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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

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