ArticleEuropean journal of pediatrics2015
Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
Article in European journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026Review
- Plasma membrane remodeling determines adipocyte expansion and mechanical adaptability.Nature communications · 2024Article
- A deep learning-based tool for the automated detection and analysis of caveolae in transmission electron microscopy images.Computational and structural biotechnology journal · 2023Article
- A new mutation in theFrontiers in endocrinology · 2023Review
- Caveolar dysfunction and lipodystrophies.European journal of endocrinology · 2022Article
- Molecular and Cellular Bases of Lipodystrophy Syndromes.Frontiers in endocrinology · 2021Review
- Lessons from cavin-1 deficiency.Biochemical Society transactions · 2020Review
- Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.The Journal of clinical endocrinology and metabolism · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledBerardinelli-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.
conclusionIn 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.
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