King Denborough Syndrome
| Classification according to ICD-10 | |
|---|---|
| G71.2 | Congenital myopathies |
| ICD-10 online (WHO version 2019) | |
The King Denborough syndrome is a very rare congenital disease with the main features of congenital muscle weakness , deformities and risk of malignant hyperthermia .
Synonyms are: Koussef-Nichols syndrome; English King Syndrome; Anesthetic-induced malignant hyperpyrexia in children
The syndrome should not be confused with Koussef syndrome .
The name refers to the first author of the first description from 1962 by the Australian doctors MA Denborough and colleagues and was coined in 1992.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
The disease are mutations in RYR1 - gene on chromosome 19 locus q13.2 basis that the ryanodine receptor encoded.
Mutations on the same gene can also be found in malignant hyperthermia susceptibility (MHS) type 1.
Clinical manifestations
Clinical criteria are:
- Muscle weakness, easy fatigue
- delayed motor development
- Ptosis
- possibly creatine kinase -Increase
- Skeletal changes such as short stature , scoliosis , kyphosis , lumbar lordosis and keel or chicken breast
- Facial abnormalities such as hypertelorism , deep-seated auricles, micrognathia
- Cryptorchidism
- Susceptibility to malignant hyperthermia and / or rhabdomyolysis
literature
- MR Joseph, MC Theroux, JJ Mooney, S. Falitz, BW Brandom, DL Byler: Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C> T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report. In: A & A case reports. Volume 8, Number 3, February 2017, pp. 55-57, doi: 10.1213 / XAA.0000000000000421 , PMID 27918309 .
- JJ Dowling, S. Lillis, K. Amburgey, H. Zhou, S. Al-Sarraj, SJ Buk, E. Wraige, G. Chow, S. Abbs, S. Leber, K. Lachlan, D. Baralle, A. Taylor, C. Sewry, F. Muntoni, H. Jungbluth: King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. In: Neuromuscular disorders: NMD. Volume 21, Number 6, June 2011, pp. 420-427, doi: 10.1016 / j.nmd.2011.03.006 , PMID 21514828 .
- CE D'Arcy, A. Bjorksten, EM Yiu, A. Bankier, R. Gillies, CA McLean, LK Shield, MM Ryan: King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. In: Neurology. Volume 71, number 10, September 2008, pp. 776-777, doi: 10.1212 / 01.wnl.0000324929.33780.2f , PMID 18765655 .
- TD Heiman-Patterson, HR Rosenberg, CP Binning, AJ Tahmoush: King-Denborough syndrome: contracture testing and literature review. In: Pediatric neurology. Volume 2, Number 3, 1986 May-Jun, pp. 175-177, PMID 2907859 (Review).
Individual evidence
- ↑ a b c King-Denborough Syndrome. In: Orphanet (Rare Disease Database).
- ↑ Koussef syndrome. In: Orphanet (Rare Disease Database).
- ↑ MA Denborough, JF Forster, RR Lovell, PA Maple Stone, JD Villiers: Anesthetic deaths in a family. In: British journal of anesthesia. Volume 34, June 1962, pp. 395-396, PMID 13885389 .
- ^ H. Isaacs, ME Badenhorst: Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome. In: Muscle & nerve. Volume 15, Number 6, June 1992, pp. 740-742, doi: 10.1002 / mus.880150619 , PMID 1508238 .
- ↑ King Denborough syndrome. In: Online Mendelian Inheritance in Man . (English)
