Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Tuberous sclerosis complex in children

H P Monaghan, B R Krafchik, D L MacGregor

    American Journal of Diseases of Children (1960)
    |October 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Regional brain injury on conventional and diffusion weighted MRI is associated with outcome after pediatric cardiac arrest.

    Neurocritical care·2012
    Same author

    A double-blind, randomized, placebo-controlled trial of topical tacrolimus 0·1% vs. clobetasol propionate 0·05% in childhood vitiligo.

    The British journal of dermatology·2011
    Same author

    Acne.

    Paediatrics & child health·2010
    Same author

    Eczema.

    Paediatrics & child health·2010
    Same author

    Upper limb motor function in young adults with spina bifida and hydrocephalus.

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2009
    Same author

    Non-endoscopic removal of radiologically placed percutaneous primary gastrostomy tubes: a new technique.

    Pediatric radiology·2001
    Same journal

    Nonsteroidal anti-inflammatory drugs and gastrointestinal injury in children.

    American journal of diseases of children (1960)·1993
    Same journal

    Picture of the month. Cutaneous leishmaniasis.

    American journal of diseases of children (1960)·1993
    Same journal

    Pathological case of the month. Wells' syndrome.

    American journal of diseases of children (1960)·1993
    Same journal

    Radiological case of the month. Proteus syndrome: benign angiolipomatous tumor with intraspinal extension.

    American journal of diseases of children (1960)·1993
    Same journal

    Applicability of the Greulich and Pyle skeletal age standards to black and white children of today.

    American journal of diseases of children (1960)·1993
    Same journal

    Maltreatment of children born to cocaine-dependent mothers.

    American journal of diseases of children (1960)·1993
    See all related articles

    Tuberous sclerosis (TS) is more common than previously thought, with seizures and intellectual disability being frequent in affected children. Early diagnosis through skin manifestations and CT scans is crucial for genetic counseling.

    Area of Science:

    • Medical Genetics
    • Pediatric Neurology
    • Dermatology

    Background:

    • Tuberous sclerosis (TS) is a genetic disorder with variable clinical manifestations.
    • Early identification and management are essential for improving patient outcomes.

    Purpose of the Study:

    • To determine the prevalence and common clinical features of tuberous sclerosis in a pediatric cohort.
    • To highlight the diagnostic utility of computed tomography (CT) and early cutaneous signs.

    Main Methods:

    • Retrospective review of 62 children diagnosed with tuberous sclerosis at The Hospital for Sick Children, Toronto.
    • Clinical data collection including seizure history, intellectual development, and dermatological findings.
    • Assessment of the role of computed tomography (CT) in diagnosis.

    Related Experiment Videos

    Main Results:

    • Seizures occurred in 58 children (93.5%), with onset in the first year of life for 37 (64%).
    • Mental retardation was diagnosed in 51 children (82.3%).
    • Hypopigmented patches were present in 42 (67.7%) and adenoma sebaceum in 26 (41.9%).

    Conclusions:

    • Tuberous sclerosis (TS) is a prevalent condition with seizures and intellectual disability as common manifestations.
    • Congenital hypopigmented patches are early cutaneous signs, and CT is vital for diagnosis.
    • Family screening and genetic counseling are recommended upon TS diagnosis due to its wide spectrum of presentation.