Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

R.J. van der Pol, M. Benninga, J. Magre, L. van Maldergem, J. Rotteveel, M.S. van der Knaap, T.G.J. de Meij

    Research output: Contribution to JournalArticleAcademicpeer-review

    Abstract

    Berardinelli-Seip congenital lipodystrophy (BSCL) is an uncommon autosomal recessive disorder. Patients with BSCL present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. During childhood, diabetes and acanthosis nigricans evolve and female patients may develop hirsutism. Different genes encoding this entity have been described. Achalasia is a rare esophageal motility disorder, characterized by its distinct motility pattern with absent or incomplete lower esophageal sphincter (LES) relaxations. The exact cause of achalasia is yet unknown. Here, we describe a patient with achalasia in the context of BSCL, which might be linked by a shared pathophysiologic background, as evaluated in this case report. Conclusion: In a BSCL patient presenting with gastrointestinal symptoms, a motility disorder of the gastrointestinal tract should be considered.
    Original languageEnglish
    Pages (from-to)975-980
    JournalEuropean Journal of Pediatrics
    Volume174
    Issue number7
    DOIs
    Publication statusPublished - 2015

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