CMV AND INFANTILE SPASMS

PEDIATRICS ◽  
1979 ◽  
Vol 63 (2) ◽  
pp. 285-285
Author(s):  
R. Riikonen

At the Children's Hospital, University of Helsinki, 205 children with infantile spasms who were born between 1960 and 1976 were studied in a search for the factors responsible. In 11 children (5%) the infantile spasms were possibly associated with cytomegalovirus (CMV) infection. The number may actually have been considerably higher, as no systematic search was made for CMV, especially in the early years. In four of the 11 children, the infection was probably congenital, and was the most likely cause of the spasms. One of the remaining seven children had congenital toxoplasmosis and the simultaneous CMV infection was probably also congenital. The children with congenital CMV infection exhibited severe clinical symptoms in the neonatal period or in early infancy. Two frequent symptoms were persistent tremor and meningoencephalitis. Later, all five children were severely mentally retarded and had spastic tetraplegia and small heads; three of them had optic atrophy and were blind. In the other six children, the CMV infection was probably acquired, the clinical symptoms being less severe, and the spasms may have been caused by another factor. In two of the 11 cases, immunosuppressive therapy (ACTH treatment generally given for infantile spasms) seems to have caused a fulminant CMV infection. Two children with CMV infection still show signs of a slow virus infection in the central nervous system many years later.

1999 ◽  
Vol 5 (5) ◽  
pp. 1049-1054
Author(s):  
H. Y. Al Ali ◽  
S. A. Yasseen ◽  
T. Y. Raof

Pregnant women [60]with and without serological evidence of active cytomegalovirus [CMV]infection were followed until delivery to detect the incidence and types of overt congenital CMV infection in neonates in Mosul, Iraq. Infection was diagnosed by the detection of CMV-IgM, using ELISA. CMV-IgM was detected in cord blood samples of six [10%]overtly sick infants [with different congenital malformations]born to mothers with active CMV infection. Central nervous system abnormalities were detected in all six cases [two with microcephaly and four with hydrocephaly]. Congenital CMV infection should be suspected in infants born with congenital malformations, especially those of the central nervous system. The detection of a significant number of hydrocephalus cases in our study is notable


PEDIATRICS ◽  
1977 ◽  
Vol 59 (5) ◽  
pp. 669-678 ◽  
Author(s):  
Sergio Stagno ◽  
David W. Reynolds ◽  
Catherine S. Amos ◽  
Arthur J. Dahle ◽  
Faye P. McCollister ◽  
...  

Sensorineural hearing loss was present in ten of 59 (17%) patients with congenital cytomegalovirus (CMV) infection (three of eight born with symptomatic and seven of 51 born with subclinical infection). The defect was bilateral in eight, moderate to profound in eight, and of progressive nature in two. Hearing loss did not occur in 21 patients with natal CMV infection nor in seven of 12 patients with congenital toxoplasmosis. Histopathologic and immunofluorescent studies of the inner ear in two of three neonates who died with severe infection revealed that viral antigens were widely distributed in cochlear structures. Eye pathology was associated only with congenital Toxoplasma (nine of 12) and CMV (seven of 43) infections. Visual impairments were more prominent and severe in those born with symptomatic infections, exclusively so with CMV. However, ocular defects, in particular chorioretinitis, developed after birth in five of eight patients born with asymptomatic congenital toxoplasmosis. These data firmly establish clinically inapparent congenital CMV infection as a major public health problem and confirm the fact that congenital toxoplasmosis may be associated with late-appearing, debilitating chorioretinitis.


1982 ◽  
Vol 3 (2) ◽  
pp. 139-148 ◽  
Author(s):  
John R. Martin ◽  
Jan Goudswaard ◽  
Pall A. Palsson ◽  
Gudmundur Georgsson ◽  
Gudmundur Petursson ◽  
...  

2021 ◽  
Vol 11 (10) ◽  
pp. 1295
Author(s):  
Giulia Spoto ◽  
Maria Concetta Saia ◽  
Greta Amore ◽  
Eloisa Gitto ◽  
Giuseppe Loddo ◽  
...  

Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural causes, outlining the so-called ‘Neonatal Epilepsies’. To date, three main groups of neonatal epilepsies are recognised during the neonatal period: benign familial neonatal epilepsy (BFNE), early myoclonic encephalopathy (EME) and ‘Ohtahara syndrome’ (OS). Recent advances showed the role of several genes in the pathogenesis of these conditions, such as KCNQ2, KCNQ3, ARX, STXBP1, SLC25A22, CDKL5, KCNT1, SCN2A and SCN8A. Herein, we reviewed the current knowledge regarding the pathogenic variants most frequently associated with neonatal seizures, which should be considered when approaching newborns affected by these disorders. In addition, we considered the new possible therapeutic strategies reported in these conditions.


Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  

Abstract Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with atypical Rett phenotype and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.


2021 ◽  
Vol 138 ◽  
pp. 104793
Author(s):  
Justine Demortier ◽  
Jacques Fourgeaud ◽  
Soumeth Abasse ◽  
Laurent Lambrecht ◽  
Marie Gromand ◽  
...  

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