with antenatal onset, severe clinical course in the neonatal period and early demise have been also defined in the literature. Almost all diagnosed newborns present with rapid neurological deterioration and unexplained coma soon after birth. Other symptoms include feeding intolerance, hypotonia, seizures, apnea and severe respiratory distress. The exact pathogenesis is not known. Cerebral magnetic resonance imaging and spectroscopy are diagnostic. Differential diagnosis is difficult in the neonatal period and the disease may be misdiagnosed as hypoxic ischemic encephalopathy, congenital infections and inborn errors of metabolism. Here we present two premature infants with unexplained comatose state and severe neurological symptoms whose cerebral imaging studies were indicative of rarefaction and cystic degeneration of the cerebral white matter, and particularly emphasize on the differential diagnosis and the importance of cerebral imaging studies in the newborn period.

Aim Periventricular haemorrhagic infarction (PVHI) is a complication of preterm birth associated with cardiorespiratory instability. To date, the role of thrombophilia as a possible additional risk factor in infants with atypical timing and presentation of PVHI has not been investigated. Method This was a retrospective cohort study of preterm infants who developed PVHI with an atypical timing and presentation either of antenatal onset or late in the postnatal course in the absence of a preceding sudden deterioration of their clinical condition. In infants with atypical PVHI mutation analysis of the factor V Leiden (G1691A), prothrombin (G20210A) gene, and C677T and A1298C polymorphisms in the MTHFR gene was performed, and plasma lipoprotein(a) and homocysteine levels were measured. Results Sixty-two preterm infants who presented with a PVHI were studied. Seventeen had an atypical presentation (seven males, 10 females; median birthweight 1170g [range 580–1990g]; median gestational age 30.6wks [range 28.7–33.7wks]). The typical PVHI group comprised 28 males and 17 females (median birthweight 1200g [range 670–2210g]; median gestational age 29.6wks [range 25.3–33.6wks]). Among the 17 infants with atypical presentation, the factor V Leiden mutation was found in seven infants (41%) as well as in the mothers of six of these seven infants; in one infant this was concomitant with a prothrombin gene mutation. A polymorphism in the MTHFR gene was also present in these infants. In two infants with an atypical presentation who were tested for this, a mutation in the COL4A1 gene was found (reported previously). All but two of the infants with an atypical presentation developed spastic unilateral cerebral palsy. Interpretation An atypical presentation of PVHI in preterm infants tends to occur more often in the presence of thrombophilia. Testing of thrombophilia, especially factor V Leiden and prothrombin gene mutation, is recommended in these infants.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2 mutations. Onset is most often in infancy, but in severe cases in the neonatal period. Patients typically have magnetic resonance imaging (MRI) signal abnormalities involving the thalamus, brainstem, and deep cerebral white matter. Most signal abnormalities resolve, but in severe cases at the expense of tissue loss. Here, we report a patient with an encephalopathy of antenatal onset. His early MRI at 8 months of age showed signal abnormalities in the deep cerebral white matter that improved over time. The thalami were absent with the configuration of a developmental anomaly, without evidence of a lesion. We hypothesized that this was a case of LTBL in which the thalamic damage occurred antenatally and was incorporated in the normal brain development. The diagnosis was confirmed by a novel homozygous EARS2 mutation. Our case adds to the phenotypic and genetic spectrum of LTBL.

We report on a fetus of 27 weeks of gestation whose clinical, radiological, and histopathological findings are compatible with the prenatal form of Caffey disease (cortical hyperostosis). Prenatal ultrasound examination showed polyhydramnios and markedly short and angulated long bones, which had led to the incorrect diagnosis of lethal osteogenesis imperfecta. We found 43 published descriptions on the antenatal onset of cortical hyperostosis symptomatic in utero or at birth. Two groups of prenatal cortical hyperostosis (PCH) can be distinguished: (1) severe (25 reports and the fetus presented here), with onset before 35 weeks of gestation and generally associated with polyhydramnios, lung disease, prematurity, and high lethality; (2) mild (18 reports), with onset after 35 weeks of gestation and without complications. Autosomal recessive inheritance has been suggested for the prenatal form of cortical hyperostosis. However, the available evidence suggests that both dominant and recessive inheritance is possible. Moreover, dominant inheritance seems to be more common in the mild prenatal form of cortical hyperostosis.

