Glaucoma-simulating cupping in a patient with periventricular leukomalacia: a clinical case report / Escavação simulando glaucoma em paciente com leucomalácia periventricular: relato de caso clínico

ABSTRACT Non-glaucomatous papillary cupping constitutes an important differential diagnosis in daily medical practice. There are patients diagnosed and treated as glaucoma, who do not present the disease and are part of the large group of non-glaucomatous optic neuropathies. This case emphasizes directing the diagnostic gaze to these "apparently glaucomatous" optic nerves through a case of periventricular leukomalacia. Patients with a history of prematurity, alterations in the cerebral white matter and presence of optic nerve excavations with normal intraocular pressures.

RESUMO A escavação papilar não glaucomatosa constitui um importante diagnóstico diferencial na prática médica diária. Há pacientes que recebem o diagnóstico de e tratamento para glaucoma, que não apresentam a doença e fazem parte do grande grupo de neuropatias ópticas não glaucomatosas. Este caso enfatiza o direcionamento do olhar diagnóstico para nervos ópticos "aparentemente glaucomatosos" através de um episódio de leucomalácia periventricular. Pacientes com histórico de prematuridade, alterações na substância branca do cérebro e presença de escavações do nervo óptico com pressões intraoculares normais.

Postnatally confirmed COL4A1 mutation in a fetus with recurrent intraparenchymal hemorrhage and cystic leukomalacia / 中华围产医学杂志

We report a fetus with recurrent intraparenchymal hemorrhage and cystic leukomalacia during pregnancy who was postnatally detected with a de novo mutation in the COL4A1 gene by genetic testing of umbilical cord blood. Multiple fresh hemorrhagic foci were detected in the fetal brain parenchyma and cerebellar hemisphere by ultrasound at 25 gestational weeks. Regular re-examination of the nervous system's ultrasound and magnetic resonance imaging (MRI) indicated recurrent multiple intraparenchymal hemorrhages followed by cystic leukomalacia. However, karyotyping and chromosomal microarray analysis of amniotic fluid showed no abnormality. The newborn was born by cesarean section at 37 +3 gestational weeks with an Apgar score of 10 at 1 and 5 min. Repeated apnea occurred after birth. MRI detected new intraparenchymal hemorrhage and cystic leukomalacia on the six-day of life. The infant's limb muscle tone remained low on the 90-day follow-up. The patient was lost to follow up. Whole-exome sequencing of the cord blood identified a de novo heterozygous mutation- c.4738G>A in the COL4A1 gene (NM_001845.4; p.G1580S) neither parent carried. It suggests that the genetic test of the COL4A1 mutation should be considered for fetuses with intracranial hemorrhage in the prenatal diagnosis, especially those with recurrent fetal intraparenchymal hemorrhage followed by cystic leukomalacia. Genetic tests could help analyze the fetal prognosis, and guide the delivery mode.

Fibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico / Fibrodysplasia ossificans progressiva: report of one case

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.

Comparison of Clinical Factors and Neurodevelopmental Outcomes between Early- and Late-Onset Periventricular Leukomalacia in Very Low Birth Weight Infants

PURPOSE: To analyze and compare the clinical factors and neurodevelopmental outcomes compare early- and late-onset periventricular leukomalacia (PVL) in very low birth weight infants (VLBWI). METHODS: We performed a retrospective study involving 199 newborn infants weighing < 1,500 g admitted to the neonatal intensive care unit between March 2009 and December 2015. VLBWI with PVL were categorized into early- and late-onset PVL groups based on the time of diagnosis based on 28 days of age. We analyzed the clinical factors and neurodevelopmental outcomes between the groups. RESULTS: The incidence rate of PVL was 10.1% (16/158). The Apgar score at 1 minute and the mean duration of tocolytic therapy were associated with the development of PVL. The incidence rate of premature rupture of membranes (PROM) was significantly higher in the early-onset PVL group (P=0.041). No significant differences were observed in neurodevelopmental outcomes between the early- and late-onset PVL groups. CONCLUSION: Results suggest that a higher incidence of PROM was associated with clinical characteristics in the early-onset PVL group. No significant intergroup differences were observed in neurodevelopmental outcomes; however, the Bayley Scales of Infant Development-III scores were lower in the early-onset PVL group.

