Publication Exclusive: 6-year-old boy presents with intermittent headaches

A 6-year-old boy was referred to the New England Eye Center with symptoms of intermittent headaches for the last 3 months. The patient and his mother described the headaches as occurring three to four times per week, located primarily frontal and “on top of the head,” that would become progressively severe, lasting 1 to 2 hours, occasionally associated with nausea. Initially, it was thought the headaches may be related to concentrated activities such as reading. However, the pain was now occurring more often without any notable aggravating factors.

The patient was seen by his primary care provider for these headaches 4 weeks prior, and he was started on as-needed ibuprofen and an antacid for the occasional nausea and gastrointestinal prophylaxis. After minimal improvement, he was referred to Tufts Neurology for further work-up. Before any additional work-up for the headaches, the neurologist asked that he have a baseline eye exam performed. The patient denied any diplopia, acuity changes or eye pain. The patient lives with both of his parents in suburban Massachusetts and has no significant medical or family medical history.

The patient’s uncorrected visual acuity was 20/25 in both eyes, and his cycloplegic refraction was +0.75 +0.50 × 175 in the right eye and +1.00 +0.50 × 120 in the left eye. His external examination was normal, with no ptosis, lid retraction, exophthalmos or palpable preauricular nodes. His pupillary exam, extraocular movements, confrontation fields, color vision and IOPs were also within normal limits. Slit lamp biomicroscopy was unremarkable with no evidence of corneal disease or inflammation. The funduscopic exam revealed bilateral circumferential optic nerve elevation without any signs of hypoplasia, shunt vessels, significant hemorrhages or exudates. The remainder of the fundus exam, including retinal vasculature, macula and retinal periphery, was within normal limits.

The patient was unable to cooperate with a formal visual field exam but did have a retinal nerve fiber layer OCT that confirmed acute bilateral optic nerve swelling.

What is your diagnosis?

Intermittent headaches

Given the potentially ominous implications, the discovery of optic nerve elevation in the pediatric patient should prompt an urgent evaluation. In this unique younger population, it is important to maintain a broad differential diagnosis.

A differential for the pediatric patient with optic nerve elevation includes pseudopapilledema (optic nerve drusen, anatomic variability), infectious or post-infectious causes (Lyme, syphilis, toxoplasmosis, toxocariasis, tuberculosis, Bartonella henselae, herpes simplex virus, cytomegalovirus, paramyxovirus), inflammatory (sarcoidosis, juvenile idiopathic arthritis), infiltrative neoplastic (leukemia, lymphoma, astrocytic hamartoma), increased intracranial pressure (intracranial or nerve sheath tumors, hemorrhage, hydrocephalus, venous sinus thrombosis, idiopathic intracranial hypertension, choroid plexus tumor), optic neuritis, hypertensive crisis (pheochromocytoma), toxic/medication related (tetracyclines, sulfonamides, vitamin A analogs, ethylene glycol, methanol, lead, mercury, thallium, nutritional deficiency-thiamine, B12, B2, B3, B6), and genetic anomalies (mucopolysaccharidosis, craniosynostosis syndromes).

The potential etiology may be guided by carefully obtaining a patient history. Recent travel, current living situation (particularly assessing toxic/nutritional risks), recent fevers, chills, rashes, joint paints, lymphadenopathy, and recent or current medications are important inquiries. Headaches are a common complaint, and specific characteristics need to be elicited. Headaches from elevated intracranial pressure are often described as frontotemporal, pulsatile with slowly increasing intensity, worse in the mornings or awakening at night and often associated with nausea and vomiting (more common in children). Headache associated with refractive error (often hyperopia) is an entity classified by the International Headache Society but should be a diagnosis of exclusion only. Asymptomatic disc margin blurring found incidentally on exam is not uncommon and often signifies pseudopapilledema. Examination of parents or siblings can help to identify familial anatomic optic nerve abnormalities. Vision loss is an important finding that often signifies optic neuritis in the setting of acute disc elevation. Acute papilledema often has no visual symptoms or may have only transient visual obscurations.

Click here to read the publication exclusive, Grand Rounds at the New England Eye Center, published in Ocular Surgery News U.S. Edition, March 25, 2015.