Background: Von Hippel–Lindau disease (VHL) is a rare multisystem neurocutaneous dis-order. The abnormalities in the corpus callosum have been observed in patients with pha-comatosis, but this has not been previously described in VHL. In this report, we present a unique case of VHL with corpus callosum agenesis.
Case Report: A 7-year-old boy was referred to the hospital because of left flank pain and vomiting. The abdominal ultrasound revealed multiple small simple cysts in both kidneys and pancreas. A radiological suspicion of VHL was raised, and further imaging examinations were recommended. Brain magnetic resonance imaging demonstrated a parallel arrange-ment of the lateral ventricles, confirming the diagnosis of complete agenesis of the corpus callosum. Brain hemangioblastomas were not detected.
Conclusion: Our case is the first to report a corpus callosum agenesis in a child with VHL, thus expanding the spectrum of neurocutaneous disorders associated with callosal anomalies.