Risk Factors for Brain Damage in Preterm Infants After Late-Onset Circulatory Collapse Events

PURPOSE: This study aimed to identify risk factors for brain damage in infants with late-onset circulatory collapse (LCC), a circulatory failure that responds to glucocorticoid therapy. METHODS: We retrospectively reviewed 167 infants (gestational age < 35 weeks) who had hypotension between April 2009 and March 2017 at Boramae Medical Center. Forty infants were diagnosed with LCC and divided into two groups based on ultrasonography and magnetic resonance imaging findings: infants with periventricular leukomalacia (n=9) and those with normal images (n=31) after LCC. The clinical factors of these two groups, including perinatal characteristics, clinical features during the LCC period, and neonatal morbidities, were compared. RESULTS: There were no significant differences in perinatal characteristics and postnatal morbidities between the two groups. Postnatal age was greater in the group with brain damage (16 days vs. 24 days, P=0.047). The lowest mean blood pressure (MBP) and lowest serum sodium concentration were significantly lower in the brain damage group (19 mm Hg vs. 22 mm Hg, P=0.034; 125 mmol/L vs. 129 mmol/L, P=0.043). There were no significant differences in other clinical factors, including cortisol levels, and inotrope and hydrocortisone use. In multivariate logistic regression, older postnatal age (odds ratio [OR], 1.147; P=0.049), lower MBP (OR, 0.616; P=0.031), and lower sodium concentration (OR, 0.728; P=0.037) during the LCC period highly predicted brain damage in infants with LCC (area under the curve 0.882, P=0.001). CONCLUSION: Close monitoring of LCC signs even in long-term stable preterm infants and management for preventing severe hyponatremia and hypotension are important to minimize the occurrence of brain damage in infants with LCC.

Encefalopatía hipóxicoisquémica en el periodo perinatal, evaluación por resonancia magnética / Hypoxic Ischemic Encephalopathy in the Neonatal Period, Evaluation with Magnetic Resonance

La hipoxia perinatal es una condición médica que tiene una incidencia de dos a cuatro casos por cada mil nacidos vivos. Las principales causas están relacionadas con condiciones que se dan en el anteparto. La evaluación por resonancia magnética (RM) es un método fundamental para determinar el tipo y extensión del compromiso. Se realizó una revisión de la literatura radiológica disponible y posteriormente una evaluación retrospectiva de los pacientes de nuestra institución con el fin de ilustrar, con ejemplos de la práctica diaria, las diferentes presentaciones de dicha entidad, según la edad del paciente al momento de la lesión y el grado de la misma. Se confirmó la utilidad de la RM para caracterizar las diferentes lesiones secundarias a la hipoxia en el periodo perinatal.

Hypoxic ischemic encephalopathy has an incidence between two and four in a thousand newborns. The main causes are related to prenatal factors. Evaluation by MRI has a fundamental role to determine the type and degree of injury. In the following study we reviewed the most concise available radiologic literature and then we made a retrospective evaluation of different cases in our institution to illustrate with examples of our daily practice the different presentations of this entity according to the age of the patient, the timing of the injury and its severity. The value of MRI to characterize the different presentation of these lesions in the perinatal period was confirmed.

Mechanisms of vascular endothelial growth factor receptor 2 expression regulation by erythropoietin in a premature rat model of periventricular white matter damage / 中华围产医学杂志

