Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
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CASE REPORT
Berardinelli-Seip syndrome and achalasia: a shared pathomechanism? Rachel J. van der Pol 1 & Marc A. Benninga 1 & Jocelyne Magré 2,3 & Lionel Van Maldergem 4 & Joost Rotteveel 5 & Marjo S. van der Knaap 6 & Tim G. de Meij 7
Received: 25 January 2015 / Revised: 23 April 2015 / Accepted: 26 April 2015 / Published online: 22 May 2015 # The Author(s) 2015. This article is published with open access at Springerlink.com
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. 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.
Communicated by Beat Steinmann Revisions received: 07 April 2015/23 April 2015 * Tim G. de Meij [email protected]
1
Rachel J. van der Pol [email protected]
Department of Pediatric Gastroenterology and Nutrition, Emma Children’s Hospital AMC, Amsterdam, The Netherlands
2
Marc A. Benninga [email protected]
INSERM UMR_S938, Université Pierre et Marie Curie, Paris, France
3
INSERM UMR_S1087, L’Institut du Thorax, Nantes, France
Jocelyne Magré [email protected]
4
Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France
Lionel Van Maldergem [email protected]
5
Department of Pediatric Endocrinology, VU University Medical Center, Amsterdam, The Netherlands
Joost Rotteveel [email protected]
6
Department of Pediatric Neurology, VU University Medical Center, Amsterdam, The Netherlands
Marjo S. van der Knaap [email protected]
7
Department of Pediatric Gastroenterology, VU University Medical Center, Amsterdam, The Netherlands
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Keywords Berardinelli-Seip congenital lipodystrophy . Achalasia . Manometry Abbreviations BSCL Berardinelli-Seip congenital lipodystrophy CAV1 Caveolin 1 HRM High-resolution manometry ICC Interstitial cells of Cajal LES Lower esophageal sphincter PTRF Polymerase I and transcript release factor
Eur J Pediatr (2015) 174:975–980
esophagus. The exact cause of achalasia remains to be elucidated yet, but decreased or absent
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