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CBL syndrome presenting with severe EBV infection and panuveitis masquerade
Stéphane Abramowicz1, Inès Chabbi1, Christine Fardeau1
1Department of Ophthalmology, IHU FOReSIGHT, Hôpital Universitaire Pitié-Salpêtrière, Sorbonne Université, Paris, France.
Insights
CBL syndrome can manifest with severe Epstein-Barr virus (EBV) infection and rod-cone dystrophy (RCD) mimicking panuveitis. Early use of carbonic anhydrase inhibitors is recommended for cystoid macular edema in these patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- CBL syndrome is a rare genetic disorder.
- Severe Epstein-Barr virus (EBV) infection can be a presenting feature.
- Rod-cone dystrophy (RCD) can mimic other ocular inflammatory conditions.
Purpose of the Study:
- To report a case of CBL syndrome with severe EBV infection and RCD.
- To highlight RCD masquerading as panuveitis in CBL syndrome.
- To discuss management strategies for ocular complications.
Main Methods:
- Case report.
- Whole-exome sequencing (WES) in the patient and parents.
- Clinical and genetic analysis.
Main Results:
- A 35-month-old boy with CBL syndrome experienced severe EBV infection, encephalitis, and hemophagocytic lymphohistiocytosis.
- At age 6, he developed bilateral panuveitis with refractory cystoid macular edema (CME), later diagnosed as RCD.
- Genetic testing identified a pathogenic variant in the CBL gene.
Conclusions:
- CBL syndrome can present with severe EBV infection in early childhood.
- RCD can be an ocular manifestation of CBL syndrome, presenting as panuveitis.
- Carbonic anhydrase inhibitors (CAI) may be beneficial for CME in CBL syndrome patients.
Purpose:
To describe a case of CBL syndrome presenting with life-threatening pediatric Epstein-Barr virus (EBV) infection and sight-threatening rod-cone dystrophy (RCD) masquerading as severe panuveitis.
Methods:
Single case report with results of whole-exome sequencing (WES) analysis in the proband and his parents. Data were collected from July 2009 to December 2022.
Results:
A 35-month-old boy presented with severe primary EBV infection complicated by encephalitis and hemophagocytic lymphohistiocytosis. The clinical picture abated with systemic corticosteroids. Genetic testing revealed a heterozygous germline pathogenic variant in the CBL gene c.1141T > G (p.Cys381Gly). At 6 years old, he developed a severe bilateral panuveitis requiring multiple lines of immunosuppressants, mostly to control refractory cystoid macular edema (CME). During follow-up, intraretinal pigment deposits and peripheral retinal atrophy started to appear. Full-field electroretinogram (ffERG) revealed a pattern consistent with RCD. Repeat WES targeting known inherited retinal disease (IRD) genes was negative. A diagnosis of CBL syndrome complicated by RCD masquerading as severe bilateral panuveitis was made, and CME treatment was switched to oral acetazolamide.
Conclusions:
CBL syndrome can present with severe EBV infection early in life. RCD masquerading as severe panuveitis is also a possible feature of CBL syndrome. RCD should be kept in mind in patients with this syndrome who present with idiopathic intraocular inflammation and are refractory to IMT. Carbonic anhydrase inhibitors (CAI) should be tried early to treat CME.
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