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Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
Author(s) -
Salonen R.,
Somer M.,
Haltia M.,
Lorentz M.,
Norio R.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03027.x
Subject(s) - hypsarrhythmia , atrophy , microcephaly , medicine , hypotonia , encephalopathy , pediatrics , pathology , epilepsy , psychiatry
We describe 14 patients, from 11 families, who have a progressive encephalopathy with early onset. The clinical signs of the disease are severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperrcflexia, transient or persistent edema, and optic atrophy. These findings and the characteristic dysmorphic features allow recognition of these patients, although no basic metabolic defect has been found. Microcephaly and atrophy of the brain develop, especially in the cerebellar and brain stem areas. An autosomal recessive mode of inheritance is likely.