Blindness from late presenting undiagnosed pancraniosynostosis mimicking pseudotumor cerebri

We report the unique case of late-onset pancraniosynostosis presenting with rapid visual deterioration, without other symptoms of increased intracranial pressure. A 10-year-old girl had episodes of blurry vision for 1 month. Magnetic resonance imaging (MRI) demonstrated a borderline Chiari I malformation. Ophthalmologic exam confirmed papilledema and decreased visual acuity. Opening pressure on lumbar puncture was 55 mmH2O. The patient was diagnosed with pseudotumor cerebri and prescribed Diamox. Four days later, she re-presented with worsening vision and increased papilledema and was taken for emergent ventriculo-peritoneal shunt placement. A postoperative computed tomographic scan showed the absence of all cranial sutures. Vision had not improved. A cranial vault expansion and optic nerve fenestration was performed. Pancraniosynostosis must be considered in a child with rapid visual deterioration and increased intracranial pressure, or with the presumptive diagnosis of pseudotumor cerebri. Assurance of normal cranial suture anatomy by computed tomographic scan is imperative in patients with an atypical presentation of pseudotumor cerebri.