A high prevalence of visual impairment in patients with craniosynostotic syndromes was found, almost half of them due to potentially correctable causes, including amblyopia and ametropia. Optic atrophy remains an important cause of visual impairment. Further studies are needed to assess the timing and efficacy of intervention for modifiable causes of visual loss in craniosynostotic syndromes.

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We report a case of an 18-year-old woman presenting with headache, papilloedema, and cerebrospinal fluid (CSF) pleocytosis. She was subsequently diagnosed with acute myeloid leukaemia, which is to date the only reported case manifesting as central nervous system-localised disease in an adult. The intracranial hypertension was treated successfully with chemotherapy, acetazolamide, and CSF drainage, with no permanent visual impairment. The mechanism by which haematological malignancy causes intracranial hypertension is not fully elucidated, but we hypothesise that in our case, blast infiltration interfered with CSF reabsorption at the arachnoid granulations.