Case Report: Sustained Cognitive Improvement and Reversible Brain Hypoperfusion in the Context of Posterior Fossa Arachnoid Cyst Shunting Procedure in KBG Syndrome.
Aurélie Fabre, Marie-Laure Cuny, Ludovic Fillon et al.
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Case in brief
A patient with KBG syndrome and a posterior fossa arachnoid cyst underwent shunting due to progressive cyst enlargement. Preoperative assessments indicated severe autism spectrum disorder and cognitive impairments. Post-surgery, significant cognitive and behavioral improvements were observed over 18 months, with normal cerebral blood flow in the left superior temporal sulcus and reduced cyst volume. At 22 years, cognitive gains persisted, although some deficits remained.
What made this case unusual
The case highlights the potential for significant cognitive improvement following shunting of a posterior fossa arachnoid cyst in a patient with KBG syndrome, suggesting a link between cyst management and neurodevelopmental outcomes.
Diagnostic / clinical pearl
Clinicians should consider the impact of posterior fossa arachnoid cysts on cognitive function in patients with genetic syndromes like KBG, as surgical intervention may lead to substantial improvements.
Why it matters
This case underscores the importance of monitoring and addressing structural brain abnormalities in neurodevelopmental disorders, as they may influence cognitive and behavioral outcomes.