Berardinelli type lipodystrophy
| Classification according to ICD-10 | |
|---|---|
| E88.1 | Lipodystrophy, not elsewhere classified
Lipodystrophy onA |
| ICD-10 online (WHO version 2019) | |
The congenital generalized lipodystrophy is a very rare congenital disease with gigantism , increasing degradation of fat ( lipodystrophy ), muscle hypertrophy, treatment-resistant high blood sugar ( hyperglycemia ), acromegaly , changes in the ovaries and thickening of the epidermis.
Synonyms are:
- Berardinelli-Seip syndrome
- Seip-Lawrence Syndrome
- Lipatrophic diabetes mellitus
- Brunzell Syndrome
- Progressive lipodystrophy
distribution
Inheritance is autosomal - recessive . The frequency is estimated at 1 in 400,000.
root cause
Currently, after the genetic changes, several types of engl. Congenital Generalized Lipodystrophy (CGL) differentiated:
- CGL1 with mutations in the AGPAT2 gene at location 9q34.3
- CGL2 with mutations in the BSCL2 gene at location 11q12.3
- CGL3 with mutations in the CAV1 gene at location 7q31.2
Clinical manifestations
The extent of lipodystrophy differs between the types mentioned. Clinical criteria are:
- Macrosomia even in infancy and early childhood
- Muscle hypertrophy even in infancy
- Progressive lipodystrophy affecting the whole body
- Hypertrichosis
- Early signs of virilization , precocious puberty , polycystic ovaries
- Acromegalic tall stature
- Enlarged veins subcutaneously
- Hepatosplenomegaly
- Hyperpigmentation (pseudoacanthosis nigricans)
- Insulin-resistant acetic diabetes mellitus
- Mental development delayed in 50%.
diagnosis
The diagnosis results from the clinic and the laboratory values. The X-ray shows an accelerated skeletal age .
Differential diagnosis
Other forms of insulin resistance are to be distinguished as well
- Familial lipodystrophy syndromes
- Partial lip atrophy
- Sotos syndrome
- Laminopathies
- Parry-Romberg Syndrome
- Barraquer-Simons Syndrome
therapy
A causal treatment is not known, the focus is on the treatment of diabetes.
Prospect of healing
The adult size is in the norm. The prognosis is not considered good due to early complications of diabetes.
history
The disease was first described in 1946 by the English dermatologist RD Lawrence , further in 1954 by the Brazilian endocrinologist W. Berardinelli (1903-1956) and in 1959 by the Norwegian pediatrician M. Seip .
Individual evidence
- ↑ a b c d B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
- ^ A b Berardinelli-type lipodystrophy. In: Orphanet (Rare Disease Database).
- ^ Berardinelli type lipodystrophy. In: Online Mendelian Inheritance in Man . (English)
- ^ Berardinelli type lipodystrophy. In: Online Mendelian Inheritance in Man . (English)
- ^ Berardinelli type lipodystrophy. In: Online Mendelian Inheritance in Man . (English)
- ↑ K. Böhmer, H. Hauner, R. Phlippen, FA Gries: Successful insulin therapy in lipatrophic diabetes. In: German Medical Weekly (1946). Volume 116, Number 12, March 1991, pp. 454-459, ISSN 0012-0472 . doi: 10.1055 / s-2008-1063632 . PMID 2004587 .
- ↑ RD LAWRENCE: Lipodystrophy and hepatomegaly with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. (concluded). In: Lancet. Volume 1, number 6404, May 1946, p. 773, ISSN 0140-6736 . PMID 20986113 .
- ↑ W. BERARDINELLI: An undiagnosed endocrinometabolic syndrome: report of 2 cases. In: The Journal of clinical endocrinology and metabolism. Volume 14, Number 2, February 1954, pp. 193-204, ISSN 0021-972X . doi: 10.1210 / jcem-14-2-193 . PMID 13130666 .
- ↑ M. SEIP: Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? In: Acta paediatrica. Volume 48, November 1959, pp. 555-574, ISSN 0365-1436 . PMID 14444642 .
