Tuberous sclerosis complex: an opportunistic diagnosis
ABSTRACT Tuberous sclerosis complex (TSC) is a rare genetic multisystem disease that involves brain, skin, kidneys, eyes and lungs. It typically presents during childhood with facial adenomas, seizures and mental retardation and its diagnosis is mainly clinical. We report a case of 68-year-old man t...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Galega de Medicina Interna
2019-07-01
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| Series: | Galicia Clínica |
| Subjects: | |
| Online Access: | https://galiciaclinica.info/publicacion.asp?f=1702 |
| Summary: | ABSTRACT
Tuberous sclerosis complex (TSC) is a rare genetic multisystem disease that involves brain, skin, kidneys, eyes and lungs. It typically presents during childhood with facial adenomas, seizures and mental retardation and its diagnosis is mainly clinical. We report a case of 68-year-old man that sought medical care due to a transient ischemic stroke. The past clinical history and physical observation showed symptoms and signs of TSC. An extend imagiological study allowed for a complete assessment of organ involvement. A delayed diagnosis places adults at increased risk for morbidity and mortality and therefore, clinicians must be familiar with the full spectrum of TSC-associated diagnostic features. |
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| ISSN: | 0304-4866 1989-3922 |