Common Variable Immunodeficiency with Granulomatous Panuveitis


Cutaneous nodules, granulomatous uveitis and oligoarthritis in child

History of Present Illness

A 5-year-old girl presented with a complaint of red eye and blurred vision left eye (OS) for the past 4 months. She had a history of pneumonia at 4 years of age, which required hospitalization. Shortly afterward she developed a swollen, painful right knee and left interphalangeal joint. For the past 6 months, erythematous, plaquelike, and scaly lesions were observed on her right hand ( Fig. 29.1 ), buttocks, and feet.

Exam
OD OS
Visual acuity 20/20 20/40
Intraocular pressure (IOP) (mm Hg) 12 10
Sclera/conjunctiva Within normal limits (WNL) No ciliary injection.
Cornea WNL Diffuse mutton fat keratic precipitate (KP) on the inferior half of corneal endothelium
Anterior chamber (AC) WNL 2+ flare, 2+ cell
Iris WNL One Koeppe nodule on the pupillary margin ( Fig. 29.2 )
Lens Clear Clear
Vitreous cavity WNL 2+ vitritis
Retina/optic nerve WNL Mild perivasculitis extending to the periphery

Fig. 29.1, Cutaneous erythematous, plaquelike, and scaly lesions on both hands.

Fig. 29.2, Koeppe nodule on pupillary margin.

Questions to Ask

  • When you had pneumonia, were you evaluated for an underlying systemic disease?

  • Have you had infections other than in your lungs?

  • Have you been examined by an eye doctor for anterior uveitis associated with oligoarthritis (i.e., juvenile idiopathic arthritis [JIA])?

  • Have you detected any swollen lymph nodes on your neck, upper chest, or groin?

During her hospitalization for pneumonia, the patient was noted to have hypogammaglobulinemia and reduced B lymphocytes in her blood. Additionally, previous vaccinations for tetanus and diphtheria were determined to be nonprotective. Since then, she has had recurrent episodes of otitis media that required treatment with systemic and topical antibiotics. An eye doctor examined her within the past 6 months and did not see intraocular inflammation in either eye. Her mother has noticed some swollen lymph nodes in the patient’s neck and groin.

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