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Pediatric patient presents with new-onset diplopia and headache
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A 7-year-old boy presented to the Tufts Medical Center emergency department with a 2-week history of headache and 1-week history of binocular horizontal diplopia. He had no medical history. His ocular history was significant only for mild myopia for which he was already wearing glasses.
On evaluation in the emergency department, the patient endorsed a 2-week history of headache, which was associated with nausea, vomiting, decreased appetite and a 10-pound weight loss. The patient had taken Tylenol for the headaches without relief of symptoms. Additionally, the patient endorsed new-onset horizontal double vision over the past week. His parents noted that both eyes seemed to be turning inward. The patient also reported intermittently blurred vision in both eyes. He denied any episodes of complete loss of vision. He had no fevers, chills or rash. He denied any other focal neurologic complaints including weakness, numbness or tingling. The patient had no sick contacts. He denied any recent travel. Pediatric ophthalmology was consulted for evaluation of new-onset diplopia.
Examination
Initial bedside examination in the emergency department showed a best corrected visual acuity of 20/20 at near in both eyes. Both pupils were briskly reactive, and there was no relative afferent pupillary defect in either eye. Color vision, evaluated by Ishihara plates, was full in both eyes. Confrontational visual fields were full bilaterally. Extraocular muscle movements revealed bilateral abduction deficits (Figure 1). Alternate cover testing measured 20 D of esotropia in primary gaze at distance. The patient was orthotropic in primary gaze at near.
Images: Tirpack A, Choi C
Bedside cranial nerve (CN) examination revealed intact CN V, VII, VIII, XI and XII bilaterally. The globes were soft to palpation. The eyelids and ocular adnexa were normal. No ptosis or lagophthalmos was noted. Bedside slit lamp biomicroscopy showed normal anterior segment architecture. No anterior or posterior cell was appreciated. Dilated funduscopic examination revealed bilateral optic nerve swelling with 360° of vessel obscuration and dilated, tortuous retinal veins. No disc hemorrhages or telangiectasias were noted. The posterior pole and peripheral retina were otherwise normal. OCT of the optic nerves confirmed bilateral optic nerve swelling (Figure 2) with average retinal nerve fiber layer (RNFL) thickness of 409 µm in the right eye and 370 µm in the left eye. OCT of the maculae demonstrated normal foveal architecture in each eye with mild nasal intraretinal edema tracking from the edematous optic nerves (Figure 3).
What is your diagnosis?
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Bilateral optic disc edema
The differential diagnosis of bilateral optic disc edema is quite broad and includes neoplastic, infectious, inflammatory, hereditary and idiopathic etiologies.
Neoplastic causes, such as gliomas or meningiomas, are typically unilateral and are not associated with the bilateral motility deficits as seen in our patient. Infectious etiologies, leading to a papillitis or neuroretinitis, can cause optic disc edema. Commonly considered pathogens include Borrelia burgdorferi, Bartonella henselae and Treponemapallidum. Neuroretinitis is typically accompanied by vitreous cell and often the presence of retinal exudates, which was not seen in our patient. Additionally, an inflammatory etiology, such as an optic neuritis secondary to demyelinating disease, can present with disc edema. This was felt to be a less likely cause given the patient’s preserved visual acuity and color vision as well as the absence of pain with eye movement. It is important to note that compressive infectious and inflammatory causes can lead to a communicating or non-communicating hydrocephalus, with subsequent development of papilledema from increased intracranial pressure. Hereditary causes, such as Leber’s hereditary optic neuropathy, can present with an edematous optic nerve; however, symptoms of vision loss and the presence of telangiectasias are typically seen in this disorder. Finally, idiopathic causes of disc edema include idiopathic intracranial hypertension, which results from increased intracranial pressure without an attributable cause.
Our patient’s motility deficits were most consistent with a diagnosis of bilateral sixth cranial nerve palsies. Ultimately, his constellation of symptoms (bilateral optic disc edema, bilateral sixth nerve palsies, headache) was concerning for elevated intracranial pressure (ICP). The differential diagnosis of elevated ICP in a pediatric patient includes obstructive mass lesion, dural venous sinus thrombosis, meningitis or idiopathic intracranial hypertension. Given the high morbidity and mortality associated with this differential, emergent neuroimaging followed by lumbar puncture were recommended.
