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Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia

INTRODUCTION AND IMPORTANCE: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations in TSC1 or TSC2 genes, resulting in benign lesions that involve multiple organs including the central nerves system. CASE PRESENTATION: A 39-year-old male of known TSC pre...

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Autor principal: Esmat, Habib Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289415/
https://www.ncbi.nlm.nih.gov/pubmed/35860060
http://dx.doi.org/10.1016/j.amsu.2022.104024
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author Esmat, Habib Ahmad
author_facet Esmat, Habib Ahmad
author_sort Esmat, Habib Ahmad
collection PubMed
description INTRODUCTION AND IMPORTANCE: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations in TSC1 or TSC2 genes, resulting in benign lesions that involve multiple organs including the central nerves system. CASE PRESENTATION: A 39-year-old male of known TSC presented with inability to walk for two months. On physical examination, he was consciously oriented and cooperative, but he had spastic tetraparesis in the muscle-motor examination. On brain imaging, cystic lesions of various sizes in the supra and infratentorial regions were observed, consistent with giant cyst-like tubers. However, they could not differentiate from TSC related brain tumors based on the imaging findings. He underwent surgical intervention to resect/evacuate the large cystic lesion, which had the mass effects on the brain stem. The pathologic examinations revealed no malignant changes. CLINICAL DISCUSSION: Although the cyst-like lesions in the cortex and white matter have been reported in several previous studies of TSC, they usually had a small size and similar intensity to CSF on T2- weighted MRI and low intensity on FLAIR images. CONCLUSION: Giant cyst-like cortical tubers are exceedingly rare and atypical findings of tuberous sclerosis complex, which are usually associated with epilepsy and neurological deficits. Though many authors recommend the brain MRI as a screening tool for patients with TSC once every 1–3 years until the age of 25, our report showed that the brain lesions may develop in patients with TSC even after the age of 25. Thus, the MRI should be used periodically in all patients with TSC to timely detect the brain lesions and prevent the patient's disability. Surgical resection is the mainstay of treatment for the symptomatic cystic-like cortical tuber; however, it may recur after resection.
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spelling pubmed-92894152022-07-19 Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia Esmat, Habib Ahmad Ann Med Surg (Lond) Case Report INTRODUCTION AND IMPORTANCE: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations in TSC1 or TSC2 genes, resulting in benign lesions that involve multiple organs including the central nerves system. CASE PRESENTATION: A 39-year-old male of known TSC presented with inability to walk for two months. On physical examination, he was consciously oriented and cooperative, but he had spastic tetraparesis in the muscle-motor examination. On brain imaging, cystic lesions of various sizes in the supra and infratentorial regions were observed, consistent with giant cyst-like tubers. However, they could not differentiate from TSC related brain tumors based on the imaging findings. He underwent surgical intervention to resect/evacuate the large cystic lesion, which had the mass effects on the brain stem. The pathologic examinations revealed no malignant changes. CLINICAL DISCUSSION: Although the cyst-like lesions in the cortex and white matter have been reported in several previous studies of TSC, they usually had a small size and similar intensity to CSF on T2- weighted MRI and low intensity on FLAIR images. CONCLUSION: Giant cyst-like cortical tubers are exceedingly rare and atypical findings of tuberous sclerosis complex, which are usually associated with epilepsy and neurological deficits. Though many authors recommend the brain MRI as a screening tool for patients with TSC once every 1–3 years until the age of 25, our report showed that the brain lesions may develop in patients with TSC even after the age of 25. Thus, the MRI should be used periodically in all patients with TSC to timely detect the brain lesions and prevent the patient's disability. Surgical resection is the mainstay of treatment for the symptomatic cystic-like cortical tuber; however, it may recur after resection. Elsevier 2022-06-22 /pmc/articles/PMC9289415/ /pubmed/35860060 http://dx.doi.org/10.1016/j.amsu.2022.104024 Text en © 2022 The Author https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Esmat, Habib Ahmad
Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia
title Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia
title_full Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia
title_fullStr Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia
title_full_unstemmed Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia
title_short Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia
title_sort giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289415/
https://www.ncbi.nlm.nih.gov/pubmed/35860060
http://dx.doi.org/10.1016/j.amsu.2022.104024
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