Aim—To assess the prevalence of an antenatal onset of haemorrhagic and/or ischaemic lesions in preterm infants; to identify possibly related obstetric risk factors. Methods—A prospective cohort study was made of 1332 infants born at less than 34 completed weeks, using cranial ultrasound, for the presence of antenatal brain lesions (group A) involving the periventricular white matter (PVWM) or central grey matter. Entry criteria were presence of (i) cysts in the PVWM < 7 days; (ii) increased PVWM echogenicity < 6 hours, confirmed to be white matter necrosis at post mortem examination; (iii) a unilateral porencephalic cys t

Objective To report the presence of intracerebral hemorrhage and porencephaly, both present at birth, in two preterm infants with a mutation in the collagen 4 A1 gene. Methods Two preterm infants with antenatal intracerebral hemorrhage and established porencephaly, as well as their affected mother and grandfather, underwent neurological and ophthalmological examination and magnetic resonance imaging of the brain. Mutation analysis of the COL4A1 gene was performed in the infants and in their mother. Results Both infants had a novel G1580R mutation in the COL4A1 gene, encoding procollagen type IV α1. A history of mild antenatal trauma was present in the first but not in the second infant. Both preterm infants were asymptomatic at birth. The intracerebral hemorrhage and porencephaly were diagnosed with cranial ultrasound examination and were subsequently confirmed with magnetic resonance imaging. Leukoencephalopathy was present in the mother and in her father. Interpretation Mutation of the COL4A1 gene appears to be a risk factor of antenatal intracerebral hemorrhage followed by porencephaly in the preterm newborn. Ann Neurol 2009;65:12–18

Objective: The aim of this study was to evaluate the presence and the severity of neurological and cognitive impairment at 2 years of age in 16 infants (9 term born, 7 preterm of mean gestation 33.6 weeks) with cerebral ventriculomegaly of antenatal onset associated with intraventricular haemorrhage. Methods: Ventricular dilatation, with or without associated lesions, was, with one exception, not identified on the antenatal routine scan at approximately 22 weeks but was obvious on the scans performed between weeks 27 and 33. In 8 of the 16 cases there were signs of parenchymal involvement or of abnormalities of the corpus callosum or cerebellum. In all patients the diagnosis of antenatal IVH was confirmed by early neonatal imaging. Outcome was measured using the Hammersmith infant neurological examination and the Griffiths developmental scales at 2 years. Results and Conclusions: At 2 years, 8 infants had normal motor outcome and 8 had cerebral palsy. The presence and severity of cerebral palsy or neurodevelopmental delay was not always related to the magnitude or symmetry of the ventricular dilatation per se. The presence of associated lesions was a negative prognostic marker. The early development of epilepsy was also associated with an abnormal outcome.

Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood leucoencephalopathies. The classical phenotype is characterised by early childhood onset of chronic neurological deterioration, dominated by cerebellar ataxia. VWM is unusual because of its clinically evident sensitivity to febrile infections, minor head trauma, and acute fright, which may cause rapid neurological deterioration and unexplained coma. Most patients die a few years after onset. The phenotypic variation is extremely wide, including antenatal onset and early demise and adult-onset, slowly progressive disease. MRI findings are diagnostic in almost all patients and are indicative of vanishing of the cerebral white matter. The basic defect of this striking disease resides in either one of the five subunits of eukaryotic translation initiation factor eIF2B. eIF2B is essential in all cells of the body for protein synthesis and its regulation under different stress conditions. Although the defect is in housekeeping genes, oligodendrocytes and astrocytes are predominantly affected, whereas other cell types are surprisingly spared. Recently, undue activation of the unfolded-protein response has emerged as important in the pathophysiology of VWM, but the selective vulnerability of glia for defects in eIF2B is poorly understood.

Objective: Neonatal arrhythmias are not uncommon; however, they rarely cause hemodynamic compromise. This paper aims to study the etiology, spectrum and outcome of neonates with arrhythmias who presented to a pediatric department.Methods: All neonates, either inborn or brought to the pediatric emergency with rhythm disorders, between August 1999 to August 2002, were included prospectively. Evaluation including a search for secondary causes of rhythm disorder and a chest X-ray, standard 12-lead electrocardiography and echocardiography in all. The management required in each and the outcomes were noted.Results: Nine neonates were identified, of which 4 were inborn. Tachycardia was seen in 8 neonates, and bradycardia in only one. Three neonates had an antenatal onset of arrhythmias; in the rest it was postnatal in onset. Five neonates had a secondary rhythm disorder, secondary to metabolic derangements in 4 and a cardiac mass in 1. Five had ventricular arrhythmias, and 5 had hemodynamic compromise due to the arrhythmia. The outcome was poor in 4 and was related to the underlying illness.Conclusion: Tachyarrhythmia is more common than bradyarrhythmia in the neonate. Arrhythmias secondary to various metabolic causes are more common than primary rhythm disorders.