Diagnosis and management
The patient was admitted to the pediatric neurology service for further workup and management. Urgent MRI of the head was recommended to evaluate for mass lesion, hydrocephalus or evidence of meningeal enhancement. The patient’s MRI showed diffuse pachymeningeal enhancement with enhancement of multiple cranial nerves, including right CN III, bilateral CN V, left CN VI and bilateral CN VII (Figure 4). There was no evidence of optic nerve enhancement. The MRI did not show any evidence of mass lesion, hydrocephalus or dural venous sinus thrombosis. Once mass lesion was excluded by imaging, a lumbar puncture was obtained. The opening pressure was significantly elevated at 55 cm H2O. Cerebrospinal fluid (CSF) analysis showed pleocytosis with elevated lymphocytes (82%; reference range, 5% to 35%); CSF protein and glucose were within normal limits. There were no red blood cells seen. No oligoclonal bands were noted. The patient reported marked relief of his headache immediately following the lumbar puncture.
The patient’s diffuse enhancement of the meninges and multiple cranial nerves on radiographic imaging, combined with the findings of pleocytosis on lumbar puncture, was most concerning for infectious etiology. CSF was sent for polymerase chain reaction of herpes simplex 1 and 2, Epstein-Barr virus, cytomegalovirus, varicella zoster virus and mycoplasma. All PCR studies were negative. CSF cryptococcal antigen titer was also negative. The pediatric infectious disease service was consulted, and the patient was empirically started on intravenous ceftriaxone given concern for Lyme meningitis. Additionally, he was started on acetazolamide 250 mg twice daily by mouth for management of his elevated intracranial pressure. Serum and CSF Lyme IgM and IgG antibodies titers subsequently returned positive. The Lyme antibody index was elevated at 12.9, indicating intrathecal production of Lyme antibodies and confirming the diagnosis of neuroborreliosis. A peripherally inserted central catheter was placed. The patient completed a 2-week course of intravenous ceftriaxone, followed by 1 week of oral doxycycline at home.
The patient was seen in pediatric ophthalmology clinic 2 weeks after initial presentation. His headaches were resolved, and he noted near subjective resolution of his double vision. Visual acuity remained excellent at 20/20 in both eyes with myopic correction. The previously noted esotropia was resolved with the patient measuring orthotropic in primary gaze at distance and near. There was marked improvement in the previously noted bilateral abduction deficits with only trace deficits bilaterally. He continues to follow with pediatric neurology and infectious disease. The most recent clinic follow-up 1 month after initial presentation showed continued improvement with resolved abduction deficits and OCT RNFL average thickness of 156 µm in the right eye and 177 µm in the left eye.
Discussion
Lyme disease is a tick-borne illness caused by the spirochete Borrelia burgdorferi. This disease is endemic to the New England area, owing its name to early case studies in Lyme, Connecticut. The overall incidence of Lyme disease is greater in children than in adults. In children, the disease can present in a variety of ways with cutaneous, musculoskeletal, cardiac, rheumatologic, ophthalmic and neurologic manifestations. Neuroborreliosis refers to Borrelia burgdorferi infection of the nervous system and can involve both the central and peripheral nervous systems. Neuronal spread of the spirochete occurs through hematogenous dissemination or by travel along peripheral nerves. Clinical manifestations of neurologic disease include cranial neuropathies, radiculoneuropathies and meningitis.
Papilledema secondary to neuroborreliosis is a well-characterized entity in children. Infection with the spirochete leads to a diffuse meningitis and communicating hydrocephalus. Patients typically present with symptoms of increased intracranial pressure including headache, nausea, vomiting and diplopia. Ophthalmic exam usually reveals normal visual acuity and bilateral disc edema. Lumbar puncture is required to establish the diagnosis and can also be therapeutic in temporarily reducing the elevated ICP. The opening pressure is elevated, and CSF analysis reveals leukocytosis. MRI in affected patients demonstrates multiple cranial nerve and leptomeningeal enhancement. Patients can have additional imaging findings consistent with increased ICP, including optic nerve protrusion and flattening of the posterior globe. Diagnosis is confirmed by detection of Lyme IgM and IgG antibodies in both the serum and CSF. Intrathecal production of antibodies can be confirmed by elevated Lyme antibody index, as seen in our patient.
Treatment of acute neuroborreliosis requires a course of intravenous antibiotics, such as cefotaxime, penicillin or ceftriaxone. Additionally, patients can be started on acetazolamide to further decrease the elevated ICP. Patients typically have an excellent response to treatment and experience complete resolution of their symptoms. Given the high incidence of Lyme disease in children, it is essential to consider this differential diagnosis when evaluating bilateral optic disc swelling, particularly in endemic areas. Expedited and accurate diagnoses can facilitate appropriate treatment and improved outcomes.
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- For more information:
- Aubrey Tirpack, MD, and Catherine Choi, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Jessica Moon, MD, and Emily C. Wright, MD. They can be reached at the New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.