Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO) - Like syndrome: What diagnostic characteristics are defining?

Journal of Child Neurology

Volumn 20, Issue 5, 2005, Pages 454-456

  D'Arrigo, Stefano ^a   Grazia, Bruzzone Maria ^a   Faravelli, Francesca ^b   Riva, Daria ^a   Pantaleoni, Chiara ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CEREBELLUM ATROPHY; DEVELOPMENTAL DISORDER; EDEMA; FACE DYSMORPHIA; FOLLOW UP; HUMAN; HYPSARRHYTHMIA; MALE; OPTIC NERVE ATROPHY; PEHO SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SEIZURE; SYMPTOMATOLOGY; SYNDROME; VISUAL FIELD DEFECT;

EID: 21044453931     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200051801     Document Type: Article

References (14)

1. Salonen R, Somer M, Haltia M, et al: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO syndrome). Clin Genet 1991;39:287-293.
2. Somer M, Sainio K: Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). Epilepsia 1993;34:727-731.
3. Riikonen R: The PEHO syndrome. Brain Dev 2001;23:765-769.
4. Shevell MI, Colangelo P, Treacey E, et al: Progressive encephalopathy with edema, hypsarrhythmia and otpic atrophy (PEHO syndrome). Pediatr Neurol 1996;15:337-339.
5. Haltia M, Somer M: Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). Acta Neuropathol (Berl) 1993;85:241-247.
6. Somer M, Salonen O, Pihko H, Norio R: PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy): Neuroradiological findings. AJNR Am J Neuroradiol 1993;14:861-867.
7. Somer M: Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 1993;30:932-936.
8. Chitty LS, Robb S, Berry C, et al: PEHO or PEHO-like syndrome? Clin Dysmorphol 1996;5:143-152.
9. Field MJ, Grattan-Smith P, Piper SM, et al: PEHO and PEHO-like syndromes: Report of five Australian cases. Am J Med Genet 2003; 122A:6-12.
10. Vanhatalo S, Somer M, Barth PG: Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. Neuropediatrics 2002;33:100-104.
11. Goizet C, Espil-Taris C, Husson M, et al: A patient with hydranencephaly and PEHO-like dysmorphic features. Ann Genet 2003;46:25-28.
12. Riikonen R, Somer M, Turpeinen U: Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) syndrome and cerebellar degeneration. Epilepsia 1999;40:1642-1648.
13. Vanhatalo S, Riikonen R: Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO syndrome). Epilepsia 2000;41:705-708.
14. Fujimoto S, Yokochi K, Nakano M, Wada Y: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO syndrome) in two Japanese siblings. Neuropediatrics 1995;26:270-272.