Pigmented paravenous chorioretinal atrophy ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease
Auteur(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)
Titre de la revue :
Ophthalmic Genetics
Nom court de la revue :
Ophthalmic Genet.
Numéro :
40
Date de publication :
2019-10-19
ISSN :
1744-5094
Mot(s)-clé(s) :
Pigmented paravenous chorioretinal atrophy
pediatric retina
chronic granulomatous disease
pediatric retina
chronic granulomatous disease
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [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 ...
Lire la suite >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.Lire moins >
Lire la suite >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.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Date de dépôt :
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