Von Hippel-Lindau Disease and Agenesis of the Corpus Callosum: Report of a New Possible Association.

BACKGROUND

Von Hippel-Lindau disease (VHL) is a rare multisystem neurocutaneous disorder. The abnormalities in the corpus callosum have been observed in patients with phacomatosis, 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 arrangement 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.