An unusual type of primary cerebral hemihypotrophy with signs of dysfunctional neuronal migration.

We describe the neuropathological features of a complex brain malformation characterized by cerebral hemihypotrophy with ipsilateral lissencephaly, periventricular nodular heterotopia and macrogyria. The contralateral hemisphere showed only slight alterations of the gyral pattern and a limited periventricular gray matter heterotopia. The clinical picture of the patient, who died at the age of 15 years, consisted of severe oligophrenia, intractable seizures and left hemiparesis. We discuss the nosological status of this neuronal migration disorder of apparently unknown origin.

Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency.

We report on a male patient aged 38, affected by a syndrome whose characteristic features include onset in early childhood, slow progression, diffuse muscle weakness, mental retardation and cardiomyopathy. Muscle biopsy showed myopathic changes compatible with muscular dystrophy. However, immunostaining for dystrophin as well as 50 and 43 kDa dystrophin-associated glycoproteins (DAGs) was normal. Genetic analysis suggested that direct involvement of the dystrophin gene was highly unlikely. No other family members were affected. Although the clinical picture is reminiscent of Duchenne/Becker muscular dystrophy, the immunologically and genetically documented lack of dystrophin involvement suggests that this particular syndrome is as yet undescribed.

Progressive rubella panencephalitis. Follow-up EEG study of a case.

Progressive rubella panencephalitis is a very rare slow virus disease of the nervous system. The authors present a case, concerning a young man, aged 20 years, died 11 months after the onset of the disease. The following peculiarities of the case are emphasized: 1) the clinical symptomatology and the evolution (myoclonus, lack of cerebellar impairment) could suggest the diagnosis of SSPE; 2) the EEG recordings showed epileptiform abnormalities, long latency diffuse periodic complexes and--during interferon therapy and simultaneously with a temporary clinical improvement--the appearance of short latency anterior periodic complexes.

[Possibilities of error in EEG in sleep and consciousness (electroencephalographic observations in 153 children)]. / Considerazioni sulle possibilità d'errore in EEG di veglia e sonno (osservazioni elettroencefalografiche su 153 bambini).

The study concerns the EEG records of 153 children, aged within 1 and 4 and suffering from different neuropsychiatric disorders. Particularly during the first stages of sleep, graphoelements of epileptogenic morphology have been recorded in considerable amount. Obviously they were present in the records of clinically epileptic patients but they appeared also in the records of several patients having never suffered from epileptic seizures. The Authors suggest extreme caution in considering "epileptogenic" EEG patterns evoked by sleep in those children who are not clinically epileptic.

[Nonpharmacological, ubiquitous, rapid, fused graphic elements in the electroencephalographic pattern of 2 sisters with type A sulfatidosis and ponto-cerebellar systemic atrophy]. / Grafoelementi rapidi fusati ubiquitari non farmacologici nel tracciato elettroencefalografico di due sorelle con sulfatidosi di tipo A ed atrofia sistemica ponto-cerebellare

Two sisters, affected by late infantile type Sulfatidosis A, died at 22 and 15 years old respectively, presented, after autoptic examination, also a ponto-cerebellar athrophy. The EEG finding was characterized by few bioelectric abnormalities in the earlier studies of the disease and, afterwards, a progressive slower electric activities, with isolated asymmetric spikes. The typical aspects in the EEG recordings of our two patients were the presence of many rapid and diffuse elements, shay wawes without any pharmacological treatment. The significance of these peculiar recordings is there discussed.

[Pathogenetic, clinical and therapeutic considerations on a case of the stiff man syndrome]. / Considerazioni patogenetiche, cliniche, e terapeutiche su di un caso di stiff man syndrome

The AA. describe the clinical features of a woman (fourty-one years old) suffering from Stiff-man syndrome. The treatment with diazepam and baclophene improuved the symptoms in a very satisfactory manner. The Author's opinion is that syndrome could be due to abnormal activity of neurotransmitters.

[Serial electroencephalographic study of 3 siblings with agenesis of the interhemispheric great commissurae, cortical neuronal immaturity and hypoplasia of the optico-pyramidal tracts]. / Studio elettroencefalografico seriato di tre germani affetti da agenesia delle grandi commissure interemisferiche, immaturità neuronale corticale e ipoplasia delle vie ottico piramidali

Three children, two females and one male, born from unrelated parents show brachycephaly, ogival palate, blindness from 5-6 months and progressive piramidal symptoms. Two subjects had since sixth monthy epileptic seizures, the other one died at 5 th month. In one subject died at 28 month age, central nervous system autoptic examination shows neuronal cortical immaturity, lack of corpus callosum, visual and piramidal patways hypoplasia. The serial EEG recording shows three caracteristic aspects: a) altough a marked changes, the organization of the electric cerebral activity was partially preserved; b) a epileptogenic potentiality was present, that is caracteristic of electro-clinic immage of this subject; c) a suggestive and peculiar tendency to asincrony and asimmetry of epileptic tendency in two hemispheres.