TUBEROUS SCLEROSIS COMPLEX
Introduction: tuberous sclerosis complex (TSC) is a neurocutaneous syndrome autosomal dominant (AD), characterized by multiple hamartomas formation due to mutation of the TSC1 and TSC2 genes responsible for encoding tumor suppressor proteins. TSC is a multisystem disease; however, the diagnosis is b...
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| Format: | Article |
| Language: | Spanish |
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Universidad de Cartagena
2015-12-01
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| Series: | Revista Ciencias Biomédicas |
| Subjects: | |
| Online Access: | http://revistas.unicartagena.edu.co/index.php/cienciasbiomedicas/article/view/1305/1215 |
| Summary: | Introduction: tuberous sclerosis complex (TSC) is a neurocutaneous syndrome autosomal dominant (AD), characterized by multiple hamartomas formation due to mutation of the TSC1 and TSC2 genes responsible for encoding tumor suppressor proteins. TSC is a multisystem disease; however, the diagnosis is based on the neurological involvement, skin lesions and imaging findings.
Clinical case: a male teenager from Cartagena who at four months of age was diagnosed with West syndrome, managed with Vigabatrin, subsequently, he presented focal motor epilepsy. Macules and facial angiofibromas were found in physical examination. Cranial tomography scan (TAC) showed left frontotemporal region tuber and subependymal nodules. Based on these criteria TSC diagnosis was carried out.
Conclusion: the TSC is a diagnostic challenge for the physician, it depends on excellent medical history and a complete physical examination even the search of characteristic lesions in the skin, they can be detected from the time of birth, just as detectable imaging findings even in uterus. Genetic tests do not rule the disease, although, they are confirmatory. Rev.cienc.biomed. 2015;6(2):369-375
KEYWORDS
Epilepsy; Tuberous sclerosis; Tuberous; Skin lesions.
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| ISSN: | 2215-7840 2215-7840 |