Familial infantile spasms and hypsarrhythmia associated with leucodystrophy

Abstract

In an Italian family, two little girls were affected by a condition characterized by infantile spasms, hypsarrhythmia, and rapid motor deterioration, resulting in death in the second year of life. A pathological study of one of them has shown sudanophilic leucodystrophy. The occurrence of this form of epilepsy in siblings is extremely rare and its association with sudanophilic leucodystrophy has not been reported in the literature to date. CASE REPORTSThe two sisters who form the subject of this study were born a year apart. An older brother has perfect health. No evidence was obtained of neurological or metabolic disease in any other member of the family.The elder of the affected children was delivered spontaneously, the result of an uncomplicated full-term pregnancy. The netnatal period appeared normal, as was psychomotor development up to 9 months of age, when the baby was able to sit alone, and showed a normal interest in her surroundings.Flexion spasms first appeared at 9 months in attacks lasting about 15 to 20 minutes, followed by crying. These fits were initially present only on waking. They were predominantly in flexion but occasionally also in extension. An E.E.G. during spontaneous sleep showed intense epileptic activity on all leads with spikes, polyspikes, and slow waves mixed in a disorderly way (Fig. la). On waking, paroxysmal bursts of slow and sharp activity were seen (Fig. lb). The generalized bursts of dysrhythmia on waking were often simultaneous with the myoclonic jerks. The records were considered compatible with hypsarrhythmia.At this stage the child was less responsive, moved less than before, and showed generalized hypotonus. The FeCl3 urine test for phenylpyruvic acid was negative. In

Genetic Study of Infantile Spasms with Hyp s arrhythmia

“…1962). The incidence of IS is the general population is very low (see Discussion); however, the occurrence of IS in siblings has been described by Jeavons and Bower (1964), Cotte-Ritaud and Delafin (1965), and Bignami et al (1966). A 2: I excess of males in a series of 112 patients described by Jeavons and Bower (1964) suggests the possibility of a sex-dependent susceptibility to IS.…”

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).…”

Familial Infantile Myoclonic Epilepsy in a Family Suffering from Tuberous Sclerosis

“…We mention the observations of Friedmann et al (lo), on a boy and a girl with myoclonic jerks of the limbs and attacks characterized by flexion of the head and upward deviation of the eyes (the elder sister also had convulsive seizures); all 3 children showed neurocutaneous sign of TS. The cases reported by Thieffrey and Aicardi (17): 2 brothers, one of this with agenesis of the corpus callosum; Jeune's 2 microcephalic sisters (cited by Cotte-Rittaud and Delafin, Z3); the 2 brothers with sudanophilic leucodystrophy and cerebellar atrophy described by Bignami et al (5); the apparently primary cases described by Cotte-Rittaud and Delafin (6).…”