Objective@#To explore the mechanisms of vascular endothelial growth factor receptor 2 (VEGFR2) expression regulated by recombinant human erythropoietin (rh-EPO) in a premature rat model of periventricular white matter damage. @*Methods@#Sprague-Dawley rats aged three days were randomly divided into five groups: sham group without hypoxia-ischemia (HI), HI group (HI with saline administration), HI+erythropoietin (EPO) group, HI+erythropoietin receptor (EPOR) antagonist group and HI+EPO+EPOR antagonist group. Rat pups were either subjected to permanent ligation of the right common carotid artery and 6% O2+94% N2 for two hours (HI) or sham operated and exposed to normal air (sham). After the operation, rats in the HI+EPOR antagonist and HI+EPO+EPOR antagonist groups received a single intraventricular injection of EPOR antagonist (5 μl). Four hours after the operation, rats in the HI+EPO and HI+EPO+EPOR antagonist groups received a single intraperitoneal injection of rh-EPO (5 U/g). Western-blot was performed to detect EPOR, phosphorylated EPOR (p-EPOR), extracellular regulated protein kinases (ERK) and phosphorylated ERK (p-ERK) at 60 and 90 minutes after the models were established successfully, and also used to analyze the expression of VECFR2 on day 2 and 4. Analysis of variance and SNK test were used as statistical methods. @*Results@#At 60 and 90 minutes after model establishment, the expression of EPOR protein in rat brain tissues was increased in HI (1.717±0.206 and 1.416±0.242), HI+EPO (2.557±0.222 and 2.111±0.159) and HI+EPO+EPOR antagonist (1.547±0.170 and 1.452±0.250) groups as compared with that in sham group (1.095±0.182 and 0.751±0.136), that in HI+EPO group was higher than that in HI and HI+EPO+EPOR antagonist groups, and that in HI+EPOR antagonist group (1.088±0.160 and 1.020±0.174) was lower than that in HI group. All differences were statistically significant (F=30.154 and 20.265, both P<0.05). The expressions of p-EPOR, p-ERK and VEGFR2 in the five groups were consistent with the expression of EPOR, and the differences were also statistically significant (all P<0.05). In addition, the expression of VEGFR2 in HI+EPO+EPOR antagonist group was lower than that in HI group on day 4 (1.053±0.118 vs 1.439±0.074, F=54.248, P<0.05). No statistically significant difference in ERK expression was found among all groups at 60 or 90 minutes after modeling (F=1.117 and 0.734, both P>0.05). @*Conclusions@#ERK signaling pathways will be affected by EPO binding to EPOR. As a result, VEGFR2 expression was increased leading to enhanced angiogenesis in a premature rat model of periventricular white matter damage.

Mechanisms of vascular endothelial growth factor receptor 2 expression regulation by erythropoietin in a premature rat model of periventricular white matter damage / 中华围产医学杂志

Objective To explore the mechanisms of vascular endothelial growth factor receptor 2 (VEGFR2) expression regulated by recombinant human erythropoietin (rh-EPO) in a premature rat model of periventricular white matter damage.Methods Sprague-Dawley rats aged three days were randomly divided into five groups:sham group without hypoxia-ischemia (HI),HI group (HI with saline administration),HI+erythropoietin (EPO) group,HI+erythropoietin receptor (EPOR) antagonist group and HI+EPO+EPOR antagonist group.Rat pups were either subjected to permanent ligation of the right common carotid artery and 6％ O2+94％ N2 for two hours (HI) or sham operated and exposed to normal air (sham).After the operation,rats in the HI+EPOR antagonist and HI+EPO+EPOR antagonist groups received a single intraventricular injection of EPOR antagonist (5 μ l).Four hours after the operation,rats in the HI+EPO and HI+EPO+EPOR antagonist groups received a single intraperitoneal injection of rh-EPO (5 U/g).Western-blot was performed to detect EPOR,phosphorylated EPOR (p-EPOR),extracellular regulated protein kinases (ERK) and phosphorylated ERK (p-ERK) at 60 and 90 minutes after the models were established successfully,and also used to analyze the expression of VECFR2 on day 2 and 4.Analysis of variance and SNK test were used as statistical methods.Results At 60 and 90 minutes after model establishment,the expression of EPOR protein in rat brain tissues was increased in HI (1.717±0.206 and 1.416±0.242),HI+EPO (2.557±0.222 and 2.111±0.159) and HI+EPO+EPOR antagonist (1.547±0.170 and 1.452±0.250) groups as compared with that in sham group (1.095±0.182 and 0.751 ±0.136),that in HI+EPO group was higher than that in HI and HI+EPO+EPOR antagonist groups,and that in HI+EPOR antagonist group (1.088±0.160 and 1.020±0.174) was lower than that in HI group.All differences were statistically significant (F=30.154 and 20.265,both P＜0.05).The expressions of p-EPOR,p-ERK and VEGFR2 in the five groups were consistent with the expression of EPOR,and the differences were also statistically significant (all P＜0.05).In addition,the expression of VEGFR2 in HI+EPO+EPOR antagonist group was lower than that in HI group on day 4 (1.053 ± 0.118 vs 1.439± 0.074,F=54.248,P＜0.05).No statistically significant difference in ERK expression was found among all groups at 60 or 90 minutes after modeling (F=1.117 and 0.734,both P＞0.05).Conclusions ERK signaling pathways will be affected by EPO binding to EPOR.As a result,VEGFR2 expression was increased leading to enhanced angiogenesis in a premature rat model of periventricular white matter damage.

