Synonyms:
a.k.a. Aicardi-Goutieres syndrome,
Diagnosis:
Triad:
- Infantile spasms in flexion
- agenesis of corpus callosum
- ocular abnormalities
Clinical features:
Birth to childhood, progressive encephalopathy
Seizures: infantile spasms, alternanting hemiconvulsions
Microcephaly, spasticity, dystonia,
Ocular:
- Visual inattention and abnormal eye movement
Coloboma, lacunes in the retina,
Fatal or persistent vegetative state
Genetics:
X-linked dominant
Heterogenous
Findings on Investigations:
EEG:
- Bursts of asynchronous slow waves, spike & sharp waves alternating with suppressed EEG
CT: calcifications, vertebral anomalies
MRI: agenesis of the corpus callosum
CSF: lymphocytosis