eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | west syndrome |
| Comorbidity | C0037769|infantile spasms |
| Sentences | 7 |
| PubMedID- 25160545 | Results: infant 1 developed infantile spasms with confirmed hypsarrhythmia at 4 months of age. |
| PubMedID- 26125044 | Vigabatrin (vgb; γ-vinyl-gaba; sabrilr), an antiepileptic agent that irreversibly inhibits gaba-transaminase (gaba-t) (fig.1), is an fda-approved agent employed therapeutically in infantile spasms associated with west syndrome, secondary generalized seizures, and complex partial seizures.1,2 in a study of school age children who had received vgb as infants, riikonen and coworkers3 detected visual field defects (vfd) in one third, and further verified that the rate of vfds increased from 9% to 63% as the duration of vgb treatment had increased during infancy. |
| PubMedID- 25885527 | In addition to early onset infantile spasms with hypsarrhythmia on eeg, idd and profound developmental delay, the patients with more severe manifestations of piga germline mutations (patients: iv-2, iv-4 [15], iii-1 [17], iii-9 [16], 1, 2, and 5 [18], and our case [this report]) also present with dysmorphic facial features, multiple cns abnormalities, such as thin corpus callosum and delayed myelination, as well as hypotonia (table 1). |
| PubMedID- 26280806 | Background: there is poor inter-rater agreement in determining the presence or absence of hypsarrhythmia among patients with infantile spasms. |
| PubMedID- 20818257 | Its salient clinical features are infantile spasms, agenesis of corpus callosum, hypsarrhythmia, and a pathognomonic optic disc appearance consisting of multiple depigmented chorioretinal lacunae clustered around the disc. |
| PubMedID- 20398390 | infantile spasms are typical of west syndrome and are characteristically associated with so called "hypsarrhythmic" eeg. |
| PubMedID- 23916859 | Patient: a boy patient exhibited severe developmental delay, microcephaly, hypotonia, intractable seizures including infantile spasms with hypsarrhythmia at 6 months old, and dandy-walker malformation on magnetic resonance imaging. |
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