scholarly journals Characteristics of the Central Nervous System Malformations Presented in Trisomy 13: A single-center Experience in Recognizing the Phenotype and Genotype

2020 ◽  
Vol 8 (C) ◽  
pp. 205-208
Author(s):  
Ahmad Faried ◽  
Bremmy Laksono ◽  
Danny Halim ◽  
Riksa Parikrama ◽  
Mirna Sobana ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Chromosomal Abnormalities ◽  
Early Period ◽  
Severe Infection ◽  
Trisomy 13 ◽  
Middle Income ◽  
Single Center Experience ◽  
Patau Syndrome ◽  
Cns Malformations

BACKGROUND: Patients who are diagnosed with trisomy 13 (Patau syndrome) are known to have a poor prognosis. It has been hypothesized that such poor outcomes are suspected to be attributed to their central nervous system (CNS)-malformations and cardiac-malformations. This study was conducted at Division of Neuropediatric, Department of Neurosurgery, Faculty of Medicine, Universitas Padjadjaran – Dr. Hasan Sadikin Hospital, Bandung (2012–2018). AIM: This study aimed to describe clinical characteristics and karyotype findings in patients who were diagnosed with Patau syndrome and treated at our center. Since Indonesia is still categorized as a lower middle-income country with limited resources, we expected that this study would provide a clinical reference on how a congenital disease with chromosomal abnormalities is confirmed. CASE PRESENTATION: Our cases indicate that CNS malformations are likely to be the cause of indirect mortality of patients’ early period of life. The median survival in our study is 7 days, while the longest survival is 30 days. The major cause of death is apnea, which found in 4 of 5 diagnosed infants. One patient died of severe infection. In most cases, where CNS malformations were observed microcephaly with sloping forehead, Dandy–Walker syndrome, lobar or alobar holoprosencephaly and ventriculomegaly were identified, as well as neural tube defects (NTDs) were identified, such as spina bifida and meningoencephalocele. CNS malformations, such as holoprosencephaly, may be associated with episodes characterized by temporary cessation of spontaneous breathing (apnea) as direct cause of mortality. CONCLUSION: We conclude that early treatment in Patau syndrome patient in our center should be focused on more life-threatening problem caused by CNS malformations than NTDs defects, such defects could be managed electively.

scholarly journals West syndrome and mosaic trisomy 13: A case report

2018 ◽  
Vol 58 (3) ◽  
pp. 146-50
Author(s):  
Hechmi Ben Hamouda ◽  
Habib Soua ◽  
Mohamed Dogui ◽  
Hassine Hamza ◽  
Mohamed Tahar Sfar
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Cleft Lip And Palate ◽  
Central Nervous System Involvement ◽  
West Syndrome ◽  
Trisomy 13 ◽  
Psychomotor Development ◽  
Patau Syndrome ◽  
Mosaic Trisomy

Trisomy 13, or Patau syndrome, is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly, and microphthalmia, with an incidence ranging between 1/5,000 and 1/20,000 births.1 Most patients (80%) with Patau syndrome have complete trisomy 13. Mosaic trisomy 13 is very rare; it occurs in only 5% of all patients with the trisomy 13 phenotype.2 Trisomy 13 is a clinically severe entity, and 90 to 95% of patients born with this syndrome do not survive beyond one year of life. However, patients with mosaic trisomy 13 usually have longer survival and less severe phenotype compared to patients with complete trisomy 13. Malformations mainly affect midline development, with a high frequency of central nervous system involvement. The presence of central nervous system malformations is important as a predictive factor of survival.1,3 It is well known that the incidence of epilepsy is higher in children with Patau syndrome than in the general population, and West syndrome or infantile spasms have been rarely reported in these children.1,4,5 Prior to our report, there has been no case report of West syndrome associated with mosaic trisomy 13. The association of West syndrome with trisomy 13 is considered a symptomatic West syndrome because of preexisting psychomotor development delay and the poor prognosis in most of these children.6 We report here the first case of West syndrome in a girl with mosaic trisomy 13 and discuss the clinical characteristics and prognosis of this association.

scholarly journals EPID-26. CLINICAL AND HISTOLOGICAL CHARACTERIZATION OF PRIMARY CENTRAL NERVOUS SYSTEM SARCOMA IN PEDIATRICS. A SINGLE INSTITUTION EXPERIENCE IN A MIDDLE-INCOME COUNTRY

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii84-ii84
Author(s):  
Edgar Cabrera ◽  
Nelson Aponte ◽  
Johnny Garcia ◽  
Fredy Salazar ◽  
Eric Bouffet ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pediatric Population ◽  
Progression Free Survival ◽  
Molecular Data ◽  
Middle Income ◽  
Patient Demographics ◽  
Time Period ◽  
Cell Architecture ◽  
Intracranial Lesions

