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Related Experiment Videos

Rett syndrome: a case report from an audiovisual program.

V A Holm

    Brain & Development
    |January 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    This case report details a young girl with Rett syndrome, highlighting early growth deceleration, hypotonia, and respiratory alkalosis. These symptoms, along with precocious puberty, offer new insights into Rett syndrome

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    Scoliosis in the Rett syndrome.

    Brain & development·1990

    Area of Science:

    • Neurology
    • Genetics
    • Pediatrics

    Background:

    • Rett syndrome is a rare neurodevelopmental disorder primarily affecting girls.
    • Characterized by typical regression, microcephaly, and motor deficits.
    • Early identification and understanding of its varied presentations are crucial.

    Observation:

    • A case report details a 13-year-old girl with Rett syndrome, utilizing home movies from 2 months of age.
    • The patient exhibited deceleration of head growth, infantile growth fall-off, early hypotonia, precocious puberty, and respiratory alkalosis.
    • A second 35-month-old patient presented with similar clinical features, excluding precocious puberty.

    Findings:

    • The study emphasizes symptoms not previously highlighted in Rett syndrome literature.

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  • Deceleration of head growth, rather than acquired microcephaly, is noted.
  • Early hypotonia, precocious puberty, and respiratory alkalosis are significant findings.

    • Implications:

    • This report expands the understanding of Rett syndrome's clinical spectrum.
    • It suggests that certain symptoms may be more common than previously recognized.
    • Further research is warranted to explore the genetic and clinical underpinnings of these varied presentations.