Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs.

We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.

Evaluation of cell-mediated and humoral immunity in children suffering from spinal muscular atrophy.

A study of certain parameters of cellular and humoral immunity of 56 children with spinal muscular atrophy (SMA), treated in Children's Memorial Hospital, was undertaken to explain the observed frequent and serious respiratory tract infections. The main differences between a group of patients and the control group were found in the serum IgA and IgM concentrations, a number of peripheral B cells, and in the response to skin tests. Among all the methods applied, the skin tests seem to provide the best information concerning the child immunity system. The observed abnormalities were almost parallel to the severity of the SMA course.

[Motor development in children with muscular dystrophy of the Duchenne type]. / Analiza rozwoju ruchowego dzieci z dystrofia miesniowa postepujaca typu Duchenne'a.

For determination of the age of onset and the age of immobilization in Duchenne's progressive muscular dystrophy the motor development was studied in 129 affected children. It was demonstrated that motor development was delayed and abnormal in 58% of the cases. On the average the affected children started to walk in the 19th month of life. According to the history data in 83% of the cases the age of onset of the disease was 1 year; in 10% of the cases the onset was placed before and in 7% after the 5th year of life. It was observed that earlier age of onset was not associated with a more rapid development of the disease and independently of the onset the age of immobilization was about 10 years. The results of investigation were compared with reports in the literature.

[Suspected pyruvate carboxylase deficiency in 4 children with Leigh disease]. / Podejrzenie deficytu karboksylazy pirogronianu u 4 dzieci z choroba Leigha.

Clinical observations and results of investigations of pyruvic acid metabolism are reported in 4 children in whom subacute necrotizing encephalomyelopathy of Leigh was diagnosed intravitally. Attention is called to the similarity of the clinical manifestations with its onset in the first year of life, deficient body weight and growth, progressing neurological disturbances (weakening of muscle power, tremor, ataxia, nystagmus), course with periods of exacerbations, tachypnoea, skin changes (hirsutism, telangiectasia, perspiration), death at the age of 2-3 years. The biochemical changes in all children included raised serum levels of lactic acid, pyruvic acid and alanine, and acid-base equilibrium disturbances with metabolic acidosis (relatively balanced respiratory alkalosis). The results of the test of intravenous loading with glucose and alanine carried out in all children indicated indirectly reduced activity of pyruvate carboxylase. In one child histological examination of the brain carried out postmortem confirmed the diagnosis of Leigh's disease.

[Central von Recklinghausen disease: report of a clinical case with multifocal symptoms and hydrocephalus due to stenosis of the aqueduct (author's transl)]. / Malattia di von Recklinghausen ad espressione "centrale": descrizione di un caso clinico con sintomatologia multifocale ed idrocefalo da stenosi dell'acquedotto di Silvio.

A case of von Recklinghausen disease is described in a boy aged 9 years, whose major manifestation was a severe progressive hydrocephalus due to aqueductal stenosis. Family history revealed an autosomal dominant mode of inheritance of the neurofibromatosis. Like other reports in the literature, our case suggests secundary aqueductal stenosis to gliosis typical of "central" forms of von Recklinghausen disease. It seems probable that aqueductal stenosis is dependent on periaqueductal gliosis.

Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.

A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).

[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.

MRI and CT evaluation of brain in neurofibromatosis. Case report.

Few MRI studies have been performed on subjects with Von Recklinghausen's neurofibromatosis. This not very well-known disease present lesions which in many cases do not appear on CT scans but may be detected by MRI. The nature of such lesions is still controversial. This paper will describe the case of a 7 year-old girl with neurofibromatosis. MRI examination revealed altered signals in some areas: in the basal nuclei, in the brainstem and in the white matter of the cerebellar hemispheres.

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.

[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.

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.