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The boy had severe learning difficulties and large stature due to fragile X, as shown by DNA analysis at the age of 2 years 8 months with the karyotype being 46 XY Fra [X][q27]. At time of diagnosis he weighed 21 kg (99th centile), with height 101 cm (99th centile) and head circumference 51 cm (80th centile). He was an adopted child and his birth mother had moderate learning difficulties. At 10 years of age he started to have periods of headaches, vomiting and drowsiness, culminating in an episode lasting 24 h in association with a mild left hemiparesis. MRI demonstrated significant dilatation of the supratentorial ventricles with a poorly defined mass in the region of the third ventricle.
A right ventriculoperitoneal shunt was inserted to relieve the hydrocephalus together with neuroendoscopic biopsy of the third ventricular mass, which proved non-diagnostic. CSF cytology was negative as were the germ cell tumour makers. A presumptive diagnosis of low-grade astrocytoma was made. The tumour was not amenable to excision in view of the site and involvement of critical structures and an expectant course of management was followed. Yearly repeat scans showed the tumour size remained static. The patient stayed healthy, apart from one episode of isolated left ventricle hydrocephalus due to obstruction by the tumour, which was relieved by endoscopic pellucidotomy.
Four years later, at the age of 14, the patient developed...