1. A Child with Infantile Spasms
Sidharth Puri MD
Grand Rounds - March 31, 2017

2. Patient Presentation CC HPI Persistent seizure like activity
8 yo WF w/ developmental delay who presents with intractable, daily infantile spasm-type seizures. Has been ongoing since ~3 months age and has worsened over past year.

3. History (Hx)
PMHx- Developmental delay, seizures since age of ~3 months, was evaluated at Cleveland Clinic Fhx- Noncontributory Meds- Topiramate, Clonazepam, Ranitidine, Bisacodyl Allergies- NKDA Social Hx- Lives with family, autism spectrum mentation, healthy siblings (including brother) ROS- UTO but per mom only notable for constipation

4. External Exam* OD OS VA UTO Pupils 4→3mm No rAPD IOP Soft (tactile)
EOM
Spontaneous, Full
CVF
*Patient currently under dexmedetomidine drip for sedation, can follow some commands though, and under continuous EEG

5. Anterior Segment Exam PLE OD OS External/Lids Wnl Conj/Sclera
White and Quiet
Cornea
Clear
Ant Chamber
Formed
Iris
Lens

6. Posterior Segment Exam
Fundus OD OS
Optic Nerve
Pink and sharp, Discrete lacuna superior to ON
Pink & Sharp, Multiple hyperpigmented lesions inferonasal to ON in bear track pattern
Macula
Good foveal reflex
Vessels
Normal caliber
Normal Caliber
Periphery
Wnl

7. DFE OD OS

8. MRI Brain 2015
Hypoplasia of the anterior commissure and corpus callosum rostrum

9. Assessment Differential Diagnosis Agenesis of Corpus Callosum
Aicardi Syndrome
Lennox-Gastaut Syndrome
Dandy-Walker Syndrome
Oral facial digital syndrome
Congenital Toxoplasmosis

10. Aicardi Syndrome
Primarily found in females (hemizygous lethality in males!!)
Epidemiology- Rare Disease
~1:105, ,000 (including males & females)

11. Aicardi Syndrome Clinical Pearls
Female, early in life, w/ refractory infantile spasms/epilepsy or developmental delay

12. Aicardi Syndrome CLASSIC Triad of Features Major Features
Agenesis of Corpus Callosum
Chorioretinal Lacunae
Infantile Spasms
Major Features
Coloboma of ON (often unilateral)
Cortical Malformations
Periventricular heterotropia
Intracranial cysts
Papillomas of choroid plexus
Supporting Features
Vertebra & costal abnormalities
Microphthalmia and/or other eye abnormalities
Split brain EEG
Gross cerebral hemispheric asymmetry

13. http://webeye. ophth. uiowa. edu/eyeforum/atlas/pages/Aicardi/index

14. http://www. eurorad. org/eurorad/view_figure. php

16. https://radiopaedia.org/cases/aicardi-syndrome-1

17. Aicardi Syndrome Chorioretinal Lacunae (Pathognomonic finding)
Different from colobomas
Defined margins, poorly differentiated/absent choriocapillaris, thin but intact Bruch’s membrane, +/- retinal cysts
1/2-3x DD size
Stable size and number over time
Do not affect vision typically unless involving central fovea
*Embryology Pearl*
Abnormal eye development at 4-8 wk gestational age, similar to corpus callosum development

18. Management Currently no treatment for visual dysfunction
Medical/Surgical management for seizures

19. Prognosis Limited visual prognosis, total blindness rare.
More foveal involvement of lacunae, likely positive correlation with vision loss
Survival highly variable
Correlated with spectrum of systemic disease, including organ system dysfunction and seizures
Majority of patients live into early adulthood

20. Takeaway Clinical Pearls
Aicardi Syndrome – RARE, females, intractable seizures, young
Classic triad- absent corpus callosum, chorioretinal lacunae, infantile spasms
Currently no treatment, visual prognosis variable

21. References
Aicardi J. Aicardi Syndrome: Old and New Findings. Int Pediatr. 1998; 14(1):5-8.
Sutton VR, Van den Veyver IB. Aicardi Syndrome Jun 30 [Updated 2014 Nov 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;  Available from:
McMahon R, Bell R, Moore G, Ludwin S. Aicardi's Syndrome: A Clinicopathologic Study. Arch Ophthalmol. 1984; 102(2):250-3.
Beres, S. Aicardi Syndrome
Parag K Shah, V Narendran, and N Kalpana. Aicardi syndrome: The importance of an ophthalmologist in its diagnosis. Indian J Ophthalmol May-Jun; 57(3): 234–236.
K. K. Suk; G. A. Lalwani; T. G. Murray; D. Hess; A. M. Berrocal. Retinal Findings in Patients With Aicardi Syndrome. Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2209.
BSCS Pediatric Ophthalmology and Strabismus