These data clearly establish the specificity of EA2 mutations compared with SCA-6 and familial hemiplegic migraine. Detailed clinical analysis of the mutation carriers showed the highly variable penetrance and expression of this disorder: Several of the carriers did not show any clinical symptom; others displayed atypical or permanent neurologic symptoms (such as recurrent, transient diplopia or severe, permanent, and isolated cerebellar ataxia).

The authors report at adult age 7 patients (6 men, one woman) with the syndrome of "acquired aphasia-epilepsy", 6 of which had been previously studied as children. The results of the language, neuropsychological and socio-educational evaluation detailed many years after the onset of the aphasia are the subject of this report. One man has recovered completely, one has a normal oral language but is severely dyslexic, one has recovered normal comprehension but has severe expressive language problems. Four have absent language comprehension and lack of expressive speech, and only one of them has learned and is using sign language with some efficiency. None has developed functional written language. Attempts to offer a substitutive language to children with prolonged inability to understand and use oral language appears important but is fraught with problems. Although there are no conclusive data about the role of the continuous paroxysmal EEG discharges and the effect of their suppression with drug treatment on the prognosis of the aphasia, the definite fluctuations of the aphasia in some cases, the isolated recent case reports of definitive improvement with drug treatment justify further trials in this potentially severe and chronic condition.

We describe three children with unilateral cerebellar aplasia (UCA). Deliveries at term and neonatal periods were uneventful. Pregnancy was normal in one and complicated by mild bleeding (in second and fourth month respectively) in two instances. Presenting signs were delayed motor development with marked contralateral torticollis (n = 1), hemiplegia (n = 1) and unusual head nodding (n = 1). Neuroradiological investigations revealed complete aplasia (n = 1) and subtotal aplasia (n = 2) of one cerebellar hemisphere with only a residual wing-like structure below the tentorium. There was contralateral underdevelopment of the brainstem. The infant with hemiplegic cerebral palsy had an additional supratentorial periventricular parenchymal defect, contralateral to the cerebellar hypoplasia. In view of literature reports, describing similar neuroradiological or neuropathological findings in asymptomatic individuals, it is doubtful whether UCA is responsible for our patient's problems. In our cases UCA has presumably resulted from a prenatal destructive lesion, possibly an infarct, but the timing and exact nature are unknown.

The authors report six children with acquired aphasia of unknown etiology. The clinical picture was clearly different from that seen in the usual childhood aphasias and resemble other cases initially reported as "syndrome of acquired aphasia with convulsive disorder". All had associated paroxysmal EEG abnormalities, and 5 have had clinical seizures. The language disorder has improved or remained stationary and no other neurological signs have developed. Our review of the literature and the study of our personal cases show no uniform clinical picture in these children. Three different clinical patterns seem to emerge. The first group show rapid onset and recovery of aphasia, frequent fluctuations in the severity of the language deficit typical of so-called epileptic aphasia. These children appear to have a better prognosis. The second group show worsening of the aphasic deficit after repeated seizures or episodes of aphasia. In the third group progressive deficit in language comprehension (auditory agnosia) with a variable degree of recovery and rare or no clinical seizures. The possible significance of the EEG abnormalities has been discussed and the importance of the aphasia on general behavior and the problems of differential diagnosis have been stressed.

The authors report eight otherwise normal children who presented with transient dystonic postures and/or movements in infancy. The anomalies appeared during the first months of life, progressed during a period then gradually disappeared at follow-up (from 3 months to 5 years). Differential diagnosis with primary orthopedic problems, cerebral palsy and early progressive CNS disease may be difficult at onset of the symptoms. Transient dystonia is probably one of the numerous mechanisms responsible for some abnormalities of tone, posture and movement in infancy and may account for some of the cases labeled as "transient cerebral palsy". Our cases resemble those described by Willemse (19) as "benign idiopathic dystonia in the first year of life".

Twenty children with dystonia sensitive to L-Dopa were identified in a collaborative study by 11 European colleagues. Most cases showed clinical characteristics similar to those described by Segawa (age and mode of onset, marked diurnal fluctuations, predominant limb involvement with no or minimal axial dystonia and, in all cases, dramatic relief of symptoms with small doses of L-Dopa). The typical diurnal fluctuation of symptoms was not observed in 7 children. Significant differences in this respect were noted among affected siblings. There were 9 sporadic and 11 familial cases. The pedigrees observed do not contradict nor clearly confirm Segawa's hypothesis that this might be a dominantly inherited disorder with low penetrance. Response to low doses of L-Dopa was usually dramatic, the benefit was maintained over periods ranging from one to eight years without complications. Recurrence of symptoms on withdrawal was observed in all cases in which it was attempted. These cases represent a form of progressive, presumably hereditary, childhood dystonia, similar to that originally described in Japan and different from dystonia musculorum deformans. The absence of fluctuations of symptoms despite good L-Dopa response and the great variability in the severity of the disorder were important features which will require further study as will the homogeneity of the syndrome, the mode of genetic transmission and the need for persistent L-Dopa treatment in adult life.

A case of pachygyria with associated nephrosis has been studied. Several microscopic abnormalities have been identified: cytoarchitectonic disorders including neuronal ectopies in the molecular layer and in the meninges, improperly oriented neurons shown with Golgi stain, fetal aspect of inferior olives. The mechanism of the disorder of migration and neuronal and dendritic orientation are discussed. The significance of the association of microcephaly and nephrosis is also reviewed in light of recent literature.

A special form of partial occipital epilepsy clinically resembling migraine and possibly related to the benign focal epilepsies of childhood has recently attracted attention (Gastaut 1982) but its existence is still debated. To approach this problem, in a group of 195 children with idiopathic partial or generalized epilepsy we have studied those who had visual complaints as part of their seizures (twelve children) and those who also had migraine (four children). The clinical and electroencephalographic features of these children were analyzed together with those of another group of thirty children diagnosed as migraine accompagnée in which an EEG had been obtained (3/30, i.e. 10% had paroxysmal spike-waves: one centrotemporal focus, two generalized spike-waves). One child with the type of epilepsy described by Gastaut (1982) as partial benign occipital epilepsy (phosphenes, moving lights, headaches and occipital high voltage biphasic spike-waves blocked by eye opening on the EEG) was found in the epileptic group whereas the other children of this group, including those with associated migraine, had other types of epilepsy. This "new" type of epileptic syndrome can be distinguished from symptomatically resembling entities but its place needs to be further defined.