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Tuberous sclerosis (Diagnosis (History (PMH
Growth and development
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Tuberous sclerosis
Diagnosis
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Investigations
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Bloods
FBC, U+E, LFT
Genetic tests (NF1/2, TS)
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History
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POH
Scans, bloods, growth, gestation,
delivery, weight, complications
PC/HPC
Developmental delay, low IQ
Skin lesions
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SH
Living arrangements, nursery/school
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Complications
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Neurological
Developmental delay
Epilepsy
Subependymal nodules, cortical tubers,
astrocytomas, hydrocephalus
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Clinical
presentation
Skin lesions
Ash leaf patches (depigmented patches)
Shagreen patches (rough patches over lumbar spine)
Angiofibromata (fine lumps over bridge of nose and cheeks)
Fibromata (subungual)
Neurological features
Developmental delay
Intellectual disability, autism
Seizures
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Management
Conservative
Information, advice, support
MDT management (neurologist, nurse, SALT)
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