Case Challenge — An 11-Year-Old Girl with Redness of the Eyes — NEJM

The case description for a Case Records of the Massachusetts General Hospital appears below. What is the diagnosis? What diagnostic test is most likely to be helpful? Cast your vote on the diagnosis and submit a comment about what diagnostic test is indicated. The correct diagnosis, along with the full description of the case and the procedures performed, will be published in the October 27, 2022, issue of the Journal.

An 11-year-old girl with latent tuberculosis infection was evaluated for eye redness of 8 weeks’ duration. Funduscopy had shown optic-disk edema, peripheral retinal hemorrhages, and perivascular exudates.

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Presentation of Case

 

Dr. Natalie A. Diacovo (Pediatrics): An 11-year-old girl was evaluated in the rheumatology clinic of this hospital because of redness of the eyes.

The patient had been well until 8 weeks before the current evaluation, when she noticed mild eye redness, which was worse in the right eye than in the left eye. There was intermittent swelling of the eyelids but no photophobia, itching, pain, tearing, or discharge. The patient’s parents administered naphazoline hydrochloride and glycerin eye drops, but the eye redness did not abate. When the eye redness had persisted for 2 weeks, the patient was taken to the pediatrics clinic of another hospital. She was given a 7-day course of an oral antibiotic agent as empirical treatment for possible preseptal cellulitis.

Five weeks before the current evaluation, the eye redness persisted despite treatment, and the patient was referred to the ophthalmology clinic of the other hospital. The blood pressure was not measured during this evaluation. The visual acuity with correction was 20/20 in the right eye and 20/25 in the left eye. The pupils were symmetric and reactive to light, with no relative afferent pupillary defect. Slit-lamp examination revealed abundant white cells in the anterior chamber of both eyes, with a greater amount in the right eye than in the left eye. There were also keratic precipitates, posterior synechiae, and rare iris nodules in the right eye. Funduscopic examination was notable for optic-disk swelling and peripheral retinal hemorrhages in both eyes, as well as perivascular exudates in the right eye. Cyclopentolate eye drops in the right eye and prednisolone eye drops in both eyes were prescribed.

Table 1. Laboratory Data. Figure 1. Initial Imaging Studies. Figure 1 Figure 1. Initial Imaging Studies. CT of the chest and abdomen was performed after the administration of intravenous contrast material. A coronal image of the chest (Panel A) shows mediastinal lymphadenopathy (arrow). An axial image of the abdomen (Panel B) shows retroperitoneal lymphadenopathy (arrow). MRI of the head was performed after the administration of intravenous contrast material. An axial T1-weighted fat-suppressed image of the orbits (Panel C) shows enhancement of the irises, with greater enhancement in the right globe (arrow) than in the left globe, a finding consistent with the clinical diagnosis of uveitis. Figure 2. Fundus Photographs. Figure 2 Figure 2. Fundus Photographs. Fundus photographs of the right eye and the left eye (Panels A and B, respectively) show perivascular exudates (arrows) and hemorrhages (arrowheads).

During the subsequent 3 weeks, additional tests were performed in the pediatrics clinic of the other hospital. Screening blood tests for human immunodeficiency virus (HIV) types 1 and 2, syphilis, and Lyme disease were negative. An interferon-γ release assay for M. tuberculosis was indeterminate. Other laboratory test results are shown in Table 1. Radiography of the chest revealed hilar fullness.

Dr. Maria G. Figueiro Longo: Computed tomography (CT) of the chest and abdomen (Figure 1A and 1B), performed after the administration of intravenous contrast material, showed a normal-appearing thymus. However, diffuse lymphadenopathy was detected in the mediastinum, upper abdomen, and axillae, with the largest lymph node measuring 2.0 cm by 1.3 cm by 1.8 cm.

Dr. Diacovo: Two weeks before the current evaluation, the patient was asked to present to the emergency department of the other hospital for an expedited workup. On evaluation, she described eye redness that had persisted but decreased in severity. She reported no fever, weight loss, night sweats, rash, headache, cough, shortness of breath, or joint pain. On examination, the temperature was 37.0°C, the blood pressure 96/61 mm Hg, the heart rate 95 beats per minute, the respiratory rate 20 breaths per minute, and the oxygen saturation 100% while she was breathing ambient air. The body-mass index (the weight in kilograms divided by the square of the height in meters) was 18.3.

The patient appeared well, with no oral lesions or rash. The visual acuity was unchanged. Slit-lamp examination revealed keratic precipitates and white cells in the anterior chamber of both eyes, with a greater amount in the right eye than in the left eye. There were extensive posterior synechiae in the right eye. Funduscopic examination (Figure 2) showed vitreous white cells, optic-disk swelling, perivascular exudates, peripheral retinal hemorrhages, and cotton-wool spots in both eyes. The lungs were clear on auscultation. Urinalysis was normal. Other laboratory test results are shown in Table 1. Methylprednisolone was administered, and the patient was admitted to the other hospital.

During the next 4 days, additional tests were performed, and sputum specimens were obtained for an acid-fast bacilli smear and culture. Optical coherence tomography revealed optic-disk swelling but no cystoid macular swelling. Fluorescein angiography revealed optic-disk leakage with areas of peripheral retinal nonperfusion and some vessel leakage.

Dr. Figueiro Longo: Magnetic resonance imaging (MRI) of the head (Figure 1C), performed before and after the administration of intravenous contrast material, showed protrusion and enhancement of the optic disks and enhancement of the irises, a finding consistent with the clinical diagnosis of uveitis. There was no evidence of optic neuritis or perineuritis.

Dr. Diacovo: The administration of cyclopentolate eye drops in the right eye and prednisolone eye drops in both eyes was continued. Treatment with oral prednisone was started, and a regimen of rifampin, isoniazid, ethambutol, and pyrazinamide was begun as empirical treatment for possible tuberculosis. On the fifth hospital day, the patient was discharged home. She was instructed to follow up in the ophthalmology clinic of the other hospital and was referred to the rheumatology clinic of this hospital.

In the rheumatology clinic, additional history was obtained. The patient had had normal growth and development and was currently in middle school. She had received all routine childhood vaccinations. She had emigrated from West Africa to the United States 6 years earlier; since then, she had lived with her mother and father in a suburban town in New England and had not traveled outside the region. Six months before this evaluation, an interferon-γ release assay for M. tuberculosis had been positive. At that time, the patient had received a prescription for a medication to treat latent tuberculosis infection; however, the patient’s parents could not recall giving the medication to the patient. She was taking the prescribed cyclopentolate and prednisolone eye drops, oral prednisone, and regimen of rifampin, isoniazid, ethambutol, and pyrazinamide. There were no known drug allergies. The patient’s parents were healthy.
 

Question

What is the diagnosis? Cast your vote. What diagnostic test is most likely to be helpful? Submit a comment about this case and about what diagnostic test is indicated.
 

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