Tuberous sclerosis complex

David T. Hsieh; Susan L. Whiteway; Luis O. Rohena; Elizabeth A. Thiele

doi:10.1212/CPJ.0000000000000260

Tuberous sclerosis complex

David T. Hsieh^*, Susan L. Whiteway, Luis O. Rohena, Elizabeth A. Thiele

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

7 Scopus citations

Abstract

Purpose of review: Tuberous sclerosis complex (TSC) is a variably expressed neurocutaneous genetic disorder characterized by hamartomatous growths in multiple organ systems. Neurologic involvement often confers the most severe symptoms, and can include epilepsy, increased intracranial pressure from hydrocephalus, intellectual deficits, and autism. The purpose of this review is to provide a neurologically focused update in the diagnosis and treatment of these complications in patients with TSC. Recent findings: We highlight 5 new areas of understanding in TSC: the neurobiology of TSC and its translation into clinical practice, vigabatrin in the treatment of infantile spasms, the role of tubers and epilepsy surgery, the treatment of subependymal giant cell astrocytomas, and TSC-related neuropsychiatric disorders. Summary: These recent advances in diagnosis and treatment give our patients with TSC and their families hope for the future for improved care and possible preventive cures, to the end goal of improving quality of life.

Original language	English
Pages (from-to)	339-347
Number of pages	9
Journal	Neurology: Clinical Practice
Volume	6
Issue number	4
DOIs	https://doi.org/10.1212/CPJ.0000000000000260
State	Published - 1 Aug 2016
Externally published	Yes

Access to Document

10.1212/CPJ.0000000000000260

Cite this

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title = "Tuberous sclerosis complex",

abstract = "Purpose of review: Tuberous sclerosis complex (TSC) is a variably expressed neurocutaneous genetic disorder characterized by hamartomatous growths in multiple organ systems. Neurologic involvement often confers the most severe symptoms, and can include epilepsy, increased intracranial pressure from hydrocephalus, intellectual deficits, and autism. The purpose of this review is to provide a neurologically focused update in the diagnosis and treatment of these complications in patients with TSC. Recent findings: We highlight 5 new areas of understanding in TSC: the neurobiology of TSC and its translation into clinical practice, vigabatrin in the treatment of infantile spasms, the role of tubers and epilepsy surgery, the treatment of subependymal giant cell astrocytomas, and TSC-related neuropsychiatric disorders. Summary: These recent advances in diagnosis and treatment give our patients with TSC and their families hope for the future for improved care and possible preventive cures, to the end goal of improving quality of life.",

author = "Hsieh, {David T.} and Whiteway, {Susan L.} and Rohena, {Luis O.} and Thiele, {Elizabeth A.}",

note = "Publisher Copyright: {\textcopyright} 2016 American Academy of Neurology.",

year = "2016",

month = aug,

day = "1",

doi = "10.1212/CPJ.0000000000000260",

language = "English",

volume = "6",

pages = "339--347",

journal = "Neurology: Clinical Practice",

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AU - Hsieh, David T.

AU - Whiteway, Susan L.

AU - Rohena, Luis O.

AU - Thiele, Elizabeth A.

PY - 2016/8/1

Y1 - 2016/8/1

N2 - Purpose of review: Tuberous sclerosis complex (TSC) is a variably expressed neurocutaneous genetic disorder characterized by hamartomatous growths in multiple organ systems. Neurologic involvement often confers the most severe symptoms, and can include epilepsy, increased intracranial pressure from hydrocephalus, intellectual deficits, and autism. The purpose of this review is to provide a neurologically focused update in the diagnosis and treatment of these complications in patients with TSC. Recent findings: We highlight 5 new areas of understanding in TSC: the neurobiology of TSC and its translation into clinical practice, vigabatrin in the treatment of infantile spasms, the role of tubers and epilepsy surgery, the treatment of subependymal giant cell astrocytomas, and TSC-related neuropsychiatric disorders. Summary: These recent advances in diagnosis and treatment give our patients with TSC and their families hope for the future for improved care and possible preventive cures, to the end goal of improving quality of life.

AB - Purpose of review: Tuberous sclerosis complex (TSC) is a variably expressed neurocutaneous genetic disorder characterized by hamartomatous growths in multiple organ systems. Neurologic involvement often confers the most severe symptoms, and can include epilepsy, increased intracranial pressure from hydrocephalus, intellectual deficits, and autism. The purpose of this review is to provide a neurologically focused update in the diagnosis and treatment of these complications in patients with TSC. Recent findings: We highlight 5 new areas of understanding in TSC: the neurobiology of TSC and its translation into clinical practice, vigabatrin in the treatment of infantile spasms, the role of tubers and epilepsy surgery, the treatment of subependymal giant cell astrocytomas, and TSC-related neuropsychiatric disorders. Summary: These recent advances in diagnosis and treatment give our patients with TSC and their families hope for the future for improved care and possible preventive cures, to the end goal of improving quality of life.

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