Disseminated pilomyxoid astrocytoma in infancy with novel MUTYH mutation

Description

A 3-month-old girl presented with 5 days of abnormal eye movements. Neurological examination was significant for axial hypotonia. MRI of the brain revealed extensive T2 prolongation and enhancement within the optic chiasm, optic nerves, bilateral basal ganglia, cerebellum and temporal lobes (figure 1). MRI of the spine showed extensive enhancement along the cervicomedullary junction and cervical and thoracic cord consistent with leptomeningeal metastatic disease (figure 2). The patient underwent right frontotemporal craniotomy for debulking of the tumour and biopsy. Neuropathology revealed a moderately cellular tumour with uniform nuclei, small amounts of myxoid material and perivascular clearing consistent with pilomyxoid astrocytoma (PMA) (figure 3). Molecular analysis demonstrated a novel MUTYH Y165C mutation. The patient died 17 months after diagnosis despite multimodal chemotherapy regimens due to disease progression.

Figure 1

T2-weighted axial (A, B), sagittal (C) and coronal (D) MRI of the brain shows...

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