PEHO Syndrome
Authors:
A. Zumrová 1; V. Komárek 1; M. Macek 2; I. Šebesta 3,4
Authors‘ workplace:
Klinika dětské neurologie 2. LF UK, FNsP v Motole, Praha, 1přednosta doc. MUDr. V. KomárekÚstav biologie a lékařské genetiky 2. LF UK, FNsP v Motole, Praha, 2přednosta prof. MUDr. P. Goetz, CSc. Oddělení klinické biochemie 1. LF UK, Praha, 3přednosta doc.
Published in:
Čes-slov Pediat 1999; (8): 437-439.
Category:
Overview
The term PEHO syndrome is an abbreviation from the first letters of the most important symptoms:
progressiveencephalopathy, edema - in particular of the face and extremities, hypsarrhythmia and atrophy of the optic nerve.The authors demonstrate case-records of two female patients who meet the criteria of PEHO syndrome, wherebyin one patient adenylsuccinate lyase deficiency was confirmed. In the second case the authors draw attention tothe long-term therapeutic effect of felbamate in refractory epilepsy which is associated with the disease in themajority of cases.
Key words:
PEHO syndrome, progressive encephalopathy, adenylsuccinate lyase
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
1999 Issue 8
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