Abstract
Diffuse intrinsic pontine glioma (DIPG), now reclassified as diffuse
midline glioma (DMG), is the most common cause of mortality from
paediatric central nervous system (CNS) tumours. Diagnosis is made based
on characteristic clinical presentation and neuro-imaging findings.
Prognosis is poor, with minimal therapeutic options, reflected in a
median survival of under 12 months. We present a patient with Pendred
syndrome, diagnosed with DMG at 2-years of age with characteristic
presentation and neuro-imaging findings, who remains asymptomatic and
well at nearly 4-years post diagnosis despite progression of the primary
lesion on serial imaging.