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Sanfilippo type C syndrome in two sisters.

P Uvebrant

    Acta Paediatrica Scandinavica
    |January 1, 1985
    PubMed
    Summary

    Mucopolysaccharidosis (MPS) Sanfilippo type C syndrome is often missed due to subtle signs. Consider this rare genetic disorder in children with unexplained developmental delays and behavioral issues like aggression and sleep problems.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Neurology

    Background:

    • Mucopolysaccharidosis (MPS) Sanfilippo syndrome is a group of rare genetic disorders.
    • Sanfilippo syndrome type C is characterized by progressive neurodegeneration.
    • Early diagnosis is crucial for potential management strategies.

    Observation:

    • The study describes two sisters diagnosed with Sanfilippo type C syndrome.
    • Clinical and radiological findings can be subtle, making diagnosis challenging.
    • Key symptoms include progressive mental retardation, sleep disturbances, aggression, and hyperactivity.

    Findings:

    • The diagnosis of Sanfilippo type C syndrome can be easily overlooked.
    • Subtle clinical and radiological deviations may mask the underlying genetic condition.
    • The presence of unspecific progressive mental retardation coupled with behavioral symptoms is a strong indicator.

    Implications:

    • Early consideration of Sanfilippo type C syndrome is crucial for timely intervention.
    • Increased awareness among clinicians can improve diagnostic rates for this rare MPS subtype.
    • Understanding the subtle presentation aids in identifying affected individuals for genetic counseling and management.

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