Congenital Malformations Of Central Nervous System Research Articles

Malformações do sistema nervoso central e malformações associadas diagnosticadas pela ultrassonografia obstétrica

OBJETIVO: Identificar a prevalência de malformações congênitas do sistema nervoso central (SNC) e malformações associadas diagnosticadas pela ultrassonografia obstétrica. MATERIAIS E MÉTODOS: Estudo observacional, transversal, descritivo, em instituição de referência para gestações de alto risco. RESULTADOS: Malformações congênitas do SNC estiveram presentes sem outras malformações associadas em 65,78%, com a distribuição: hidrocefalia (37,5%), mielomeningocele (15%), encefalocele (12,5%), agenesia de corpo caloso (12,5%), anencefalia (12,5%), holoprosencefalia (7,5%), Dandy-Walker (7,5%), Arnold-Chiari (5,0%), hidranencefalia (5,0%), meningocele (5,0%), cisto aracnoideo (2,5%). Malformações congênitas de outros sistemas estiveram associadas às do SNC: craniofacial (73,9%), ortopédica (65,2%), cardiovascular (34,8%), geniturinária (30,4%), gastrintestinal (30,4%), respiratória (8,7%), sindrômica (8,7), oftalmológica (4,3%). A sensibilidade ultrassonográfica no estudo de malformações fetais do SNC foi 79,4%. A taxa de falso-negativos foi 20,5%. Dentre as limitações quantificáveis destaca-se o oligodrâmnio, presente em 25% dos falso-negativos. CONCLUSÃO: A ultrassonografia obstétrica possui boa sensibilidade no rastreio de malformações fetais do SNC, em especial com o aperfeiçoamento constante e domínio na utilização de métodos especializados, como o Doppler e a ultrassonografia volumétrica (3D/4D), contribuindo para firmar-se como modalidade de escolha nesta rotina. Complementar ao método, a ressonância magnética pode vir a fornecer subsídios para uma ainda melhor assistência perinatal.

Yield of Diagnostic Studies in Children Presenting With Complex Febrile Seizures

The objective of this study was to determine the yield of diagnostic workup in children presenting with complex febrile seizures. We performed a retrospective review of charts of patients who presented to our pediatric emergency department with complex febrile seizures (focal, prolonged, or recurrent). Patients with known seizure disorder, congenital central nervous system malformations, or hydrocephalus were excluded. The charts were reviewed for diagnostic workup. There were 71 eligible encounters (mean age, 1.5 years); 59.2% were males. None of the 71 patients had positive blood or urine cultures; none had abnormal blood count or serum chemistries. Only 1 patient who had a very abnormal presentation in febrile status epilepticus had positive cerebrospinal fluid culture and abnormal brain computed tomography scan and magnetic resonance imaging. Most patients with complex febrile seizures do not require extensive diagnostic workup.

Fetopathological Aspects of Holoprosencephaly

Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial importance to find ways of timely detection of this pathological condition. The present study AIMED at finding an association of holoprosencephaly with facial dysmorphia and anomalies of visceral organs that would alert the physician to be very careful in making the prenatal diagnosis, which may require termination of pregnancy by medical indications. The study included 15 fetuses diagnosed with holoprosencephaly out of 2095 cases analysed post-mortem in the Fetopathology Clinic at the Centre for Maternity and Neonatology in the town of Tunisia over a period of 3 years (Oct. 2006 - Oct. 2009). The fetuses were analysed macro- and microscopically. All forms of holoprosencephaly include elements of facial dysmorphism with the facial phenotypes of cyclopia, cebocephaly and ethmocephaly. It can be associated with specific internal organs anomalies, the hydrocephaly being the most common anomaly of the central nervous system. Our study suggested that holoprosencephaly can be correlated with craniofacial anomalies affecting the midfacial and medium craniovisceral structures. The anatomical variations of HPE and the phenotypic facial correlations require a systematic and targeted study of central nervous system.

Central nervous system congenital malformations in a developing country: issues and challenges against their prevention

Little efforts are geared towards prevention of CNS anomalies in the developing countries. A 1-year prospective cross-sectional analysis of the cases of CNS congenital anomalies seen in a Nigerian neurosurgical unit. This included both the children's and parents' sociodemographics, the profiles of the CNS anomalies, and the maternal obstetric health behaviors toward primary and/or secondary prevention of the anomalies. Statistical analysis was done with the Pearson's chi-square (or Fishers' exact) test. Level of significance set at P < 0.05. There were 54 cases of cranial and spinal gross CNS anomalies, including 32 neural tube defects; two thirds of the parents were low-income earners, and half had only basic education. Thirty percent of the pregnancies were unbooked; the mean gestational age (GA) at booking and commencement of obstetric micronutrient supplementation was 4.6 months. No case had periconceptional folic acid supplementation. Obstetric ultrasonography was performed late in pregnancy (mean GA 6 months), made positive diagnosis of CNS anomaly in only 14%, and was performed mainly in unsupervised private clinic settings in 98%. Little or no attention is currently paid to the prevention of CNS congenital anomalies in much of the low- and middle-income countries of the world. There is a great need to regulate the practice of obstetric ultrasonography in Nigeria. There is even a much greater, more fiercely urgent need to ensure periconceptional folic acid supplementation for all women of childbearing age through appropriate food fortification in these societies.

