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The Value of Imagistics in Early Diagnosis of Tuberous Sclerosis
Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085840/ https://www.ncbi.nlm.nih.gov/pubmed/32231836 http://dx.doi.org/10.1155/2020/1309184 |
Sumario: | Tuberous sclerosis complex is a multisystemic genetic disorder with high phenotypical variability. Its progress frequently brings along autism (61%), epilepsy, intellectual disability (45%), and neurocognitive impairment (Gipson and Johnston, 2017). We are considering the case of an infant suspected with tuberous sclerosis complex by imagistic investigation in the prenatal period. The pre- and postnatal ultrasound, fetal MRI, ophthalmoscopy, and dermatological and neurological examinations were used for diagnosis and follow-up. The seven major and minor criteria were regarded as sufficient for accurate diagnosis. |
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