Cystic periventricular leukomalacia: magnetic resonance imaging changes and motor development outcomes in neonates at different stages after birth / 中国新生儿科杂志

Objective To compare the magnetic resonance imagings (MRI) of neonates diagnosed with cystic periventricular leukomalacia (cPVL) at different stages after birth , and to clarify the relationship of MRI and motor development outcomes.Method Data of neonates admitted to the Shengjing Hospital of China Medical Univerisity from January 2010 to May 2015 diagnosed with cPVL by MRI were studied retrospectively.Subjects were assigned into two groups according to time of diagnosis : early－diagnosed group (≤7 d) and late－diagnosed group (＞7 d).The MRI and subsequent motor development outcome were compared between two groups.Result There were 35 neonates in early－diagnosed group.The cysts were mainly located in the anterior horn of the lateral ventricle (35 infants), the body of the lateral ventricle (2 infants) and the centrum semiovale (1 infants).Only one cyst were found in 17 infants, two cysts in 14 infants, three or more cysts in 4 infants.There were 45 cases in the late－diagnosed group, the cysts were mainly located in the centrum semiovale ( 35 infants ) and the posterior horn of the lateral ventricle (34 infants), the body (20 infants) and the anterior horn (10 infants) of lateral ventricle.Only one cyst were found in 3 infants, two cysts in 5 infants, three or more cysts in 37 infants.Among the 23 infants in the early－diagnosed group with follow－up, 22 infants are clinically normal , one infant with spastic diplegia (4.3%).Among the 24 infants in the late－diagnosed group with followe－up, 4 infants are clinically normal , 20 infants with spastic hemiplegia , diplegia or quadriplegia (83.3%).There are significant differences of incidence of cerebral palsy between the two group (P＜0.05).Conclusion MRI imaging showed that the location, number of cysts are different between the early－diagnosed and late－diagnosed group, and the motor development outcome of the early－diagnosed group are better , which indicates the prognosis of cPVL that occurred in utero are better than acquired cPVL after birth.

A study on changes of brain tissue inflammatory cytokines in neonatal rats with periventricular leukomalacia / 中国新生儿科杂志

Objective To study inflammatory cytokines changes in brain tissue of neonatal rats with periventricular leukomalacia (PVL).Method A total of 80 neonatal SD rats (P3) were randomly assigned into 2 equal groups,sham-operated group and PVL group.Rats in each group were further assigned into four subgroups (12,24,48,72 h),with 10 rats in each subgroup.The hypoxic-ischemic PVL modal were established following the procedure:first,isolation and ligation of left common carotid artery,and then exposed to 8％ O2 and 92％ N2 for 2.5 h.The sham-operated rats were processed with isolation of left common carotid artery only.Rats of the four subgroups were sacrificed at 12,24,48 h and 72 h respectively,then the brains were rapidly removed in corresponding time.Pathological changes of brain tissues were observed using HE stain.The mRNA expression levels of tumor necrosis factor α(TNF-α)and inter leukin-1β (IL-1β) were assessed using real-time quantitative PCR assays,the protein levels of TNF-α and IL-1β were detected using enzyme linked immunosorbent assay method.Result The brains tissues of rats in PVL group showed remarkably hyperemia and edema,with left ventricle enlargement.Periventricular white matter structure was disintegrated comparing with sham-operated group.The expression of TNF-α and IL-1 β mRNA in PVL group increased significantly,reaching peak by 24 h and then gradually decreased 72 h after the procedure.The mRNA levels of TNF-c and IL-1 β were significantly different between each two time points of 12,24 h and 48 h in PVL group (P ＜0.05).However,there was no differences between 72 h and 48 h within PVL and sham-operated group group(P ＞0.05).In PVL group,the protein expression trends of TNF-α and IL-1 β were similar to mRNA expression trends.Moreover,the protein levels were significantly different between each two time points of TNF-α and IL-1 β,respectively (P ＜ 0.01).The protein expression levels of TNF-α were different at each time point between PVL group and sham-operated group[(189.2 ± 20.4) pg/ml vs.(131.4 ±5.2) pg/ml at 12 h,(213.8 ± 16.7) pg/ml vs.(127.7 ±7.4) pg/ml at 24 h,(181.7 ± 15.0) pg/ml vs.(126.3 ± 6.0) pg/ml at 48 h,(159.6 ± 25.3) pg/ml vs.(131.4 ± 6.0) pg/ml at 72 h;P ＜0.01].The protein levels of IL-1β were different between the two groups only at 24 h and 48 h.[(121.8 ±30.0) pg/ml vs.(67.4 ± 13.7) pg/ml,(83.3 ± 15.7) pg/ml vs.(65.3 ± 14.9) pg/ml;P ＜0.05].In sham-operated group,no differences of TNF-α and IL-1 β protein levels were found between any different time points (P ＞ 0.05).Conclusion Inflammatory cytokines such as TNF-α and IL-1β are involved in ischemic-hypoxia induced PVL.Dynamic detection of inflammatory factors is expected to be an important method of early diagnosis,assessment of treatment efficacy and prognosis of PVL.

