Multicystic Encephalomalacia Research Articles

Microspherophakia in a Case of Isolated Sulphite Oxidase Deficiency

Abstract Isolated sulphite oxidase deficiency is an autosomal recessive hereditary disorder. A 5-month-old male child with neonatal seizures and global developmental delay was referred by a paediatrician for ophthalmological evaluation. On examination, the child was found to have microspherophakia and horizontal nystagmus. Owing to the previous history of lens dislocation and bilateral optic atrophy in the elder sibling, a suspicion of isolated sulphite oxidase deficiency was considered. A biochemical assessment revealed elevated urine sulphite levels with low total homocysteine and serum urate with normal urine xanthine and hypoxanthine levels. Neuroimaging revealed multicystic encephalomalacia. Clinical exome sequencing showed variants in CUX2 and CHD2 genes related to genetic and developmental encephalopathies; however, variations in the SUOX gene were not revealed in this analysis. This case is portrayed on account of uncommon presentation and for depicting the importance of ophthalmic examination as a lead in further evaluation.

Клинический случай врожденной патологии центральной нервной системы: мультикистозная трансформация полушарий головного мозга (энцефаломаляция), внутренняя гидроцефалия

A case of multicystic encephalomalacia in a deceased child aged 1 month 17 days is presented. The dynamics describes changes in the general condition of the child, morphofunctional changes in the brain. The tactics of treatment and resuscitation measures in dynamics are given. A rare case of the formation of huge cysts of both hemispheres of the brain in a child born with an intrauterine cytomegalovirus infection is presented. In this observation, the relationship between a congenital infection and hypoxic dysfunction and morphology of the cerebral hemispheres is considered.

Multicystic encephalomalacia following intrauterine single fetal death in second-trimester and subsequent fetofetal transfusion syndrome in monochorionic twin pregnancy: A case report

Multicystic encephalomalacia is a condition of cerebral necrosis followed by the formation of cystic lesions of varying sized starting from the periventricular area and may extending to the cerebral cortex. This disorder may happens in surviving cotwins after the second and third-trimester intrauterine fetal death of one twin in monochorionic pregnancies.

A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report

Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging between 1 in 100,000 and 200,000 live births. The clinical presentation with seizures, lethargy and neurologic deficits reflects the neurotoxicity mediated via sulphite accumulation, and it occurs within the first hours or days after birth, often leading to severe neurodegeneration and the patient’s death within days or months. The Imaging of Choice is a brain-specific MRI technique, which is usually performed without contrast and shows typical radiological findings in the early phase, such as diffuse cerebral oedema and infarction affecting the cortex and the basal ganglia and the white matter, as well as in the late phase, such as multicystic encephalomalacia. Our case report represents a novelty in the field, since the patient underwent a contrast-enhanced MRI to exclude a concomitant infectious disease. In the frame of the clinical presentation and laboratory data, we describe the MoCD Imaging findings for MRI morphological and advanced sequences, presenting a new contrast-enhanced MRI pattern characterized by the diffuse and linear leptomeningeal enhancement of brain, cord and spinal roots. The early identification of molybdenum cofactor deficiency is crucial because it may lead to the best multidisciplinary therapy for the patient, which is focused on the prompt and optimal management of the complications.

Диагностические критерии формирования морфологических изменений головного мозга у детей с перинатальным гипоксическим поражением нервной системы

Objective. To determine the diagnostic criteria of morphological changes in children with perinatal hypoxic brain injury. Patients and Methods. The study included 58 full-term newborns with severe hypoxic brain damages who, according to MRI of brain performed on 2–10 days of life, had low rates of diffusion processes of the white matter of the cerebral hemispheres – diffusion coefficient (Ds) of less than 1.35 × 10–3 mm2/s. Children received treatment in the intensive care unit of the regional perinatal center of Krasnodar Children's Clinical Hospital. Follow-up MRI was performed at the 4th week of life. Observation of children was carried out up to 2 years of age. Results. Denominated destructive changes in the nervous tissue with multicystic encephalomalacia were identified in 23 (40%) newborns (group 1). The range of values of Ds of the white matter of cerebral hemispheres in children of the 1st group was 0.60–1.11 × 10–3 m2/s. In the remaining 35 (60%) children (group 2), hypoxic brain damage was manifested by the expansion of the subarachnoid space, the interhemispheric fissure, and the lateral ventricles. These changes were reflected in a decrease in the volume of brain parenchyma with the persistent neurological deficiency in the future (disorders of psycho-speech development, cerebral palsy, structural epilepsy). The range of values of the Ds of the white matter of the cerebral hemispheres in children of the second group was 1.14–1.35 × 10–3 mm2/s. Conclusions. Using the modern high-tech methods of neuroimaging makes it possible to determine the diagnostic criteria for damaging effects of hypoxia in children with perinatal brain injury and in early stage to identify morphological changes in brain tissue. Key words: hypoxia, brain, children, magnetic resonance imaging, neurological outcome

