Herrmann-Aguilar-Sacks Syndrome
| Classification according to ICD-10 | |
|---|---|
| G40.3 | Generalized idiopathic epilepsy and epileptic syndromes |
| H91.9 | Other hearing loss, hearing loss or deafness without further information |
| E14 | Unspecified diabetes mellitus |
| ICD-10 online (WHO version 2019) | |
The Herrmann-Aguilar-bag syndrome is a rare autosomal dominant hereditary congenital disease with the main features in adulthood onset of myoclonic epilepsy with numbness , nephropathy , diabetes mellitus and early dementia .
Synonyms are: Herrmann syndrome; English Photomyoclonus, Diabetes mellitus, Deafness, Nephropathy and Cerebral Dysfunction
The name refers to the first authors of the first description from 1964 by the US doctors C. Herrmann , MJ Aquilar and OW Sacks .
Clinical manifestations
Clinical criteria are:
- Photogenic myoclonus epilepsy in adulthood
- progressive inner ear hearing loss
- Diabetes mellitus
- chronic nephropathy
- premature dementia
diagnosis
In blood serum there are increased glycoproteins and Mucoproteins in urine increased alanine and leucine .
Web links
- PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION. In: Online Mendelian Inheritance in Man . (English)
- Rare Diseases
Individual evidence
- ↑ a b c 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 .
- ↑ C. Herrmann, MJ Aguilar, OW Sacks: Hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction. In: Neurology. Volume 14, March 1964, pp. 212-221. PMID 14129050 .
