Abstract
The progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO)
syndrome is a pediatric disorder of unknown origin, characterized by a combination
of postnatally progressive encephalopathy, hypsarrhythmia, and optic atrophy. The
pathological findings are early progressive atrophy of the cerebellum, brainstem,
and optic nerves. Nitric acid (NO) has recently been implicated in the mechanisms
of seizure activity and neurodegeneration, which are both very active in the PEHO
syndrome. However, recent studies have provided evidence that insulin-like growth
factor 1 (IGF-1) may prevent the NO-mediated neuronal damage and is essential for
the survival of the cerebellar granule cells. These cells will degenerate in the PEHO
syndrome. In this study, we set out to test the hypothesis that NO production is activated
in the PEHO syndrome and that NO production may be correlated with the reduced production
of IGF-1 in the brain. Cerebrospinal fluid IGF-1 was determined with an RIA kit and
NO metabolites by the Griess calorimetric method. In patients with the PEHO syndrome,
as compared with controls, the levels of IGF-1 were reduced and the levels of nitrite/nitrate
were markedly elevated. Defective production of IGF-1 probably reflects the underlying
neurodegeneration and the increase in NO production probably reflects the seizure
activity and/or neurodegeneration. These are the first biochemical abnormalities found
in the PEHO syndrome and their study may lead to a better understanding of this devasting
disease.
Keywords
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Article info
Publication history
Accepted:
May 31,
2001
Received in revised form:
May 28,
2001
Received:
April 9,
2001
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