Leucomalácia periventricular como causa de encefalopatia da prematuridade / Periventricular leukomalacia as causes of encephalopathy of prematurity

A leucomalácia periventricular (LPV) é, na atualidade, a causa mais importante de lesão cerebral no lactente prematuro, determinando sequelas ao neurodesenvolvimento. Este trabalho objetiva avaliar o conhecimento atual acerca da fisiopatologia da LPV, seus principais tipos de lesões, métodos diagnósticos disponíveis, tratamento e as consequências ao neurodesenvolvimento dos prematuros e métodos preventivos. Foi realizada a busca de artigos na base de dados do Medline, por meio do Pubmed, usando os termos: leucomalácia periventricular, paralisia cerebral e prematuridade. Foram selecionados os artigos mais relevantes, além de estudos históricos. A LPV difusa caracteriza-se por lesões microscópicas e deve-se à destruição de pré-oligodendrócitos e as sequelas neuropatológicas são a diminuição da mielinização e ventriculomegalia. Existe associação causal entre infecção materna, inflamação placentária e a leucomalácia periventricular, por ocasionarem aumento de citoquinas inflamatórias na circulação fetal. Não existe tratamento médico corrente para LPV. Inibidores de radicais livres estão sendo investigados para determinar se eles têm papel na prevenção da injúria aos oligodendrócitos na LPV. A prevenção do nascimento prematuro é o meio mais importante de prevenir LPV; e serviços de follow up para esses recém-nascidos são necessários para se diagnosticar déficits precocemente e iniciar estímulos que possam minimizar os danos neurológicos.

Periventricular leukomalacia (PVL) is currently the most important cause of brain damage in premature infants determining sequels to neurodevelopment. This study aims to evaluate the current knowledge about the pathophysiology of PVL, its main types of lesions, diagnostic methods available, treatment, consequences to the neurodevelopment of preterms, and preventive methods. A search for articles in the Medline database through Pubmed was conducted using the terms: periventricular leukomalacia, cerebral palsy, and prematurity. The most relevant articles were selected in addition to historical studies. The diffuse PVL is characterized by microscopic lesions due to pre-oligodendrocyte destruction, and the neuropathological consequences are declining myelination and ventriculomegaly. There is a causal association between maternal infection, placental inflammation, and periventricular leukomalacia caused by inflammatory cytokines increase in fetal circulation. There is no current medical treatment for PVL. Free radical inhibitors are being investigated to determine whether they have a role in preventing injury to oligodendrocytes in the PVL. The prevention of a preterm birth is the most important means of preventing PVL; follow-up services to these newborns are necessary to diagnose early deficits and the start of stimuli that can minimize neurological damage.

Por que prestar assistência ao prematuro? / Why premature neonatal intensive care?

Os avanços nos cuidados perinatais nos últimos anos têm contribuído para a sobrevivência de lactentes nascidos entre 22 e 25 semanas de vida intrauterina. E a despeito da melhoria na morbidade perinatal, o nascimento pré-termo apresenta-se como um grande problema neonatal e obstétrico em nível mundial. Com as melhores práticas em perinatologia, que começa com a melhora de qualidade na atenção perinatal, é possível vislumbrar diminuição da morbidade cerebral e pulmonar no recém-nascido de extremo baixo peso. A intervenção em todos os níveis de atenção à saúde é necessária para reduzir a morbidade e mortalidade desses recém-nascidos. As sequelas mais comuns no desenvolvimento neuropsicomotor nos primeiros anos de vida são: paralisia cerebral, retardo mental, prejuízos neurossensoriais (déficit visual e auditivo), além de disfunção neuromotora e de coordenação. Com base na revisão da literatura, o objetivo deste artigo é fazer uma atualização da assistência à prematuridade, ressaltando seus principais pontos de atuação a fim de minimizar danos ao recém-nascido pré-termo.(AU)