Cystic Neuronal Necrosis of Posterior Thalami in Neonatal Hypoxic Ischemic Encephalopathy: A Case Report of an Unusual Radiological Finding

Background: Neonatal hypoxic ischemic encephalopathy (HIE) occurs as a result of any event that causes hypoxia and hypoperfusion to the developing neonatal brain. In addition to being a major cause of neonatal mortality, it is also associated with significant long-term neurological deficits. Multicystic encephalomalacia is a sequelae to global hypoxic ischemic injury which is characterized by cortical atrophy, basal ganglia/thalamic atrophy, and cystic necrosis of cerebral white matter. In this report, we present an unusual finding of cystic necrosis of thalami in HIE. Case Presentation: We present the case of a term neonate with a history of prolonged labor and meconium aspiration who developed HIE stage III. The neonate initially required ventilator support and was gradually weaned off but was reintubated in view of neonatal sepsis. Magnetic resonance imaging done on day 23 revealed diffuse cortical and white matter atrophy, signal intensity alteration in basal ganglia and thalami, and multiple well-defined areas of cerebrospinal fluid signal intensity in the white matter, consistent with multicystic encephalomalacia. An additional unusual finding was cystic necrosis, symmetrically involving bilateral posterior thalami. Conclusion: According to our observation, severe prolonged hypoxic ischemic insult does not only result in central gray matter atrophy but can also cause cystic neuronal necrosis of the same.

A Case Report On MR Imaging of Multicystic Encephalomalacia of Infancy

A Case Report On MR Imaging of Multicystic Encephalomalacia of Infancy

Severe isolated sulfide oxidase deficiency with a novel mutation

Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics hypoxic-ischemic encephalopathy (HIE) in the neonatal period and is characterized by progressive severe neurological impairment due to accumulation of toxic metabolites. This report presents a late diagnosed male patient with ISOD manifesting with neonatal-onset seizures, developmental delay, microcephaly, and spastic quadriplegia. Brain magnetic resonance imaging of the patient showed bilateral subcortical multi-cystic encephalomalacia involving bilateral parieto-occipital regions. A novel homozygous c.590_595delAGCCTC in-frame deletion in SUOX gene was identified in the patient, while both parents were heterozygous for that mutation. The mutation identified in our patient causes severe ISOD. Early diagnosis of ISOD is essential for accurate genetic counseling and achieving prenatal diagnosis. Screening for urinary sulfite in patients with neonatal or early infantile onset seizures, developmental delay, microcephaly and cystic encephalomalacia in neuroimaging mimicking HIE helps in early diagnosis.

A transcranial magnetic stimulation study for the investigation of corticospinal motor pathways in children with cerebral palsy

The aim of this study is to perform transcranial magnetic stimulation (TMS)-based investigation of corticospinal motor pathways in children with cerebral palsy (CP) secondary to hypoxic-ischemic encephalopathy (HIE). TMS parameters including motor evoked potentials (MEPs) and central motor conduction time (CMCT) were recorded in 38 children with CP and 46 age-matched healthy controls. The z-score of MEPs were analyzed with respect to the types of MRI patterns of cortical involvement in children with CP. MEP latency values were correlated with the weight and height of children and to reflect the maturation of the corticospinal pathway. TMS evoked MEPs with prolonged onset latencies in 64% of children with CP while 10% of the CP group failed to elicit MEPs. Related with the MRI pattern, multicystic encephalomalacia (89%) was associated with the highest rates of abnormal cortical MEPs, as followed by periventricular leukomalacia (80%), basal ganglia involvement (66%) and focal cortical involvement (60%) patterns. Children with CP as compared with healthy controls had similar CMCT values on the upper and lower extremities in children with all cortical MR patterns. MEP abnormalities with TMS were consistent with the extent of motor cortex lesions on MRI patterns in CP children with HIE.

