Novel Variants in JAM3 Gene- a Rare Cause of Early Onset CNS Hemorrhage - First Case Report from India with Review of Literature

This study provides a systematic review of optic neuritis and neuroretinitis associated with cat scratch disease (CSD) caused by Bartonella henselae. CSD, commonly transmitted through cat scratches or bites, can lead to visual complications, particularly in children, who are more frequently exposed to cats. A comprehensive literature search identified 10 relevant studies from an initial pool of 521 articles. Typical CSD manifests with regional lymphadenopathy, but severe complications like hepatosplenomegaly and encephalitis can occur, especially in younger patients. Atypical presentations, such as neuroretinitis, often begin as optic neuritis with papillary edema, progressing to a macular star pattern. Pediatric patients may present with unilateral visual acuity loss, a symptom that can be easily overlooked. Diagnosis is supported by fundoscopy, altered visual evoked potentials (VEP), and optical coherence tomography (OCT), which detects subretinal fluid. Serological testing for B. henselae antibodies (IgG titers >1:256) confirms the infection. Treatment with rifampicin and doxycycline for 4-6 weeks, along with corticosteroids, has been effective in improving visual outcomes, providing hope and reassurance to the reader. In conclusion, CSD should be considered a key differential diagnosis in cases of unilateral vision loss, particularly in children with a history of cat exposure. Early recognition and treatment are essential for preserving vision and preventing long-term complications.

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Publication Details

Journal
Journal of Pediatric Neurology
Published
2026-01-29
DOI
https://doi.org/10.53391/1875-9041.1025
Primary Topic
Bartonella species infections research
Type
article
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article

Novel Variants in JAM3 Gene- a Rare Cause of Early Onset CNS Hemorrhage - First Case Report from India with Review of Literature

Pavan P. Shah, Nidhi Shah, Ashka Prajapati, Manaswini Manaswini
Journal of Pediatric Neurology
Bartonella species infections research
article

Novel Variants in JAM3 Gene- a Rare Cause of Early Onset CNS Hemorrhage - First Case Report from India with Review of Literature

Pavan P. Shah, Nidhi Shah, Ashka Prajapati, Manaswini Manaswini
article en

Abstract

This study provides a systematic review of optic neuritis and neuroretinitis associated with cat scratch disease (CSD) caused by Bartonella henselae. CSD, commonly transmitted through cat scratches or bites, can lead to visual complications, particularly in children, who are more frequently exposed to cats. A comprehensive literature search identified 10 relevant studies from an initial pool of 521 articles. Typical CSD manifests with regional lymphadenopathy, but severe complications like hepatosplenomegaly and encephalitis can occur, especially in younger patients. Atypical presentations, such as neuroretinitis, often begin as optic neuritis with papillary edema, progressing to a macular star pattern. Pediatric patients may present with unilateral visual acuity loss, a symptom that can be easily overlooked. Diagnosis is supported by fundoscopy, altered visual evoked potentials (VEP), and optical coherence tomography (OCT), which detects subretinal fluid. Serological testing for B. henselae antibodies (IgG titers >1:256) confirms the infection. Treatment with rifampicin and doxycycline for 4-6 weeks, along with corticosteroids, has been effective in improving visual outcomes, providing hope and reassurance to the reader. In conclusion, CSD should be considered a key differential diagnosis in cases of unilateral vision loss, particularly in children with a history of cat exposure. Early recognition and treatment are essential for preserving vision and preventing long-term complications.

Journal of Pediatric NeurologyVol. 23(6)
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Bartonella species infections research
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