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Case Reports in Neurological Medicine
Article . 2024 . Peer-reviewed
License: CC BY
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https://dx.doi.org/10.60692/6k...
Other literature type . 2024
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Other literature type . 2024
Data sources: Datacite
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Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

ورم نجمي عملاق في الشبكية: تقرير حالة عرض غير شائع للتصلب الدرني لدى شابة
Authors: Keval Thakkar; Fnu Raveena; Aakash Kumar; Doongro Mal; Anil Kumar Gupta; Neha Ahuja; Rahul Mandhan; +5 Authors

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

Abstract

Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes. Ocular signs are fairly common and include an achromic patch and retinal astrocytic hamartomas, which usually have a maximum size of between 0.5 and 5 mm. The incidence of tuberous sclerosis is estimated to be 1 in 5000−10,000 individuals, with both familial and sporadic cases reported. The diagnostic criteria for tuberous sclerosis include the presence of major and/or minor clinical features as well as genetic mutations. We present the case of a 15‐year‐old girl, presented with a history of seizures and blurred vision. Physical examination revealed angiofibroma on the face. Further evaluation, including contrast‐enhanced MRI of the brain and ophthalmological consultation, led to the diagnosis of tuberous sclerosis. Additional imaging studies confirmed the presence of subependymal giant cell astrocytoma, retinal astrocytoma, lymphangioleiomyomatosis in the lungs, and renal angiomyolipoma. This case highlights the importance of considering tuberous sclerosis in patients presenting with seizures and ocular symptoms. This case sheds light on early diagnosis and appropriate management which are crucial in preventing complications and improving patient outcomes.

Keywords

Physiology, Neurofibromatosis Type 1 and Type 2, Case Report, Dermatology, Presentation (obstetrics), Pediatrics, Biochemistry, Genetics and Molecular Biology, Health Sciences, Retinal, Pathology, RC346-429, Tuberous Sclerosis Complex and Related Disorders, Tuberous sclerosis, Life Sciences, Cell Biology, Regulation and Function of Microtubules in Cell Division, Ophthalmology, Neurology, FOS: Biological sciences, Tuberous Sclerosis Complex, Medicine, Surgery, Neurology. Diseases of the nervous system

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
Average
Average
Green
gold