Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Berardinelli-Seip lipodystrophy.

Yuko Kobashi1, Amy Schoenbaum, Robert P Hasserjian

  • 1Department of Radiology, St. Mariana University School of Medicine, 2-16-1 Sugao Miyamae, Kawasaki city, Kanagawa 261-8511, Japan.

Skeletal Radiology
|June 8, 2007
PubMed
Summary
This summary is machine-generated.

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

Real-world, multi-omics validation of the clinical relevance of molecular taxonomy for myelodysplastic syndromes (MDS).

HemaSphere·2026
Same author

Evaluation of prognostic factors and outcomes in primary versus secondary myeloid sarcoma.

Human pathology·2026
Same author

Monocytes matter: prognostic impact in clonal hematopoiesis.

Blood·2026
Same author

Deletion 11q, monosomy 13, and deletion 13q in noncomplex karyotype acute myeloid leukemia.

Blood neoplasia·2026
Same author

Contemporary approach to diagnosis and classification of acute myeloid leukemia.

Human pathology·2026
Same author

The Clinicopathologic and Genomic Features of Mature Versus Blastic Plasmacytoid Dendritic Cell Neoplasms Arising From Chronic Myeloid Neoplasms.

The American journal of surgical pathology·2026

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder causing diabetes and severe fat deficiency. Early recognition of its distinct clinical and imaging features is key for diagnosis.

Area of Science:

  • Metabolic disorders
  • Genetics and rare diseases

Background:

  • Berardinelli-Seip lipodystrophy (BSCL) is a rare congenital metabolic disorder.
  • Characterized by insulin-resistant diabetes mellitus and a marked deficiency of adipose tissue.

Observation:

  • Clinical and imaging features stem from fat deficiency, diabetes, or secondary hyperinsulinemia.
  • Fat absence can be generalized or spare functional areas like palms and soles.
  • Hypertrophic muscles and idiopathic peri-articular lytic lesions may also be present.

Findings:

  • The syndrome presents a unique combination of metabolic and physical characteristics.
  • Diagnostic recognition relies on integrating imaging, clinical, and laboratory findings.

Implications:

Related Experiment Videos

  • Understanding BSCL's multifaceted presentation aids in timely diagnosis.
  • Recognizing the syndrome facilitates appropriate management of associated metabolic complications.