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Related Experiment Videos

Marshall-Smith syndrome: new aspects.

A M Roodhooft1, K J Van Acker, M N Van Thienen

  • 1Department of Pediatrics, University Hospital, University of Antwerp, Belgium.

Neuropediatrics
|November 1, 1988
PubMed
Summary

Marshall-Smith syndrome (MSS) in a child presented with hypotonia and muscle weakness. Muscle biopsy revealed selective fiber hypoplasia, alongside novel findings of growth hormone deficiency and small bowel issues.

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Area of Science:

  • Pediatric genetics and rare diseases
  • Neuromuscular disorders
  • Metabolic investigations

Background:

  • Marshall-Smith syndrome (MSS) is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and developmental delay.
  • Hypotonia and muscular weakness are common presenting symptoms in infants and children with MSS, necessitating diagnostic investigation.

Observation:

  • A 4-year-old girl diagnosed with Marshall-Smith syndrome presented with significant hypotonia and generalized muscular weakness.
  • Diagnostic workup included a muscle biopsy to evaluate the underlying cause of muscle impairment.

Findings:

  • Muscle biopsy demonstrated selective hypoplasia of type IIa and IIb muscle fibers, indicating a specific pattern of muscle involvement.
  • Additional previously unreported findings in this patient included partial growth hormone deficiency, partial villous atrophy of the small bowel, and pronounced dicarboxylic aciduria.

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Implications:

  • The newly identified co-occurring conditions (growth hormone deficiency, small bowel villous atrophy, dicarboxylic aciduria) expand the phenotypic spectrum of Marshall-Smith syndrome.
  • Further research and investigation in additional MSS patients are required to determine the significance and potential causal links of these novel findings within the syndrome's pathophysiology.