PEHO and PEHO-like syndromes: Report of five Australian cases
Version of Record online: 13 MAY 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 122A, Issue 1, pages 6–12, 15 September 2003
How to Cite
Field, M.J., Grattan-Smith, P., Piper, S.M., Thompson, E.M., Haan, E.A., Edwards, M., James, S., Wilkinson, I. and Adès, L.C. (2003), PEHO and PEHO-like syndromes: Report of five Australian cases. Am. J. Med. Genet., 122A: 6–12. doi: 10.1002/ajmg.a.20216
- Issue online: 25 AUG 2003
- Version of Record online: 13 MAY 2003
- Manuscript Accepted: 12 MAR 2003
- Manuscript Received: 25 JUL 2001
- progressive encephalopathy;
- optic atrophy
PEHO syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. Few patients fulfilling the diagnostic criteria for PEHO syndrome have been reported outside Finland. Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions (often with a hypsarrhythmic EEG pattern), transient or persistent peripheral oedema, and optic atrophy. Cerebellar and brainstem atrophy are usually present on neuroimaging. A PEHO-like syndrome has been described, in which the affected individuals have neither optic atrophy nor the typical neuroradiological findings. We report five Australian patients, the first with classical features of PEHO syndrome, and four who have a PEHO-like disorder. We compare their features with other published cases. We suggest that PEHO or a PEHO-like syndrome may affect more patients than are currently identified, based on the original diagnostic criteria for this disorder. © 2003 Wiley-Liss, Inc.