Makindo Medical Notes

Aicardi Syndrome 👧🧠: A rare, X-linked dominant genetic disorder almost exclusively affecting females. Characterised by the triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. Nearly all cases are sporadic. Male cases are exceedingly rare, likely lethal in utero.

About ℹ️

• Inheritance: Sporadic, X-linked dominant (lethal in most males).
• Incidence: Extremely rare, reported almost exclusively in females.
• First described in 1965 by French neurologist Jean Aicardi.

Aetiology 🧬

• Exact gene not yet identified but thought to be on the X chromosome.
• Pathology: Agenesis or hypogenesis of the corpus callosum + retinal lesions + seizures.

Clinical Features 👩‍⚕️

• Neurological:
  • Infantile spasms (onset ~3–5 months).
  • Severe developmental delay & intellectual disability.
  • Microcephaly, cortical malformations.
  • Other seizure types common later in life.
• Ophthalmological 👁️:
  • Chorioretinal lacunae – pathognomonic retinal lesions.
  • Colobomas, microphthalmia, optic nerve abnormalities.
• Other features:
  • Distinctive facies – flat nasal bridge, short philtrum.
  • Short stature, small hands.
  • Scoliosis and skeletal anomalies.

Classic Triad 🎯

• 1️⃣ Agenesis of corpus callosum.
• 2️⃣ Infantile spasms.
• 3️⃣ Chorioretinal lacunae.

Investigations 🔍

• MRI/CT: Agenesis or hypogenesis of corpus callosum ± other cortical malformations.
• Ophthalmology exam: Confirms chorioretinal lacunae.
• EEG: Shows characteristic burst-suppression patterns early on.
• Genetic testing: No single causative gene confirmed yet; testing is supportive.

Management 💊🤝

• Seizure control: Anti-epileptic drugs (often difficult to control fully).
• Supportive care: Multidisciplinary – physio, OT, speech therapy.
• Ophthalmology follow-up: Monitor for visual impairment.
• Surgery: Orthopaedic intervention for scoliosis if progressive.
• Family support: Genetic counselling (risk of recurrence very low, as cases are sporadic).

Prognosis 📈

• Highly variable. Most children have profound developmental delay.
• Seizures often refractory to treatment.
• Life expectancy reduced, but some affected individuals survive into adulthood.

References 📚

• Genetics Home Reference – Aicardi Syndrome
• NIH Rare Diseases – Aicardi Syndrome

💡 Exam Pearl

Aicardi Syndrome = Female infant with seizures + agenesis of corpus callosum + chorioretinal lacunae. Think “Triad in girls” ✨ – pathognomonic and high-yield.