Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

• Published in: European journal of pediatrics Vol. 174; no. 7; pp. 975 - 980
• Main Authors: van der Pol, Rachel J., Benninga, Marc A., Magré, Jocelyne, Van Maldergem, Lionel, Rotteveel, Joost, van der Knaap, Marjo S., de Meij, Tim G.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-07-2015; Springer Nature B.V; Springer Verlag [1975-....]
• Series: Equipe 5
• Subjects: Acanthosis nigricans; Achalasia; Adolescent; Case Report; Children; Codon, Nonsense; Congenital diseases; Diabetes mellitus; Esophageal Achalasia - complications; Esophageal Achalasia - diagnosis; Esophageal Achalasia - genetics; Esophageal sphincter; Esophagus; Female; Gastrointestinal tract; Hereditary diseases; Hirsutism; Humans; Life Sciences; Lipodystrophy; Lipodystrophy, Congenital Generalized - complications; Lipodystrophy, Congenital Generalized - genetics; Medicine & Public Health; Motility; Pediatrics; Phenotypes; RNA-Binding Proteins - genetics; Sphincter; Manometry; Achalasia; Berardinelli-Seip congenital lipodystrophy; Congenital Generalized; Codon; Esophageal Achalasia; Adolescent; Lipodystrophy; Nonsense; Female; RNA-Binding Proteins; humans
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s00431-015-2556-y

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.
What is Known:
•
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.