Perinatal care in the last few years has contributed to the survival of neonates born after 22-25 weeks of intra-uterine life. In spite of reductions in perinatal morbidity, preterm birth remains a worldwide neonatal and obstetric challenge. Better perinatology practices, beginning with better quality perinatal care, have allowed for decreased cerebral and pulmonary morbidity of extreme low-birthweight neonates. Interventions at all levels of health care are necessary to reduce the morbimortality of these neonates. The most common neuropsychomotor sequelae in the first years of life are: cerebral palsy, mental retardation, neurosensorial impairment (visual and auditory deficits), and neuromotor and coordination deficits. We reviewed the literature and updated the issue of premature neonatal care, highlighting the main interventions aimed at reducing injury to these neonates.(AU)

Leucoencefalopaíía quística no megalencefálica s. encefalopatía hipoxicoisquémmica: dificultades en el asesoramiento genético / Non-megalencephalic cystic leukoencephalopathy compared to hypoxic ischemic encephalopathy: difficulties in geneticassessment

Existen varias enfermedades que alteran la conformación de la mielina. Éstas se clasifican en Leucoencefalopatías primarias y secundarias, algunas de ellas con características clínicas, radiológicas, bioquímicas y moleculares que permiten realizar una aproximación diagnóstica. Pese a ello, muchas de éstas tienen cuadros clínicos similares y ya que no se cuenta con ayudas diagnósticas para todas estas patologías, se hace complejo realizar un diagnóstico diferencial. Se presenta el análisis del asesoramiento genético de una pareja con antecedentes de una hija con cuadro de leucoencefalopatía en quien se sospecha una Leucoencefalopatía Quística No Megalencefalica (Leucoencefalopatía primaria) versus una LeucoencefalopatíaHipóxicoIsquemica (Leucoencefalopatía secundaria), donde no se logró llegar a un diagnóstico confirmado por la ausencia de herramientas diagnósticas, sobretodo de índole molecular. Desde esta perspectiva, el asesoramiento genético en esta paciente se constituye en un gran reto para el grupo multidisciplinario que maneja este tipo de casos.

Several diseases alter myelin formation; they are classified into primary and secondary leukoencephalopathies, some of them having clinical, radiological, biochemical and molecular characteristics enabling a diagnostic approach. In spite of this, making a differential diagnosis becomes complicated as many of them have similar clinical pictures and there is a lack of diagnostic aids for all such pathologies. This article analyses the genetic counselling provided for a pair whose background consisted of a daughter having a picture of leukoencephalopathy in whom non-megalencephalic cystic leukoencephalopathy (primary leukoencephalopathy) was suspected as opposed to hypoxic ischemic leukoencephalopathy (secondary leukoencephalopathy), as a confirmed diagnosis could not be reached due to a lack of diagnostic tools, particularly molecular ones. Genetic counselling for this patient thus became a great challenge for the multidisciplinary group managing this type of case.

Diagnostic value of ultrasound gray scale measurement in perinatal white matter injury / 中华围产医学杂志

Objective To investigate the value of early quantified analysis of perinatal white matter injury by cranial ultrasound gray scale measurement. MethodsThe cranial ultrasound exam was performed in 152 newborns with different gestational age0 early after their birth. These newborns were divided into two groups: 104 newborns diagnosed as white matter injury within 7 days after birth were taken as patient group; while 48 newborns who were not were taken as control group. The gray scale values in the trigone of lateral ventricle of white matter were analyzed by medical image analysis system. The newborns in patient group accepted cranial ultrasound exam at one month after birth, the grey scale value and cyst in the white matter were recorded. Three to six months old, the cranial ultrasound exam was repeated to record the change of white matter volume, morphology of lateral ventricle and change of the cysts. When they were 1.5 to 2 years old, the neurological function were quantitatively evaluated with Gesell score, and the results were classified as normal and abnormal.The relationships between gray scale value and neuro-developmental outcome were analyzed with receiver operating characteristic curve.Results During neonatal period, the average gray scale values in severely injured group was 131.72±2.40, higher than that of mildly injured group (116.61±2.48), and which in mildly injury group was higher than that in control group (100.50±1.66) (q=4. 521 and 4. 492, P＜0. 05). It was showed by receiver operating characteristic curve that gray scale value ＞114.37 could help to diagnose white matter injury, with the sensitivity of 0. 721 and the specificity of 0. 854; gray scale value ＞119.80 could help to diagnose severe white matter injury,with the sensitivity of 0. 716 and the specificity of 0. 776.As the gray scale value increased, the incidence of white matter volume decreased and the enlargement of lateral ventricle in the later period of injury increased. Patients with gray scale value ＞ 130 tended to suffer from leucomalacia. During neonatal period, the incidence of abnormal neurodevelopment before 2 years old was 5.0％ in patients with gray scale value ＜ 110, while it was 27.8 ％ in the patients with gray scale value between 110 and 120, 47.8％ in the patients with gray scale value ＞ 120.Conclusions Quantified analysis of ultrasound gray scale value might be promising in early diagnosis of perinatal white matter injury through early judgement of the outcomes of white matter injury and forward neurodevelopment.

