Salonen R, Somer M, Haltia M, Lorentz M, Norio R
Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Finland.
Clin Genet. 1991 Apr;39(4):287-93. doi: 10.1111/j.1399-0004.1991.tb03027.x.
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, hyperreflexia, 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.
