Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Video

Updated: Feb 11, 2026

Implantation of Total Artificial Heart in Congenital Heart Disease

Implantation of Total Artificial Heart in Congenital Heart Disease

Published on: July 18, 2014

Berardinelli-Seip Congenital Generalised Lipodystrophy.

Huma Arshad Cheema¹, Hassan Suleman Malik¹, Nadia Waheed¹

¹Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and The Institute of Child Health, Lahore.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

|April 26, 2018

Summary

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder. This case series from Pakistan highlights BSCL

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Vitamin C for the management of COVID-19: a systematic review and meta-analysis of randomized controlled trials.

Annals of medicine and surgery (2012)·2026

Same author

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Nature communications·2026

Same author

A transposase-derived gene required for human brain development.

Science advances·2026

Same author

Ophthalmic Manifestations Heralding Renal Pathology: A Rare Case of Bilateral Optic Disc Edema with Exudative Maculopathy in IgA Nephropathy.

Case reports in ophthalmology·2026

Same author

Corneal Actinic Keratosis in an Elderly Farmer: A Rare Case Report.

Case reports in ophthalmology·2025

Same author

Shimmering Clarity: A Rare Case Report of Ocular Cystinosis.

Case reports in ophthalmology·2025

Area of Science:

Endocrinology
Genetics
Metabolic Disorders

Background:

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare genetic disorder impacting glycemic and lipid metabolism.
It is characterized by lipoatrophy, acromegaly, acanthosis nigricans, and tall stature.

Observation:

This study reports the first case series of five BSCL patients from Pakistan.
Clinical manifestations included marked adipose tissue atrophy and hypertriglyceridemia.
One patient developed hyperinsulinism managed with metformin.

Findings:

The cases presented typical clinical features and complications of BSCL.
Genetic studies were not feasible due to local laboratory limitations.
All patients exhibited hypertriglyceridemia, a common metabolic derangement in BSCL.

More Related Videos

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma

Published on: December 15, 2023

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

Related Experiment Videos

Last Updated: Feb 11, 2026

Implantation of Total Artificial Heart in Congenital Heart Disease

Implantation of Total Artificial Heart in Congenital Heart Disease

Published on: July 18, 2014

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma

Published on: December 15, 2023

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

Implications:

Current management focuses on low-fat diets and addressing insulin resistance and diabetes.
Leptin-replacement therapy shows promise for metabolic correction in BSCL.
Further research into BSCL treatment is crucial, especially regarding novel therapeutic strategies.