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Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

ABSTRACT: UNLABELLED: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.

SUBMITTER: van der Pol RJ

PROVIDER: S-EPMC4475245 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

van der Pol Rachel J RJ Benninga Marc A MA Magré Jocelyne J Van Maldergem Lionel L Rotteveel Joost J van der Knaap Marjo S MS de Meij Tim G TG

European journal of pediatrics 20150522 7

<h4>Unlabelled</h4>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 ...[more]

PMID: 25994244

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Project description:Berardinelli-Seip congenital lipodystrophy (BSCLD) (OMIM#269700) is a rare autosomal recessive disorder characterized by marked paucity of adipose tissue, a muscular habitus, insulin resistance, hypertriglyceridemia and hepatic steatosis. It is an anabolic syndrome due to the deficiency of leptin, a lipid modulator, leading to the inappropriate mobilization of fat. Four types of BSCLD have been described based on the site of genetic mutation. Type 2 accounts for an earlier onset, more severe complications and intellectual disability. This is due to the lower leptin levels and the loss of functional seipin in type 2 BSCLD. We report the evolving phenotype of type 2 BSCLD in a boy clinically diagnosed at age 5 months and confirmed by molecular genetic study which revealed a pathogenic mutation in the BSCL2 gene: c.782dupG, p.lle262Hisfs*12homozygous. He is the firstborn of non-consanguineous parents with no significant family history. He has a muscular habitus with a distinct facies, hypertrichosis, absence of subcutaneous fat and hepatomegaly. Investigations revealed hypertriglyceridemia and insulin resistance. A conventional approach to management with dietary fat restriction successfully controlled his biochemical parameters, thus preventing catastrophic complications such as systemic arterial hypertension, heart failure and pancreatitis. Genetic counseling was conferred and prenatal testing recommended for future pregnancies. On follow-up, he had a muscular habitus with hepatomegaly and global developmental delay. Despite early correction of his biochemical parameters, an abdominal ultrasound revealed early onset fatty liver disease and an echocardiogram showed a thickened interventricular septum suggestive of early hypertrophic obstructive cardiomyopathy (HOCM). A fasting serum leptin done was low at 0.8 ng/mL (normal range, 2.0-5.6 ng/mL) confirming leptin deficiency. A leptin analog is now available as an adjunct to mollify the metabolic complications of BSCLD. However, it is yet to be available in developing nations and whether it is able to assuage progressive hepatic cholestasis and HOCM remains a field to venture. This report highlights the importance of early recognition and confirmation by molecular diagnosis to direct appropriate surveillance of complications. This also enables early genetic counseling and prenatal testing for future pregnancies. We describe the evolving phenotype, pertinent investigations and the conventional approach to the management of BSCLD.

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Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

Publications

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

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