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Cyclic vomiting syndrome plus.

Richard G Boles1, Amy L R Powers, Kathleen Adams

  • 1Division of Medical Genetics, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA. rboles@chla.usc.edu

Journal of Child Neurology
|August 12, 2006
PubMed
Summary
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Cyclic vomiting syndrome with neuromuscular disease (CVS plus) presents a distinct phenotype. It shows earlier onset and increased comorbidities, possibly linked to mitochondrial dysfunction.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Cyclic vomiting syndrome (CVS) is a disabling childhood condition with episodes of nausea and vomiting.
  • A subset of CVS patients (25%) exhibit coexisting neuromuscular disease, termed CVS plus.
  • The distinctiveness of CVS plus within the broader CVS spectrum requires investigation.

Purpose of the Study:

  • To determine if CVS patients with neuromuscular disease (CVS plus) represent a distinct subentity.
  • To compare clinical characteristics between CVS plus and CVS without neuromuscular disease (CVS minus).

Main Methods:

  • A clinical interview was conducted with 80 CVS sufferers from a disease association database.
  • Subjects were categorized into CVS plus (≥2 neuromuscular manifestations) and CVS minus (0 manifestations).

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  • Neuromuscular disease manifestations were assessed, including cognitive, skeletal, cranial nerve, and seizure disorders.
  • Main Results:

    • Neuromuscular disease manifestations clustered together in subjects.
    • CVS plus patients had an earlier age of onset for vomiting episodes.
    • CVS plus showed a 3-8 fold increased prevalence of dysautonomia and constitutional disorders, but similar sibling recurrence of neuromuscular disease.

    Conclusions:

    • CVS plus represents a distinct phenotypic entity, not necessarily genetically distinct from CVS minus.
    • CVS plus predicts earlier disease onset and increased comorbidity with specific medical conditions.
    • Mitochondrial dysfunction may underlie the distinct phenotype observed in CVS plus.