scholarly journals Infantile spasms-broad thumbs syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Infantile Spasms ◽  
Broad Thumbs

Infantile Spasms in Two Brothers with Broad Thumbs Syndrome

1990 ◽  
Vol 21 (2) ◽  
pp. 93-95 ◽  
Author(s):  
Chang Y. Tsao ◽  
Robert J. Ellingson
Keyword(s):  
Infantile Spasms ◽  
Broad Thumbs

Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

2020 ◽  
Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  
Keyword(s):  
Late Onset ◽  
Neurodevelopmental Disorder ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
The Past ◽  
Resource Limited ◽  
The Central Nervous System ◽  
Motor Milestone ◽  
Behavior And Cognition ◽  
Atypical Rett Syndrome

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.

LOW DOSE VIGABATRIN FOR THE TREATMENT OF INFANTILE SPASMS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
KL Lin ◽  
HS Wang
Keyword(s):  
Low Dose ◽  
Infantile Spasms

ETIOLOGICAL AND NEUROIMAGISTIC ASPECTS IN INFANTILE SPASMS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
F Buruiana ◽  
D Plesca ◽  
R Teleanu ◽  
AM Davitoiu ◽  
M Moiceanu ◽  
...  
Keyword(s):  
Infantile Spasms

THE UNITED KINGDOM INFANTILE SPASMS STUDY: NEURODEVELOPMENTAL OUTCOME AT 4.2 YEARS OF AGE

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
K Darke ◽  
S Edwards ◽  
E Hancock ◽  
A Johnson ◽  
C Kennedy ◽  
...  
Keyword(s):  
United Kingdom ◽  
Neurodevelopmental Outcome ◽  
Infantile Spasms ◽  
The United Kingdom

THE OUTCOME OF ACTH THERAPY FOR INFANTILE SPASMS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
YH Zhang ◽  
GL Chen ◽  
J Qin ◽  
X Wu
Keyword(s):  
Infantile Spasms ◽  
Acth Therapy
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