Multicystic Encephalomalacia:Report of One Case

The magnetic resonance imaging findings of multicystic encephalomalacia are featured by bilateral frontal large cystic lesion with corpus callosum involvement,evident heterogeneous enhancement of the lesion margin,ring hyperintensity on diffusion weighted imaging,and high choline peak and low N-acetylaspartate peak of the enhanced lesion margin on magnetic resonance spectroscopy.This article reports a case of multicystic encephalomalacia.

Magnetic resonance imaging features of four neonates with total brain injury.

The most severe form of profound asphyxia in neonates is now known as "total brain injury," which forms part of the clinical spectrum of hypoxic-ischemic encephalopathy (HIE). Although the magnetic resonance (MR) imaging features of total brain injury remain to be determined, a widespread hyperintensity of the supratentorial brain, known as the "white cerebrum sign," has been reported in diffusion-weighted images (DWI). We examined four neonates who developed severe profound asphyxia. In the first week of life, all neonates showed the white cerebrum sign on DWI. A follow-up of these cases over a period of 1month revealed diffuse bilateral multicystic encephalomalacia (MCE) as well as shrinkage of the basal ganglia and thalami (BG/T). These MR findings were common to all neonates, and all the neonates had severe adverse clinical outcomes. Neonates, who exhibit the white cerebrum sign on MR imaging due to profound asphyxia, develop major disabilities, and MCE with shrinkage of the BG/T suggests miserable outcomes.

Multicystic encephalomalacia and gastrointestinal injury following single fetal death in first trimester and subsequent fetofetal transfusion syndrome in a monochorionic triplet pregnancy: a case report

BackgroundMonochorionic multifetal pregnancies are at increased risk of adverse perinatal outcome because of placental vascular anastomoses. We present a case of multicystic encephalomalacia and gastrointestinal injury in two surviving fetuses following single fetal death in first trimester and subsequent fetofetal transfusion syndrome in a monochorionic triplet pregnancy.Case presentationA 31-year-old nulliparous woman had a spontaneous monochorionic triamniotic triplet pregnancy. Three live fetuses with single placenta were seen at 8-week ultrasound scan. One fetus demised at 11 weeks and 3 days of gestation. Dilated echogenic bowel and ascites were found in one surviving fetus at 23 weeks of gestation. At 28 weeks of gestation, the pregnancy was complicated by fetofetal transfusion syndrome in which discordant amniotic fluid volumes were found. Two days later, emergency Caesarean section was performed because of worsening of fetal Doppler and biophysical profile. One baby was found to have jejunal atresia requiring surgery at 4 days old. He had periventricular leukomalacia and intracranial haemorrhage, but subsequent normal neurological development. Another baby had gastric perforation requiring surgery at 2 days old. He was confirmed to have multicystic encephalomalacia by cranial ultrasound and magnetic resonance imaging. He suffered from developmental delay, epilepsy and cerebral palsy.ConclusionThis case alerts the obstetricians the possible hypoxic-ischemic injury to the survivors of monochorionic triplet pregnancy after the co-triplet death in the first trimester and fetofetal transfusion syndrome. Antenatal assessment and postnatal follow-up are important for these high-risk multiple pregnancies.

Fetal stroke and cerebrovascular disease: Advances in understanding from lenticulostriate and venous imaging, alloimmune thrombocytopaenia and monochorionic twins.