Item does not contain fulltext Leukoencephalopathy with vanishing white matter, also called "childhood ataxia with central nervous system hypomyelination," is the first human disease related to mutations in any of the five genes encoding subunits of eukaryotic initiation factor eIF2B or any translation factor at all. eIF2B is essential in all cells of the body for protein synthesis and the regulation of this protein synthesis under different stress conditions. It is surprising that mutations in the eIF2B genes have been reported to lead to abnormalities of the white matter of the brain only, although it has been shown recently that ovarian failure may accompany the leukoencephalopathy. Another surprising observation is that the onset of the disease varies from early childhood to adulthood, with the exception of Cree leukoencephalopathy, a disease related to a particular mutation in one of the eIF2B genes, which invariably has its onset within the first year of life. We analyzed the eIF2B genes of nine patients with an antenatal- or early-infantile-onset encephalopathy and an early demise and found mutations in eight of the patients. In addition to signs of a serious encephalopathy, we found oligohydramnios, intrauterine growth retardation, cataracts, pancreatitis, hepatosplenomegaly, hypoplasia of the kidneys, and ovarian dysgenesis. Until now, no evidence had been found for a genotype-phenotype correlation, but the consistently severe phenotype in affected siblings among our patients and in Cree encephalopathy patients suggests an influence of the genotype on the phenotype.

Footdrop is rare in the newborn period. In this report, the clinical and electrophysiological features of a newborn whose peroneal neuropathy was detected in the delivery room is presented. Her first electrophysiological examination, at the 13th hour of life, revealed a peroneal nerve lesion. All findings elicited in this and subsequent examinations suggested an antenatal onset. Clinical recovery began within weeks of the birth and she was able to walk, with no residual neurological abnormality, by her first birthday. Early electrophysiological examination of a newborn with peripheral neuropathy may provide valuable information about the time of onset and pathophysiological features of the nerve lesion. In spite of the early electromyogram findings revealing severe nerve injury, a good prognosis is possible in newborns with peroneal neuropathy.

Maternal peritonitis secondary to fetal vernix caseosa is considered an infrequent complication of cesarean section in which commonly spilled amniotic fluid is incompletely lavaged. Nine of the 10 reported cases have been diagnosed in the postpartum period after an uneventful cesarean section. Characteristically, vernix elicits granulomatous inflammation, occasionally with a mass lesion simulating bowel perforation and leading to colectomy. One case of antenatal leakage of amniotic fluid has been reported, also with granulomatous inflammation. We report two additional cases of antenatal leakage, both with acute inflammation lacking granulomatous features or mass lesions. The interval between amniotic fluid contamination and histopathologic evaluation is the basis for variations in the inflammatory pattern.

Introduction: Periventricular haemorrhagic infarction (PVHI) is a complication of preterm birth associated with cardiorespiratory instability. The role of thrombophilia as a possible additional risk factor in infants with an atypical presentation when PVHI was of presumed antenatal onset or > 96 h after birth in the absence of a preceding sudden deterioration, has not been investigated extensively.

The intrauterine onset of convulsive syndromes has been documented only rarely, and previous reports have lacked detailed neuropathologic description. This report details a case of severe, intractable myoclonic encephalopathy, which, on the basis of severely abnormal paroxysmal fetal movement patterns confirmed by antenatal ultrasound, appears to have been of antenatal onset. The infant suffered an early demise and at autopsy showed features of a severe brain dysgenesis with polymicrogyria and superadded encephaloclastic features. Despite an extensive evaluation, the etiology of this condition remains elusive in our case. This case demonstrates that closer analysis of the qualitative features of fetal movements by, for instance, real-time ultrasound could aid in the antenatal diagnosis of neurologic, particularly convulsive, syndromes. ( J Child Neurol 1993;8:164-170).

Neonatal hemochromatosis (NH), an uncommon and generally fatal disorder of infancy, is defined by hepatic disease of antenatal onset, generally manifest at birth, and by stainable iron in a tissue distribution like that seen in heritable adult-onset hemochromatosis (HH). It is not known if parents and sibs of infants with NH are at risk of iron storage disease in later life. We provide 30-year follow-up for iron overload of a family in which 6 of 9 children died in utero or early in the neonatal period. Four of the 6 came to autopsy, where severe liver disease was found; in 3 of the 4, autopsy material could be reviewed. These 3 children had NH. Studies 30 years later did not identify HH or other iron storage disease in the parents or surviving sibs. These findings suggest that first-degree relatives of persons with NH are not necessarily at increased risk of iron storage disease in later life.

Aim: To establish prevalence of antenatally acquired haemorrhagic-ischaemic (HI) lesions among preterm infants < 34 wks GA and to compare their antenatal and obstetrical risk factors with those of infants with similar lesions of postnatal onset.

The data reported here may prove to be of importance in throwing additional light on the problem of Schilder's disease and related demyelinating or degenerative encephalopathies. It may also help to explain some of the clinical syndromes often attributed to birth trauma. "Swayback" in lambs has been shown by Innes and Shearer 1 to be of antenatal development, and even in those cases in which the condition was manifested at a considerable time after birth the defect probably began in utero. Innes and Shearer stated that "rarely only one of twin lambs was observed to be affected at birth, but in such cases the other often showed symptoms later in life. When only one of twin lambs is visibly affected at birth we do not know whether the other lamb remains permanently free from symptoms." There are many clinical and pathologic similarities between "swayback" and Schilder's disease, the latter being