Woodhouse-Sakati syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Woodhouse-Sakati syndrome is a very rare congenital disease with the main features dysfunction gonads ( hypogonadism ), diabetes mellitus , deafness , mental retardation and hair loss ( alopecia ).
Synonyms are: diabetes mellitus - hypogonadism - deafness - mental retardation
The name refers to the first authors of the first description from 1983 by the Saudi Arabian doctors Nicholas J. Woodhouse and Nadia A. Sakati.
distribution
The frequency is given as less than 1 in 1,000,000, so far about 30 affected people have been reported. Inheritance is autosomal - recessive .
root cause
Of the disease are mutations in DCAF17 - gene (C2ORF37) on chromosome 2 gene locus q31.1 based coded unknown for which a nucleolar protein function.
Clinical manifestations
Clinical criteria are:
- Manifestation mostly in adolescence
- Disorders of the endocrine system : hypogonadism, decreased IGF-1 , juvenile diabetes mellitus (in 66%) and hypothyroidism (in 30%)
- Alopecia
- Neurological changes: extrapyramidal (in 56%) including dystonia , chorea , dysarthria and dysphagia
- Sensorineural hearing loss beginning in childhood (in 62%)
- Intellectual disability (in 58%)
diagnosis
The diagnosis is based on the clinical changes. imaged are leukoencephalopathy with non-contrast enhancing lesions in the frontal lobe and periventricular and an abnormally small pituitary gland , and also (not always) Iron in globus pallidus and substantia nigra by MRI important information.
literature
- S. Bohlega, AH Abusrair, FS Al-Ajlan, N. Alharbi, A. Al-Semari, B. Bohlega, D. Abualsaud, F. Alkuraya: Patterns of neurological manifestations in Woodhouse-Sakati Syndrome. In: Parkinsonism & related disorders. Volume 69, December 2019, pp. 99-103, doi: 10.1016 / j.parkreldis.2019.10.007 , PMID 31726291 .
- E. Kurnaz, A. Türkyılmaz, O. Yaralı, B. Demir, A. Çayır: A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature. In: Journal of pediatric endocrinology & metabolism: JPEM. Volume 32, number 11, November 2019, pp. 1287–1293, doi: 10.1515 / jpem-2019-0173 , PMID 31472064 .
Individual evidence
- ↑ a b c d Woodhouse-Sakati syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b S. A Bohlega, FS Alkuraya: Woodhouse-Sakati Syndrome. In: GeneReviews®. University of Washington, Seattle, Seattle WA 1993, PMID 27489925 ( https://www.ncbi.nlm.nih.gov/books/NBK378974/ nih.gov)
- ↑ NJ Woodhouse, NA Sakati: A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. In: Journal of medical genetics. Volume 20, number 3, June 1983, pp. 216-219, doi: 10.1136 / jmg.20.3.216 , PMID 6876115 , PMC 1049050 (free full text).
- ↑ Woodhouse-Sakati syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ AH Abusrair, S. Bohlega, A. Al-Semari, FS Al-Ajlan, K. Al-Ahmadi, B. Mohamed, A. AlDakheel: Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. In: AJNR. American journal of neuroradiology. Volume 39, number 12, 12 2018, pp. 2256–2262, doi: 10.3174 / ajnr.A5879 , PMID 30409855 .
