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Tuberous sclerosis in Infant/Neonate
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Tuberous sclerosis in Infant/Neonate

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Contributors: Christine S. Ahn MD, FAAD, William W. Huang MD, MPH, FAAD, Craig N. Burkhart MD, Dean Morrell MD, Susan Burgin MD
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Synopsis

Tuberous sclerosis (TS), or tuberous sclerosis complex (TSC), also known as Bourneville disease, is an autosomal dominant, multisystem disorder caused by mutations in the genes for the proteins hamartin and tuberin. It is characterized by tumor-like growths, or hamartomas, in almost every organ. Two-thirds of infants with TS/TSC are born to unaffected parents as a result of a sporadic mutation. During the neonate period and infancy, the most common presenting signs are seizures or cardiac rhabdomyomas, typically found on routine antenatal screening.

A majority of TSC patients will have epilepsy, and more than half will have developmental delays collectively termed TSC-associated neuropsychiatric disorders (TAND). Brain lesions including glioneuronal hamartomas and periventricular giant cell astrocytomas are commonly identified in patients with TAND.

Establishing the diagnosis of TS can be challenging due to the wide variation in severity and age-related penetrance of clinical manifestations. In some cases, diagnosis may be delayed until adolescence or adulthood.

For more information on tuberous sclerosis 1, see OMIM.

For more information on tuberous sclerosis 2, see OMIM.

Codes

ICD10CM:
Q85.1 – Tuberous sclerosis

SNOMEDCT:
7199000 – Tuberous sclerosis

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Last Reviewed: 11/08/2018
Last Updated: 11/08/2018
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Tuberous sclerosis in Infant/Neonate
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Tuberous sclerosis (Dermatologic) : Seizures, Ash leaf macules, Face, Shagreen patch sign, Trunk, Developmental delay, Cheeks
Clinical image of Tuberous sclerosis
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