Non-infantile desmoplastic cerebellar ganglioglioma in a patient with multiple congenital anomalies: a rare association.

ABSTRACT

Numerous syndromes with craniofacial, cardiac, cutaneous and vascular anomalies have been described in the literature. Here we report on a 9-year-old girl who was diagnosed as having a clavicular arteriovenous malformation with limb enlargement, an axillary port wine stain and macrocephaly with frontal bossing. She was investigated for enlarged head size; although she did not have hydrocephalus as initially suspected, she was found to have a right cerebellar lesion. This was excised and the pathology report was diagnostic of desmoplastic ganglioglioma. The posterior fossa is a very rare location for gangliogliomas. This was a desmoplastic variant that is only encountered in infants. Thus, the location and the pathology made the tumour rare. In addition, the cranio-vasculo-cutaneous lesions made this previously unreported association noteworthy.