Abstract INTRODUCTION Primary central nervous system (CNS) sarcomas are rare mesenchymal non-meningothelial tumors accounting for less than 0.2% of intracranial lesions. Diagnosis and management are challenging due to the current lack of substantive clinical, histological and molecular data. METHODS We retrospectively identified all patients with diagnosis of primary CNS sarcoma at the Hospital Fundación Pediatrico la Misericordia (HOMI) in Bogota, Colombia. We collected patient demographics, disease characteristics, and outcomes for analysis. RESULTS Between 2008 and 2020, twenty-four consecutive patients were diagnosed at the HOMI representing 6% of all CNS tumors diagnosed over the same time period. The median age at presentation was 9.48 years (range:1.6–13.4). The median time of symptoms prior to diagnosis was 2 weeks (0.1–24). The most common presentation was headache (21/24- 89%) and vomiting (19/24- 79%). The frontal lobe was involved in 63% of patients (15/24) and only one patient presented with a cerebellar lesion. Histologically, these tumors were characterized by a pleomorphic spindle cell architecture and high mitotic activity. All samples lacked immunoreactivity to GFAP, CD34, EMA, and S100 and all samples had strong nuclear immunopositivity for TLE-1; BCL-2 was reactive in eighteen cases. Gross total resection was attained in fifteen patients, most patients received focal radiation therapy and ICE chemotherapy. Progression-free survival at 12 and 24 months was 57% and 31% respectively. Overall survival was 77% at 12 months and 39% at 24 months. Thirteen patients relapsed, 11 presented with local failures, and 2 with intracranial recurrences outside of the radiation field. CONCLUSION Our study identifies TLE-1 as a diagnostic marker of primary CNS sarcoma, a highly malignant supratentorial tumor of childhood. Further molecular studies are urgently needed to elucidate the biology of this disease and the unusually high incidence observed in the Colombian pediatric population.

Central Nervous System Malformations in a Perinatal/Neonatal Autopsy Series

1998 ◽  
Vol 1 (1) ◽  
pp. 42-48 ◽  
Author(s):  
H. Pinar ◽  
N. Tatevosyants ◽  
D.B. Singer
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Vascular Malformations ◽  
The Body ◽  
Growth Disorders ◽  
Agenesis Of Corpus Callosum ◽  
Arterial Perfusion ◽  
Neuronal Migration Disorders ◽  
Cerebellar Malformations ◽  
Cns Malformations

Congenital malformations of the central nervous system (CNS) are among the most common anomalies, but data on the incidence of CNS malformations in autopsy populations are scant. We examined 4122 autopsies between the years 1958 and 1995. There were 363 cases (8.8%) with CNS malformations; 235 were neonates and 128 stillborns. The overall gender ratio was 1:1, although more male neonates and more female stillborns had malformations. The body weights ranged from 24 to 6440 g. Neural tube defects were the most common types of malformations (45.5%) and included anencephaly, meningoencephalocele, meningocele/meningomyelocele, craniospinal rachischisis, and spina bifida occulta. The incidences of other malformations were: congenital hydrocephalus (12.4%), neuronal/glial proliferation disorders such as micro- and macrocephaly (8.8%), neuronal migration disorders (8.8%), prosencephalon growth disorders such as holoprosencephaly and arhinencephaly (8.5%), abnormalities of the midline structures such as agenesis of corpus callosum (4.1%), developmental cysts (3.3%), cerebellar malformations (3%), and vascular malformations (2%). Miscellaneous malformations (3%) consisted of acephalia in four cases with twin reversed arterial perfusion (TRAP), two cases of hydranencephaly, and four cases of rare degenerative and metabolic encephalopathies.

Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations—A Population-Based Study

2020 ◽  
Author(s):  
Arimatias Raitio ◽  
Asta Tauriainen ◽  
Johanna Syvänen ◽  
Teemu Kemppainen ◽  
Eliisa Löyttyniemi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Infant Mortality ◽  
Chromosomal Abnormalities ◽  
Heart Defects ◽  
Population Based ◽  
Associated Anomalies ◽  
Live Births ◽  
Total Prevalence ◽  
Chromosomal Defects

Abstract Inroduction The aim of this study is to assess the changes in prevalence, mortality and termination pregnancy of omphalocele, and to identify associated anomalies. Materials and Methods A population-based nationwide register study. All cases with omphalocele were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded and analyzed, and perinatal and infant mortality and prevalence were calculated. Results There were 600 cases with omphalocele including 229 live births, 39 stillbirths, and 332 (55%) abortions. Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy. Omphalocele is often complicated with other anomalies; most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%), gastrointestinal, and urogenital malformations (both 2.0%). Proportion of chromosomal and central nervous system abnormalities were even higher in terminated pregnancies. Overall infant mortality was 22%. Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively. Conclusion Omphalocele is a rare congenital anomaly, often associated with other malformations. Our data suggest that isolated cases may be more common than previously thought. In the absence of chromosomal defects, survival is reasonably good. Regardless, more than half of these pregnancies are often terminated.

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