Outcome of Children With Prenatally Diagnosed Central Nervous System Malformations

Obstetrical & Gynecological Survey: July 2003 - Volume 58 - Issue 7 - p 447-448 doi: 10.1097/01.OGX.0000074324.21235.1F

Malformaciones del sistema nervioso central en el Hospital Clínico de la Universidad de Chile y maternidades chilenas participantes en el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC)

In Chile, the rates of central nervous system congenital malformations at birth remain high, when compared with the rest of the world. To report the rates of central nervous system congenital malformations in Chilean hospitals. Using the ECLAMC protocol, every malformed newborn or stillbirth, weighing more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. The rates of central nervous system congenital malformations are higher at the University of Chile Clinical Hospital than in the rest of Chilean hospitals or Latin American Hospitals. There are significantly higher rates of anencephalia in Concepcion and spina bifida in Valdivia, Rancagua and Concepcion. In the University of Chile Clinical Hospital, global annual rates have a negative slope of -0.0259 per 1000 born alive, with a correlation coefficient of -0.125 (p < 0.05). The slope is positive among children born alive, with an annual rate increase of 0.071. Among stillbirths, the slope is -0.47 per 1000 born alive. Sixty two percent of malformed children were female. Among children with neural tube defects, 30% had a malformed relative and, of these, 66% had the same malformation. Family clustering of neural tube defects, supports the influence of a genetic factor influencing their appearance.

Central Nervous System Congenital Malformations, Especially Neural Tube Defects in 29 Provinces, Metropolitan Cities and Autonomous Regions of China:

Data from the Chinese Birth Defects Monitoring Program (CBDMP) over the period of October 1986 to September 1987 were analysed to study the descriptive epidemiology of congenital malformations of the central nervous system (CNS), especially neural tube defects (NTDs) in China. A total of 4628 CNS congenital malformations were recorded within seven days of delivery among 1,243,284 live and stillbirths of 28 or more weeks gestation in 945 hospitals from all 29 provinces, metropolitan cities and autonomous regions of China. Neural tube defects account for 73.55% of these cases, hydrocephaly for 24.63% and microcephaly for 1.82%. The prevalence rates at birth of NTDs and congenital malformations of the CNS in China were 27.37 and 37.22 per 10,000 respectively. More NTDs were observed in females (35.68 per 10,000 female births) as compared to males (19.23 per 10,000 male births). The prevalence of NTDs in rural areas (51.69 per 10,000 births) was higher than that in urban areas (15.45 per 10,000 births).

Congenital central nervous system malformations and vinyl chloride monomer exposure: a community study.

Incidence rates for central nervous system (CNS) malformations in infants born to residents of Kanawha County, West Virginia, 1970-1974, were significantly higher than comparable United States rates during those years. Since Kanawha County contains a polyvinyl chloride (PVC) polymerization plant, a case-control study was conducted on the possible relationship between the occurrence of CNS defects and parental occupational or residential exposure to vinyl chloride monomer emissions from this plant. No relationship with parental occupation was found. While a tendency was noted for residences of case families to be located in an area northeast of the plant, this observation did not entirely correlate with existing data on local patterns of wind direction and air pollution.

Viral Infection in Pregnancy and Congenital CNS Malformations in Man

THE association between congenital central nervous system (CNS) developmental anomalies and viral infection occurring in pregnancy has been definitely shown in man with rubella virus1-4and cytomegalovirus.5-9Microcephaly, hydrocephaly, anencephaly, encephalomyelocele, meningomyelocele, and Dandy-Walker syndrome with obstructive hydrocephalus, have all been described in congenital rubella. The CNS involvement may also be in the form of an encephalomyelitis, and mental retardation is common. Like rubella, human cytomegalovirus can induce significant CNS pathology. This may take the form of a meningoencephalitis, microcephaly, hydrocephaly, microgyria, porencephaly, or periventricular calcifications. Mental retardation, seizures, and other signs of focal cerebral dysfunction are neurological features of survivors of congenital cytomegalic inclusion disease. Other viruses such as mumps,10,11herpes simplex,12-15rubeola16and influenza17,18have been linked with human congenital abnormalities, not specifically of the central nervous system. Evidence of causal relation, however, between these viruses and the congenital abnormalities is tenuous.