Rabson-Mendenhall Syndrome
| Classification according to ICD-10 | |
|---|---|
| E13 | Other specified diabetes mellitus |
| ICD-10 online (WHO version 2019) | |
The Rabson-Mendenhall syndrome is a very rare congenital disease with a combination of marked insulin resistance and hyperplasia of the pineal gland .
Synonyms are: Mendenhall syndrome; Insulin resistance with familial pineal hyperplasia ; English Pineal Hyperplasia, Insulin-Resistant Diabetes mellitus, and Somatic Abnormalities
The name refers to the authors of the first description from 1956 by the American pathologists Samuel Milton Rabson and EN Mendenhall .
distribution
The frequency is stated to be less than 1 in 1 million, the inheritance is autosomal - recessive .
root cause
The disease are mutations in INSR - gene in chromosome 19 locus P13.2 basis leading to a lack of insulin receptors lead.
Clinical manifestations
Clinical criteria are:
- Diabetes mellitus with insulin resistance
- Growth retardation already beginning intrauterine , hypotrophy of the muscles and the adipose tissue
- a acromegaly reminiscent facial abnormalities with dysplasia of the teeth , eye-catching hair, hirsutism
- thickened nails
- Acanthosis nigricans
- Hyperplasia of the corpus pineal
diagnosis
The focus is on hypoglycemia both fasting and postprandial with hyperinsulinemia .
Differential diagnosis
Must be distinguished are the Leprechaunism and the insulin resistance syndrome type A .
Prospect of healing
The prognosis is poor, most of them die in the first few years of life.
literature
- I. Hassan, H. Altaf, A. Yaseen: Rabson-Mendenhall syndrome. In: Indian journal of dermatology. Vol. 59, No. 6, November 2014, p. 633, doi: 10.4103 / 0019-5154.143579 , PMID 25484423 , PMC 4248531 (free full text).
- J. Gupta, JM Daniel, V. Vasudevan: Rabson-Mendenhall syndrome. In: Journal of the Indian Society of Pedodontics and Preventive Dentistry. Vol. 30, No. 3, 2012 Jul-Sep, pp. 279-282, doi: 10.4103 / 0970-4388.105026 , PMID 23263437 .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d e Rabson-Mendenhall Syndrome. In: Orphanet (Rare Disease Database).
- ↑ SM Rabson, EN Mendenhall: Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. In: American Journal of Clinical Pathology . Vol. 26, No. 3, March 1956, pp. 283-290, PMID 13302174 .
- ^ Who named it Rabson-Mendenhall syndrome
- ^ Genetics Home Reference
- ↑ Rabson-Mendenhall syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ Insulin resistance syndrome type A. In: Orphanet (database for rare diseases).
