title: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
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.
  
  
  CONCLUSIONS
  In a BSCL patient presenting with gastrointestinal symptoms, a motility disorder of the gastrointestinal tract should be considered.
  
  
  BACKGROUND
  • Berardinelli-Seip congenital lipodystrophy (BSCL) and achalasia are both disorders characterized by low prevalence. What is New: • Co-existence of both diseases is described in this report. Linkage by a potential common pathophysiologic background is discussed in this paper.
authors.affiliation: Department of Pediatric Gastroenterology and Nutrition, Emma Children's Hospital AMC, Amsterdam, The Netherlands, r.j.vanderpol@amc.uva.nl.
authors.forename: Rachel J
authors.initials: RJ
authors.lastname: van der Pol
authors.forename: Marc A
authors.initials: MA
authors.lastname: Benninga
authors.forename: Jocelyne
authors.initials: J
authors.lastname: Magré
authors.forename: Lionel
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: Joost
authors.initials: J
authors.lastname: Rotteveel
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Tim G
authors.initials: TG
authors.lastname: de Meij
mesh_terms: D000293:Adolescent; D018389:Codon, Nonsense; D004931:Esophageal Achalasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications* / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics
chemical_list: C497835:CAVIN1 protein, human; D018389:Codon, Nonsense; D016601:RNA-Binding Proteins