Publication
Esclerose tuberosa : um caso típico de uma doença rara
| Summary: | Tuberous sclerosis complex is a rare autosomal dominant disorder that has different grades of severity.1 It is most commonly presented with epilepsy. Skin and kidneys are also frequently affected. Rhabdomyomas are the most common cardiac presentation and pulmonary involvement is rare. Diagnosis is made based on clinical criteria. This article presents the clinical case of an 8 year-old girl, without relevant clinical precedents, who has her first seizure at 15 months. At clinical observation she also presents hypopigmented skin lesions. Ophthalmologic, renal and cardiac involvement is detected in the following evaluations and brain magnetic resonance reveals cortical, subcortical and periependymal tubers, as well as small tubers in the area near foramina of Monro. She is submitted to genetic tests and it is identified a TSC2 de novo mutation.This clinical case is presented because it is a typical case of a rare disease, with multiple organ involvement. A literature review is performed and new therapeutic approaches are brought into discussion. |
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| Main Authors: | Ramalho, Sara Isabel Almeida |
| Subject: | Esclerose tuberosa Epilepsia TSC2 Angiofibromas faciais Angiomiolipomas |
| Year: | 2014 |
| Country: | Portugal |
| Document type: | master thesis |
| Access type: | restricted access |
| Associated institution: | Universidade de Lisboa |
| Language: | Portuguese |
| Origin: | Repositório da Universidade de Lisboa |
| Summary: | Tuberous sclerosis complex is a rare autosomal dominant disorder that has different grades of severity.1 It is most commonly presented with epilepsy. Skin and kidneys are also frequently affected. Rhabdomyomas are the most common cardiac presentation and pulmonary involvement is rare. Diagnosis is made based on clinical criteria. This article presents the clinical case of an 8 year-old girl, without relevant clinical precedents, who has her first seizure at 15 months. At clinical observation she also presents hypopigmented skin lesions. Ophthalmologic, renal and cardiac involvement is detected in the following evaluations and brain magnetic resonance reveals cortical, subcortical and periependymal tubers, as well as small tubers in the area near foramina of Monro. She is submitted to genetic tests and it is identified a TSC2 de novo mutation.This clinical case is presented because it is a typical case of a rare disease, with multiple organ involvement. A literature review is performed and new therapeutic approaches are brought into discussion. |
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