The case description for a Massachusetts General Hospital case record appears below. What is the diagnosis? Which diagnostic test is most likely to be helpful? Vote on the diagnosis and submit a comment on which 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. Log.

An 11-year-old girl with latent tuberculosis infection was evaluated for ocular redness lasting for 8 weeks. Funduscopic examination showed optic disc edema, peripheral retinal hemorrhages and perivascular exudates.

Take the survey and share your comments.

Presentation of the case

Dr. Natalie A. Diacovo (Pediatrics): An 11-year-old girl was evaluated at the rheumatology clinic at this hospital for eye redness.

The patient was doing well until 8 weeks prior to the current evaluation, when she noticed mild ocular redness, which was worse in the right eye than the left eye. There was intermittent eyelid swelling 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 subside. When the eye redness persisted for 2 weeks, the patient was taken to the pediatric clinic of another hospital. She received a 7-day course of an oral antibiotic agent as empirical treatment for possible preseptal cellulitis.

Five weeks prior to the current evaluation, the eye redness persisted despite treatment and the patient was referred to the other hospital’s ophthalmology clinic. Blood pressure was not measured during this assessment. Corrected visual acuity was 20/20 in the right eye and 20/25 in the left eye. The pupils were symmetrical and reactive to light, with no relative afferent pupillary defect. Slit lamp examination revealed an abundance of white blood 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 revealed optic disc swelling and peripheral retinal hemorrhages in both eyes, and 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 thorax and abdomen was performed after administration of intravenous contrast product. A coronal image of the thorax (Panel A) shows mediastinal lymphadenopathy (arrow). An axial image of the abdomen (Panel B) shows retroperitoneal lymphadenopathy (arrow). An MRI of the head was performed after the administration of intravenous contrast product. An axial T1-weighted image of the orbits with fat suppression (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 and left eyes (panels A and B, respectively) show perivascular exudates (arrows) and hemorrhages (arrowheads).

Over the next 3 weeks, additional tests were carried out in the pediatric clinic at the other hospital. Blood tests for human immunodeficiency virus (HIV) types 1 and 2, syphilis and Lyme disease were negative. An interferon-γ release test for Mr. tuberculosis was undetermined. Other laboratory test results are presented in Table 1. The chest X-ray revealed hilar fullness.

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

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

The patient appeared healthy, with no oral lesions or rash. Visual acuity was unchanged. Slit lamp examination revealed keratic precipitates and white blood 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 white blood cells in the vitreous, optic disc swelling, perivascular exudates, peripheral retinal hemorrhages, and cottony spots in both eyes. The lungs were clear on auscultation. Urinalysis was normal. Other laboratory test results are presented in Table 1. Methylprednisolone was administered and the patient was admitted to the other hospital.

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

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

Dr. Diacovo: Administration of cyclopentolate drops to the right eye and prednisolone drops to both eyes was continued. Treatment with oral prednisone was started and a regimen of rifampicin, isoniazid, ethambutol, and pyrazinamide was started as empiric therapy for possible tuberculosis. On the fifth day of hospitalization, the patient is sent home. She was instructed to follow up at the eye clinic at the other hospital and was referred to the rheumatology clinic at that hospital.

At the rheumatology clinic, additional history was obtained. The patient had had normal growth and development and was currently in college. 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 New England town and had not traveled outside the area. Six months before this evaluation, an interferon-γ release test for Mr. tuberculosis had been positive. At that time, the patient had received a prescription for a drug intended to treat a latent tuberculosis infection; however, the patient’s parents did not recall giving the patient the drug. She was taking the prescribed cyclopentolate and prednisolone eye drops, oral prednisone, and a regimen of rifampin, isoniazid, ethambutol, and pyrazinamide. There were no known drug allergies. The patient’s parents were in good health.

Question


What is the diagnosis? Vote. Which diagnostic test is most likely to be helpful? Submit a comment on this case and on the diagnostic test indicated.