Pigmented paravenous chorioretinal atrophy ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease
Author(s) :
Smirnov, Vasily [Auteur]
Université Lille Nord (France)
Ley, Delphine [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
Nelken, Brigitte [Auteur]
Université Lille Nord (France)
Petit, Florence [Auteur]
Université Lille Nord (France)
Defoort, Sabine [Auteur]
Université Lille Nord (France)
Université Lille Nord (France)
Ley, Delphine [Auteur]

Lille Inflammation Research International Center - U 995 [LIRIC]
Nelken, Brigitte [Auteur]
Université Lille Nord (France)
Petit, Florence [Auteur]
Université Lille Nord (France)
Defoort, Sabine [Auteur]

Université Lille Nord (France)
Journal title :
Ophthalmic Genetics
Abbreviated title :
Ophthalmic Genet.
Volume number :
40
Publication date :
2019-10-19
ISSN :
1744-5094
Keyword(s) :
Pigmented paravenous chorioretinal atrophy
pediatric retina
chronic granulomatous disease
pediatric retina
chronic granulomatous disease
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Background: Pigmented Paravenous Chorioretinal Atrophy (PPCRA) is a rare and predominantly sporadic form of chorioretinal atrophy. Ocular and systemic inflammation has been considered a possible etiology of PPCRA. In this ...
Show more >Background: Pigmented Paravenous Chorioretinal Atrophy (PPCRA) is a rare and predominantly sporadic form of chorioretinal atrophy. Ocular and systemic inflammation has been considered a possible etiology of PPCRA. In this report, we describe an unusual case of PPCRA in a child who was recently diagnosed with chronic granulomatous disease. Case description: A 4-year-old boy was referred for ophthalmic assessment after a seizure. Fundus examination revealed atrophic chorioretinal lesions typical of PPCRA. We had also referred this patient to a gastroenterologist for chronic abdominal pain and diarrhea. The patient was first diagnosed as a case of Crohn’s disease, but in the setting of mesenteric lymphadenopathy, a workup for immune dysfunction was performed. Nitro-blue tetrazolium test (NBT) was negative, suggesting a chronic granulomatous disease, which was finally confirmed by genetic testing. Conclusion: The presentation of PPCRA has been sporadic in the majority of cases. Inflammatory and hereditary origins have been anecdotally cited. Our young patient showed concurrent presentation of inflammatory and hereditary origin of PPCRA. We suggest that a careful investigation of systemic inflammation should be done in children with suggestive extraocular symptoms in the setting of PPCRA.Show less >
Show more >Background: Pigmented Paravenous Chorioretinal Atrophy (PPCRA) is a rare and predominantly sporadic form of chorioretinal atrophy. Ocular and systemic inflammation has been considered a possible etiology of PPCRA. In this report, we describe an unusual case of PPCRA in a child who was recently diagnosed with chronic granulomatous disease. Case description: A 4-year-old boy was referred for ophthalmic assessment after a seizure. Fundus examination revealed atrophic chorioretinal lesions typical of PPCRA. We had also referred this patient to a gastroenterologist for chronic abdominal pain and diarrhea. The patient was first diagnosed as a case of Crohn’s disease, but in the setting of mesenteric lymphadenopathy, a workup for immune dysfunction was performed. Nitro-blue tetrazolium test (NBT) was negative, suggesting a chronic granulomatous disease, which was finally confirmed by genetic testing. Conclusion: The presentation of PPCRA has been sporadic in the majority of cases. Inflammatory and hereditary origins have been anecdotally cited. Our young patient showed concurrent presentation of inflammatory and hereditary origin of PPCRA. We suggest that a careful investigation of systemic inflammation should be done in children with suggestive extraocular symptoms in the setting of PPCRA.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Submission date :
2021-09-02T07:02:07Z
2023-12-04T11:17:16Z
2023-12-04T11:22:00Z
2023-12-04T11:17:16Z
2023-12-04T11:22:00Z