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B. Senior (1961)
Lipodystrophic Muscular HypertrophyArchives of Disease in Childhood, 36
E. Oral, V. Simha, E. Ruiz, Alexa Andewelt, A. Premkumar, P. Snell, A. Wagner, A. DePaoli, M. Reitman, Simeon Taylor, P. Gorden, A. Garg (2002)
Leptin-replacement therapy for lipodystrophy.The New England journal of medicine, 346 8
A Garg, R Wilson, E Arioglu, Z Zaida, F Gurakan (1999)
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34 [abstract]J Clin Endocr Metab, 84
M. Seip (1959)
Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?Acta paediatrica, 48
M Seip (1959)
Lipodystrophy and gigantism with associated endocrine manifestation: a new diencephalic syndrome? [abstract]Acta Paediatr, 48
L Maldergem, J Magre, TE Khallouf, T Gedde-Dahl, M Delepine, O Trygstad (2002)
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy [abstract]J Med Genet, 39
B. Tins, V. Cassar‐Pullicino (2006)
Marrow changes in anorexia nervosa masking the presence of stress fractures on MR imagingSkeletal Radiology, 35
M. Schwartz, D. Porte (2005)
Diabetes, Obesity, and the BrainScience, 307
K Mandal, S Aneja, A Khan (2006)
Berardinelli-Seip congenital lipodystrophy [abstract]Indian Pediatr, 43
W Berardinelli (1954)
An undiagnosed endocrinometabolic syndrome: report of two cases [abstract]J Clin Endocr, 14
V. Simha, A. Garg (2003)
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.The Journal of clinical endocrinology and metabolism, 88 11
K. Mandal, S. Aneja, A. Seth, Anam Khan (2006)
Berardinelli-Seip congenital lipodystrophy.Indian pediatrics, 43 5
R. Hegele (2001)
Premature Atherosclerosis Associated With Monogenic Insulin ResistanceCirculation: Journal of the American Heart Association, 103
M. Torriani (2007)
Measuring muscle lipids with 1H-MR spectroscopySkeletal Radiology, 36
R Hegele (2001)
Atherosclerosis associated with monogenic insulin resistance [abstract]Circulation, 103
L. Maldergem, J. Magré, T. Khallouf, T. Gedde-dahl, M. Delepine, O. Trygstad, E. Seemanová, T. Stephenson, C. Albott, F. Bonnici, V. Panz, J. Medina, P. Bogalho, F. Huet, S. Savasta, A. Verloes, J. Robert, H. Loret, M. Kerdanet, N. Tubiana-Rufi, A. Mégarbané, J. Maassen, M. Polak, D. Lacombe, C. Kahn, E. Silveira, F. D'abronzo, F. Grigorescu, M. Lathrop, J. Capeau, S. O’Rahilly (2002)
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyJournal of Medical Genetics, 39
J. Brunzell, S. Shankle, J. Bethune (1968)
Congenital generalized lipodystrophy accompanied by cystic angiomatosis.Annals of internal medicine, 69 3
W. Berardinelli (1954)
An undiagnosed endocrinometabolic syndrome: report of 2 cases.The Journal of clinical endocrinology and metabolism, 14 2
JD Brunzell, SW Shankle, JE Bethune (1968)
Congenital generalized lipodystrophy and systemic cystic angiomatosis: the simultaneous occurrence of two unusual syndromes in a single family [abstract]Ann Intern Med, 69
EA Oral, V Simha, E Ruiz (2002)
Leptin-replacement therapy for lipodystrophy [abstract]N Engl J Med, 346
A. Garg, R. Wilson, Robert Barnes, E. Arioglu, Z. Zaidi, F. Gürakan, N. Koçak, S. O’Rahilly, Simeon Taylor, Shailendra Patel, A. Bowcock, A. Bowcock (1999)
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.The Journal of clinical endocrinology and metabolism, 84 9
MW Schwartz, D Porte (2005)
Diabetes, obesity, and the brain [abstract]Science, 307
B Senior (1961)
Lipodystrophic muscular hypertrophy [abstract]Arch Dis Child, 36
J. Seaman, C. Kjeldsberg, A. Linker (1978)
Gelatinous transformation of the bone marrow.Human pathology, 9 6
Berardinelli-Seip lipodystrophy (BSCL) is a rare, but widely distributed, congenital disorder of metabolism. It is characterized by insulin-resistant diabetes mellitus and marked deficiency of adipose tissue. The clinical and imaging features of the syndrome are mostly due to fat deficiency, diabetes, or to manifestations of secondary hyperinsulinemia, which results from the failure of the tissues to respond to insulin. Absence of fat may be generalized, or depending upon the subtype of the disease, may not affect areas where fat plays a mechanical function, such as the palms and soles. Muscles appear hypertrophic. In addition, characteristic, but idiopathic, peri-articular lytic lesions may be seen in some individuals. The combination of imaging, clinical, and laboratory findings is characteristic and readily recognized once the components of the syndrome are known.
Skeletal Radiology – Springer Journals
Published: Oct 1, 2007
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