A case of Rud's syndrome featuring ichthyosis, epilepsy, mental retardation, right hemiparesis, severe hypoacusis, osteoporosis, and left cerebral hemiatrophy is reported. The last of these findings is particularly interesting since it is extremely rare. Differential diagnosis with the major clinical picture in which ichthyosis coexists with extra-cutaneous alterations (Sjogren-Larson and Refsum syndromes) is also discussed.
|Translated title of the contribution||Rud's syndrome. Description of one case|
|Number of pages||4|
|Publication status||Published - 1985|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health