Autopsy Findings in Three Cases of Hypsarhythmia (Infantile Spasms with Mental Retardation)¹

Familial infantile spasms and hypsarrhythmia associated with leucodystrophy

“…Vacuolation and defective myelination of the cerebral white matter are important features of infantile spongy degeneration of the van Bogaert and Bertrand type, a condition often associated with progressive enlargement of the head and heavy brains (Banker, Robertson, and Victor, 1964;Hogan and Richardson, 1965). Similar features have also been noted in other conditions, notably maple syrup urine disease and homocystinuria (Crome, Dutton, and Ross, 1961;Silberman, Dancis, and Feigin, 1961;Chou and Waisman, 1965) and in cases of infantile spasm and hypsarrhythmia (Poser and Low, 1960). In the present cases large amounts of sudanophilic products, evidence of active demyelination, were present, a finding, which, together with a raised level of lipid and non-lipid hexosamine obtained by chemical studies, points in the direction of sudanophilic leucodystrophy.…”

Neuropathologic Study of Resected Cerebral Tissue from Patients with Infantile Spasms

“…The neuropathologist has an important role in assessing the morphologic correlates of infantile spasms, usually associated with hypsarrhythmia, as well as other forms of catastrophic childhood epilepsy or generalized epilepsy in all age groups (Poser and Low, 1960;Sinton and Patterson, 1962;Tjiam et al, 1978;Riikonen, 1982;Toga and Gambarelli, 1982;Meencke andJanz, 1984, 1985;Meencke and Gerhard, 1985;Dulac et al, 1987;Jellinger, 1987;Palm et al, 1987;Vinters et al, 1990Vinters et al, , 1992Vinters et al, , 1993. To date, most studies of the structural substrate of infantile spasms have utilized end-stage or autopsy material from infants and children who have had complex seizure disorders for months or years before death.…”

“…Infants and children with infantile spasms may have no structural brain abnormalities, or may have one or more types of neuropathologic lesion. Abnormalities that have been associated with infantile spasms include major central nervous system (CNS) malformations, variants of tuberous sclerosis, extensive spongy change with edema, sequelae of pre-or perinatal anoxic-ischemic or hemorrhagic events, the effects of viral or parasitic infections early in life or in utero, metabolic disorders (including hypoglycemia), and familial metabolic diseases, to name a few (Poser and Low, 1960;Meencke and Gerhard, 1985;Dulac et al, 1987;Jellinger, 1987). Even intracranial neoplasms (ganglioglioma, choroid plexus papilloma) have been associated with infantile spasms (Branch and Dyken, 1979;Gabriel, 1980).…”

Genetic Predisposition to West Syndrome

“…Examples are the chromosomal translocation of Miller Dieker syndrome (Dobyns et al, 1984) and a wide range of monogenic diseases. WS has occasionally been reported in diseases with autosomal recessive transmission, including various types of leukodystrophy (Poser and Low, 1960;Bignami et al, 1966;Andrews et al, 1971), Leigh's disease (Kamoshita et al, 1970), pyridoxine dependancy (French et al, 1965), and various aminoacidopathies including phenylketonuria (Poley and Dumermuth, 1968). WS has also been reported occasionally in diseases with autosomal dominant transmission, including neurocutaneous syndromes, particularly Jadasson's nevus (Martin Blasquez et al, 1988) and neurofibromatosis (Huson et al, 1988), and in rare sex-linked dominant diseases such as incontinentia pigmenti (Simonsson, 1972).…”