Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report
ABSTRACT This case report documents the experience of a 5‐year‐old girl who showed signs of retinal degeneration as the initial symptom of neuronal ceroid lipofuscinosis (NCLs). She originally presented with visual failure, which rapidly progressed to near total bilateral blindness. Two years later,...
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| Format: | Article |
| Language: | English |
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Wiley
2024-11-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.9566 |
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| author | Seyedeh Maryam Hosseini Reza Nejad Shahrokh Abadi Meisam Babaei Fatemeh Eghbal Narges Hashemi |
| author_facet | Seyedeh Maryam Hosseini Reza Nejad Shahrokh Abadi Meisam Babaei Fatemeh Eghbal Narges Hashemi |
| author_sort | Seyedeh Maryam Hosseini |
| collection | DOAJ |
| description | ABSTRACT This case report documents the experience of a 5‐year‐old girl who showed signs of retinal degeneration as the initial symptom of neuronal ceroid lipofuscinosis (NCLs). She originally presented with visual failure, which rapidly progressed to near total bilateral blindness. Two years later, she developed seizures and cognitive impairment, leading to a diagnosis of NCL7 resulting from a homozygote mutation in the MFSD8 gene. This case underscores the importance of considering NCLs as a potential diagnosis in cases of cone‐rod dystrophy and visual loss as the primary clinical feature. It also emphasizes the early onset and initial presentation of retinal degeneration associated with NCL7, before other signs and symptoms manifest, as the second documented case of its kind. Due to the potential for NCL7 to present initially with visual loss before other hallmark signs, it is crucial to consider it among various syndromic and non‐syndromic disorders in the differential diagnosis. |
| format | Article |
| id | doaj-art-96fb80cddf4147ccb142717e2ea14ebb |
| institution | OA Journals |
| issn | 2050-0904 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-96fb80cddf4147ccb142717e2ea14ebb2025-08-20T02:23:34ZengWileyClinical Case Reports2050-09042024-11-011211n/an/a10.1002/ccr3.9566Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case ReportSeyedeh Maryam Hosseini0Reza Nejad Shahrokh Abadi1Meisam Babaei2Fatemeh Eghbal3Narges Hashemi4Eye Research Center Mashhad University of Medical Sciences Mashhad IranFaculty of Medicine Mashhad University of Medical Sciences Mashhad IranDepartment of Pediatrics North Khorasan University of Medical Sciences Bojnurd IranNext Generation Genetic Polyclinic Mashhad IranDepartment of Pediatrics School of Medicine Mashhad University of Medical Sciences Mashhad IranABSTRACT This case report documents the experience of a 5‐year‐old girl who showed signs of retinal degeneration as the initial symptom of neuronal ceroid lipofuscinosis (NCLs). She originally presented with visual failure, which rapidly progressed to near total bilateral blindness. Two years later, she developed seizures and cognitive impairment, leading to a diagnosis of NCL7 resulting from a homozygote mutation in the MFSD8 gene. This case underscores the importance of considering NCLs as a potential diagnosis in cases of cone‐rod dystrophy and visual loss as the primary clinical feature. It also emphasizes the early onset and initial presentation of retinal degeneration associated with NCL7, before other signs and symptoms manifest, as the second documented case of its kind. Due to the potential for NCL7 to present initially with visual loss before other hallmark signs, it is crucial to consider it among various syndromic and non‐syndromic disorders in the differential diagnosis.https://doi.org/10.1002/ccr3.9566cone‐rod dystrophyNCLneurodegenerationpediatric ophthalmologyretinal degeneration |
| spellingShingle | Seyedeh Maryam Hosseini Reza Nejad Shahrokh Abadi Meisam Babaei Fatemeh Eghbal Narges Hashemi Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report Clinical Case Reports cone‐rod dystrophy NCL neurodegeneration pediatric ophthalmology retinal degeneration |
| title | Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report |
| title_full | Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report |
| title_fullStr | Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report |
| title_full_unstemmed | Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report |
| title_short | Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report |
| title_sort | cone rod dystrophy and progressive visual loss as the first manifestation of neuronal ceroid lipofuscinosis type 7 a case report |
| topic | cone‐rod dystrophy NCL neurodegeneration pediatric ophthalmology retinal degeneration |
| url | https://doi.org/10.1002/ccr3.9566 |
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