An analysis of risk factors for cerebral patsy in newborns with periventricular leukomalacia / 中华全科医师杂志

Objective To investigate the risk factors of cerebral palsy in newborns with periventricular leukomalacia(PVL).Methods Sixty-one infants with sequela of cerebral palsy among 806 neonates born at the Second People'S Hospital of Liaocheng,Shandong,China,during December 2000 to November 2005 were studied for its etiology.Diagnosis of cerebral palsy in 26 of the 61 infants was established by type B ultrasonic scanning or magnetic resonance imaging(MRI)for the head at least twice and excluded of other diseases.Thirty-five infants without PVL hospitalized at the same hospital were enrolled as control group during the same period.Logistic regression analysis was performed for the risk factors of PVL. Results Twenty-six infants were diagnosed as PVL.accounting for 42.6％of those with cerebral palsy.Main high-risk factors of PVL included severe asphyxia(x3),low gestational age(x1),intraventricular hemorrhage(x14)and low blood pressure(x8),with odds ratios of 2.843,3.575,3.268 and 1.947,respectively,and a fitted regression model as logistic(P)=β0+0.7952 x3-1.428x1-1.328 x14+0.8256x8.Pregnant hypertension,neonate respiratory distress syndrome(NRDS),and intrauterine infection could also affect occurrence of PVL,all with statistical significance(P＜0.05).Conclusion PVL is one of main causes of cerebral palsy,with severe asphyxia,low gestational age,intraventricular hemorrhage and low blood pressure as main high-risk factors.

Intraventricular, periventricular hemorrhage and mechanisms associated to the lesion in preterm newborns / Hemorragia periventricular, intraventricular e mecanismos associados à lesão em recém-nascidos pré-termos

Este trabalho aborda em seu contexto, a incidência da hemorragia periventricular e intraventricular (HPIV) e mecanismos associados como leucomalácia periventricular (LPV) e hidrocefalia pós-hemorrágica (HPH) em recém-nascidos pré-termos. Os dados da pesquisa foram obtidos no Centro de Reabilitação Umarizal, no período de janeiro de 2004 a julho de 2005 e comparados com a bibliografia de vários autores que descreveram esta incidência. Cada paciente foi analisado, sendo correlacionadas as seguintes variáveis: idade quando realizada a triagem, diagnóstico, idade gestacional, peso ao nascimento, etiologia e sexo. Após o estudo, os resultados foram significativos em algumas variáveis: por ocasião da triagem 46% (13) com idade entre 1 e 2 anos; diagnóstico- HPIV 14% (4); LPV- 46% (13); idade gestacional de 24 a 26 semanas 32% (9); peso ao nascimento entre 2000 a 3000g 36% (10); etiologia 30% (8) com sépse; 75% (21) dos prontuários analisados eram de crianças do sexo masculino. Considerando os dados coletados, é imprescindível que haja a atuação multidisciplinar através de ações preventivas proporcionando uma maior sobrevida ao recém-nascido considerado de risco ou portador de deficiência, com a estimulação adequada prevenindo ou impedindo danos mais graves, possibilitando a criança desenvolver o máximo do seu potencial.

The main purpose of this review was to analyze the incidence of periventricular, intraventricular hemorrhage (PIVH) and associated mechanisms such as periventricular leukomalacia (PVL) and post-hemorrhagic hydrocephalus in preterm newborns. The data were obtained at the Division of Rehabilitation Medicine (DMR- HCFMUSP), Umarizal Rehabilitation Center, from January 2004 to July 2005 and compared to the specialized literature. Each patient was thoroughly analyzed and the following variables were correlated: age at the triage, diagnosis, gestational age at birth, birth weight, etiology and gender. The results were significant for some variables: 46% (13) were aged 1 to 2 years at the triage; 14% (4) had a diagnosis of PIVH and 46% (13) of PVL; 32% (9) had gestational age of 24 to 26 weeks at birth; 36% (10) had birth weight of 2,000 to 3,000g; 30% (8) presented an etiology of sepsis and 75% (21) of the patients were males. Considering the data obtained, a multidisciplinary intervention is important to improve survival of these at-risk or impaired newborns through preventive actions, by providing adequate stimulation, averting further damage and allowing maximum development of the child?s potential.

