[Recessive hereditary ataxia with early onset. Clinical study of 27 cases]. / Le eredoatassie recessive ad esordio precoce. Studio clinico di 27 casi.

Twenty-seven patients with autosomal recessive ataxia were studied. According to diagnostic criteria proposed by Quebec Cooperative Study, fifteen cases were diagnosed as Friedreich's ataxia. The remaining twelve cases showed clinical features of the "Early onset cerebellar ataxia with retained reflexes". The clinical differences between the two diseases are discussed. The high percentage of patients with "early onset cerebellar ataxia" is underlined.

Congenital dislocation of dens of the axis in a case of neurofibromatosis.

The clinical and radiological findings in a case of neurofibromatosis with congenital dislocation of dens of the axis are presented.

[The Sotos syndrome. Clinical and neuropsychiatric considerations in 1 case]. / La sindrome di Sotos. Considerazioni cliniche e neuropsichiatriche su un caso.

A case of Sotos' syndrome or cerebral gigantism is described. The main clinical features of this syndrome are macrocrania, accelerated skeleton maturation and somatic development, cranio-facial dysmorfism, psychomotor retardation in 80% of the cases. Less frequently other skeleton abnormalities associated with neurological and/or endocrinological disorders are reported. In our patient the typical features of the syndrome are accompanied by several neurological signs (mental retardtion, strabism, hypothonia, motor impairment, seizures, CT scan abnormalities) and ophtalmological changes as optic disk pallor. The above mentioned range of symptoms should be considered as a direct consequence of the primary defect which characterizes the Sotos' syndrome. In our case the cerebral nervous system seems to be more specifically involved. Besides, important behavioural difficulties have emerged with regard to the double relation mother-daughter and in the familiar environment as well. For this reason we emphasize the necessity of evaluating and clearing up all problems which often arise in connection with various pathological conditions in childhood. This should be done in order to grant the families an appropriate support.

[Lecithin therapy of hereditary ataxia]. / Terapia con lecitina nelle eredoatassie.

Eight patients with Friedreich's ataxia and eight others with syndrome of spino-cerebellar degeneration received oral lecithin (21 g daily) for a six-month period. No relevant clinical change was note either during or soon after treatment. Statistical analysis was also irrelevant in the total number of patients. Similar results emerged when grouping the patients at the stage of the illness (stage II in contrast with stage III-IV). The outcome of therapeutical trials in literature is discussed in comparison with results.

[A case of toxoplasma encephalitis in infancy]. / Considerazioni su un caso di encefalite toxoplasmica in età infantile.

Diffuse encephalitis occurred in a 2 year old girl, with activation of a chorioretinitis, which on clinical and serological grounds was taken to be caused by toxoplasma infection. The small patient presented clinically not only typical ocular lesions (bilateral chorioretinitis) but also neurological complications with status comatosus with some archaic reflexes, diffuse and marked hyperkinesis, right hemiparesis, and frequent epileptic seizures. The encephalitis and the acute ocular inflammation were partially resolved by treatment with spiramycin and cortisone. This is, presumably, an example of reactivation of congenital cerebral toxoplasmosis. A similar course of events was reported--as far as we know--in only two children.

Schwartz-Jampel syndrome with autosomal-dominant inheritance.

A 4-year follow-up study of 2 brothers affected by Schwartz-Jampel syndrome is reported. The children, aged 16 and 7 years, respectively, showed the clinical and electromyographical signs of the disorder. Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest in 3 other members of the same family. On the basis of our data, we suggest that inheritance of the Schwartz-Jampel syndrome may not only be recessive, as reported by most authors, but also dominant, with a different clinical expression.