Related Experiment Videos
[A case of Aicardi syndrome with moderate psychomotor retardation]
1Department of Neuro-Pediatrics, Simonoseki Welfare Hospital.
Insights
Aicardi syndrome can present with mild psychomotor retardation, characterized by late-onset seizures that respond well to ACTH therapy and agenesis of the corpus callosum.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Aicardi syndrome is a rare genetic disorder typically associated with severe developmental delays and epilepsy.
- Understanding variations in clinical presentation is crucial for accurate diagnosis and management.
Observation:
- A five-year-old female with Aicardi syndrome exhibited moderate psychomotor retardation, but with preserved ambulation and communication skills.
- The patient experienced infantile spasms (salaam convulsions) at six months, which resolved with ACTH treatment.
- Later, myoclonic and head-nodding seizures developed, proving refractory to treatment.
Findings:
- This case, along with eleven others, suggests a subset of Aicardi syndrome with mild psychomotor retardation.
- Key features in these mild cases include late-onset seizures, positive response to ACTH therapy, and agenesis of the corpus callosum without other significant brain abnormalities.
- The patient's developmental milestones (walking at two years, single words at 1.5 years) were relatively preserved compared to typical Aicardi syndrome presentations.
Implications:
- Recognizing milder forms of Aicardi syndrome can lead to earlier diagnosis and intervention.
- The positive response to ACTH therapy in these cases highlights its potential therapeutic role.
- Further research into the genetic and clinical factors differentiating mild from severe Aicardi syndrome is warranted.
Abstract:
A five-year-old girl of Aicardi syndrome showed moderate psychomotor retardation. She could walk and communicate. At six months of age, she developed salaam convulsion with series. Convulsions disappeared immediately after ACTH treatment. At eighteen months of age, she developed myoclonic seizures. From three years of age, head-nodding seizures with series relapsed and could not be controlled. But she could walk alone at two years old and speak a word at one and half years old. A degree of her psychomotor retardation was more slightly than others published cases of Aicardi syndrome. There were eleven reports, included our case, with mild retardation in Aicardi syndrome. The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum.