A 12-year-old girl is referred to the office after a routine dilated eye exam shows unusual retinal lesions (Figure 1). The child has been having headaches for the past 2 years that are described as mostly in the vertex with no other associated vomiting symptoms. Headaches are intermittent and usually relieved with ibuprofen.
The girl’s mother has a history of a cerebellar tumor and hypertensive crisis, which were diagnosed after presenting with a seizure in her late 20s. The maternal grandmother had a sudden death also in her late 20s from transforaminal herniation owing to a cerebellar mass.
The patient’s mother was diagnosed with a genetic disorder through targeted genetic testing given her constellation of symptoms. Because of this family history, the patient was closely monitored to see if she would develop any signs and symptoms of the disease as she was growing up.
On physical examination, the patient’s blood pressure was 122/64 mmHg. She had no neurocutaneous stigmata. Her neurologic exam was unremarkable with normal visual acuity.
Based on the significant family history, magnetic resonance imaging (MRI) of the brain was done, which was normal. Review of her mother’s brain MRI reveals clues to the diagnosis (Figure 2).
The eyes are commonly referred to as “windows” of the brain. In this particular case, they provide an important clue to the patient’s diagnosis. The retinal lesion presented in Figure 1 shows a vascular tumor of the eye with prominent feeding vessels. This description is consistent with a retinal hemangioblastoma, also known as a retinal angioma.
Her mother’s brain MRI illustrates a cystic lesion in the right cerebellar hemisphere with a small mural nodule in the periphery. Brain lesions with this description can be either a pilocytic astrocytoma or hemangioblastoma. Posterior fossa tumors are common in childhood and have distinct features on neuroimaging to help with diagnosis. Certain tumors are sometimes associated with systemic disease or neurologic syndromes that require early diagnosis not only for appropriate management of the tumor but also for surveillance and anticipation of other potential manifestations (Table 11).