Fetal stroke is an important cause of cerebral palsy but is difficult to diagnose unless imaging is undertaken in pregnancies at risk because of known maternal or fetal disorders. Fetal ultrasound or magnetic resonance imaging may show haemorrhage or ischaemic lesions including multicystic encephalomalacia and focal porencephaly. Serial imaging has shown the development of malformations including schizencephaly and polymicrogyra after ischaemic and haemorrhagic stroke. Recognised causes of haemorrhagic fetal stroke include alloimmune and autoimmune thrombocytopaenia, maternal and fetal clotting disorders and trauma but these are relatively rare. It is likely that a significant proportion of periventricular and intraventricular haemorrhages are of venous origin. Recent evidence highlights the importance of arterial endothelial dysfunction, rather than thrombocytopaenia, in the intraparenchymal haemorrhage of alloimmune thrombocytopaenia. In the context of placental anastomoses, monochorionic diamniotic twins are at risk of twin twin transfusion syndrome (TTTS), or partial forms including Twin Oligohydramnios Polyhydramnios Sequence (TOPS), differences in estimated weight (selective Intrauterine growth Retardation; sIUGR), or in fetal haemoglobin (Twin Anaemia Polycythaemia Sequence; TAPS). There is a very wide range of ischaemic and haemorrhagic injury in a focal as well as a global distribution. Acute twin twin transfusion may account for intraventricular haemorrhage in recipients and periventricular leukomalacia in donors but there are additional risk factors for focal embolism and cerebrovascular disease. The recipient has circulatory overload, with effects on systemic and pulmonary circulations which probably lead to systemic and pulmonary hypertension and even right ventricular outflow tract obstruction as well as the polycythaemia which is a risk factor for thrombosis and vasculopathy. The donor is hypovolaemic and has a reticulocytosis in response to the anaemia while maternal hypertension and diabetes may influence stroke risk. Understanding of the mechanisms, including the role of vasculopathy, in well studied conditions such as alloimmune thrombocytopaenia and monochorionic diamniotic twinning may lead to reduction of the burden of antenatally sustained cerebral palsy.

Post Infectious Multicystic Encephalomalacia

The term multicystic encephalomalacia is used to describe the presence of necrosis areas that turn into cystic lesions inside the brain. It is usually seen in the first year of life. We describe a case of a newborn with a large occipital encephalocele surgically treated. He complicated with Staphylococcus aureus meningoencephalitis that was treated with Vancomycin. Control computed tomography twenty-four days after surgery showed significant multicystic encephalomalacia, which is a uncommonly rapid progression, since it usually takes months for a complete cystic degeneration. The pathophysiological mechanism that we propose is a direct aggression of the bacterial infection and a disturb of the brain perfusion. Secondary to a Staphylococcus aureus infection stablished a severe infection of CNS inducing a disrupt in the vascular autoregulation. Multicystic encephalomalacia is an uncommon disease of the childhood and has a very poor outcome, early diagnosis is very important for family counseling.

Effects Of Monosodium Glutamate On Hippocampus Development In Albino Rats And Pregnant Mothers

Monosodium glutamate (MSG) is a sodium salt derivative of a natural amino acid called glutamic. The use of monosodium glutamate is very controversial in recent years. The aim of this study was to investigate the MSG administration effects on the hippocampus development in the prenatal and postnatal periods as well as its neurotoxic effects on a pregnant mother hippocampus. Sixty pregnant albino rats were used in this study and were divided into 3 equal groups: Group I, control group, Group II, pregnant mothers treated with MSG in a dose of 830 mg/Kg body weight per day orally from gestation day 0 to 19th, they were sacrificed at gestation day 20 for prenatal histological examination of fetuses brains. Group III, pregnant animals were treated with oral MSG 830 mg/Kg body weight, from the gestation day 0 and they were allowed to deliver their neonates. The mothers were maintained at the same dose of MSG orally for three weeks after delivery and their neonates were kept on breast feeding up to the age of weaning. At weaning, all neonates (males and females) of the treated mothers were sacrificed and sections of brain were stained with hematoxylin and eosin (H&E) for examination. Immunohistochemical detection of Glial fibrillary acidic protein (GFAP) and caspase-3 were detected in the brain sections of the fetuses of the group (II), neonates of the group (III) and treated mothers for evaluation of the effects of MSG intake on the hippocampus of the fetuses, the neonates and the mothers. Examination of brain sections from fetuses of (group II) treated mothers with MSG showed an alterations in the brain development compared to the fetuses of the control group (group I). Examination of the brain sections from neonates of (Group III) treated mothers with MSG as compared to the neonates of the control group (group I) revealed gliosis formed by glial cell proliferation and degenerated nerve cells. Multicystic encephalomalacia and cellular neurodegenerative changes in the hippocampus of the pregnant mothers were also observed. The statistical analysis of area percent of the GFAP and the caspase-3 immunoexpression in the brain sections of the fetuses of the group (II) and theneonates of the group (III) MSG- treated animals showed a significant increase as compared with the control group (I). Also, MSG- treated mothers showed a significant increase of the area percent of GFAP and caspase-3 immunoexpression compared with the control mothers group. Maternal administration of MSG during pregnancy and lactation has potent neurotoxic effects on brain development of the fetuses and eonates. Therefore, MSG intake should be avoided in the pregnancy and lactating periods because the hippocampus of the developing neonates and fetuses were affected by MSG.