Neonatal Brain Damage Following Prolonged Latency after Preterm Premature Rupture of Membranes

This study evaluated the risk of brain damage in neonates delivered at 24- 72- 1 week. Outcomes in the longer three intervals were compared with those in neonates delivered at < or = 24 hr after pPROM. The documented outcomes were placental (histologic chorioamnionitis, vasculitis, funnisitis) and neonatal (intraventricular hemorrhage, ventriculomegaly, germinal matrix hemorrhage, periventricular leukomalacia). Odds ratios and 95% CI for the risk of histologic chorioamnionitis according to the respective latency intervals were 4.8 (1.0-22.9), 7.0 (1.1-43.1), 7.4 (2.1-42.3) in patients with pPROM. The risks of intracranial ultrasonic abnormalities, however, did not increased with prolonged latency. In the patients with preterm labor and intact membranes, the both risks did not increased with increasing latency. Therefore, this study was suggested that the risk of histologic chorioamnionitis increased with increasing latency, but there was no relationship between neonatal brain damage and latency interval after pPROM.

Study About Risk Factors, Types and Prognosis of Periv entricular White Matter Injury in Preterm Infants / 中华围产医学杂志

ObjectiveTo recognize risk factors, types and prognosis of cerebral white matter injury i n preterm infants. MethodsThrough image examination, we obse rved the development of periventricular white matter injury in 64 preterm infant s. Follow-up was done to evaluate the mental development of them. We also anal yzed the perinaltal risk factors (maternal complications during pregnancy, and n eonatal diseases at early age) that related to periventricular leukomalacia (PVL ). Results Sixty-four preterm infants showed different d egrees of periventricular white matter injury: (1) Eighteen infants had PVL, of whom 6 had multi-site PVL, and 12 presented local PVL; (2) Eight infants had pe rsistent periventricular hyperecho; (3) Thirty-eight infants had transient abno rmality. Forty-six infants were followed up. The incidence of DQ≤75 was 100% a nd 33 33% in 6 infants with multi-site PVL and in 6 infants with local PVL res pectively. Logistic analysis showed that intraventricular hemorrhage (IVH) combi ned with expanded ventricle coorrelated with cerebral white matter injury. Babie s of mother who had pregnant complications had high incidence of PVL. ConclusionPeriventricular white matter injury, especially PVL is har mful in the prognosis of preterm infant. IVH combined with ventricular expansion is an important high risk factor of periventricular white matter injury.

The Relation Between Hypocarbia and Periventricular Le ukomalacia in Preterm Infants / 中华围产医学杂志

0.05). The minimum PaCO 2 (minPaCO 2) within the first 72 h of life and duration of hypocarbia in PVL and control group were (23 0?1.2) mm Hg vs (31 0?7.6) mm Hg, and (26 .3 ?7.8) h vs (1.7?0.4) h, (P

Correlation between MRI and clinical profiles of periventricular leukomalacia in children / 中华放射学杂志

Objective To study the relationship between MRI and clinical profiles of periventricular leukomalacia (PVL) in children Methods The clinical and MRI findings in 34 cases with PVL were retrospectively analyzed Results (1) Periventricular hyperintensity on T 2WI was more prominent in the preterm group than that in the term group, and P value was 0 000; (2) Cortical lesion and subcortical leukomalacia was seen in 9 of 19 cases in the children with PVL born at term, but detected in only 1/15 in the preterm group P value was 0 020; (3)Seizure was common in term children P value was 0 036; (4) The degree of reduction of periventricular white matter correlated with motor impairment and mental retardation in all children, and P values were 0 002 and 0 000, respectively The thinning of the corpus callosum also correlated with mental retardation and P value was 0 012 The degree of reduction of periventricular white matter correlated with visual impairment in preterm group Conclusion The end stage PVL can been clearly displayed by MRI, and gestational age and clinical manifestation were closely related to the findings of MRI