Prenatal brain disruption in isolated sulfite oxidase deficiency

BackgroundIsolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD.ResultsWe report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth. Brain MRI at 9 days of age showed cystic lesions over the left frontal and temporal areas, diffuse and evident T2 high signal intensity of bilateral cerebral cortex, and increased T2 signal intensity of the globus pallidi. A pronounced low level of plasma cysteine and normal level of plasma uric acid were noted. Mutation analysis of SUOX revealed homozygous c.1200C > G mutations, resulting in an amino acid substitution of tyrosine to a stop codon (Y400X). The diagnosis of ISOD was made. The brain MRI of a prenatally diagnosed ISOD fetus of the second pregnancy of the mother of the index case showed poor gyration and differentiation of cortical layers without formation of cystic lesions at gestational age 21 weeks.ConclusionCystic brain destruction might occur prenatally and neurodevelopment of gyration and differentiation of the cortical layers in the developing brain could be affected by sulfite accumulation early during the second trimester in ISOD patients. This is the first description of the prenatal neurodevelopment of brain disruption in ISOD.

Treatment Approach to Infant with Sepsis and Neurological Complications Resulting in Multicystic Encephalomalacia

Background: Destructive brain lesions result from aggression to the central nervous system and can be congenital or acquired in the postnatal period. When extensive, these lesions can produce cavitations, as in multicystic encephalomalacia (MCE). The most common etiology of MCE is neonatal hypoxia and ischemia, but there are reports of cases due to viral encephalopathies and head traumas. MCE has a poor prognosis, usually resulting in severe neurological sequelas or death. This article reports a case of multicystic encephalomalacia in the Santa Casa de Misericordia de Ouro Preto-MG (Brazil) contrasting its etiology with those found in the literature as well as discussing the treatment approach to the patient. Case report: A 10-month-old child, born full-term, hospitalized since birth for treatment of sepsis of pulmonary focus evolved with fungal sepsis and supratentorial hydrocephaly leading to the implantation of a ventricular shunt. As the patient developed ventriculitis, the catheter was removed. Polymyxin B was administered intrathecally and lumbar punctures were performed to relieve the hydrocephaly. The patient maintained the alterations in the liquor exam, despite the prolonged antibiotics therapy and had multiple cystic lesions, intra and extra-ventricular, with a compressive aspect, and residual brain parenchyma on the CT, characterizing MCE. The patient passed away after a few weeks of further care and no improvement on overall status. Discussion: MCE results from a brain lesion at the end of pregnancy, during birth or in the perinatal period, and it leads to the formation of poorly defined cavities with glial reaction creating septa. The etiologies presented by the patient of fungal and bacterial infection weren't common in the literature. Conclusion: The administration of a larger spectrum antibiotic and the reimplantation of the ventricular shunt could possibly have prevented the progression of the hydrocephaly and the evolution of the case to MCE.

Multicystic encephalomalacia secondary to head trauma.

Multicystic encephalomalacia secondary to head trauma.

Cyanosis As a Signal of Perinatal Stroke: Findings at Ultrasound and MRI.

Cyanosis As a Signal of Perinatal Stroke: Findings at Ultrasound and MRI.

Imaging of Multicystic Encephalomalacia of Infancy (MICE) : A Case Report

Multicystic encephalomalacia is diffuse lesion in which cerebral parenchyma is replaced by cysts of varying size in perinatal period. The prognosis is grave and prompt recognition with neurosonography at birth may affect further management. We present case report of infant showing multicystic spaces in brain secondary to hypoxic insult.