[Pediatrics and preventive pedodontics].
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Biomedical subjects
Publications and source records attributed to M Pierson.
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The authors attempt to justify the term cerebral tumour of primitive germinal origin from four of their own cases and a review of the literature. They emphasise the specific features. The tumours are more common in boys and involve the pineal, the walls of the third ventricle, the hypothalamus and the posterior pituitary. Several histological types may be distinguished by the degree of differentiation but the stromal reaction, which is partly responsible for the symptoms, is always present. The clinical course of the illness is biphasic. The first is manifest by endocrine disorders and is of relatively long duration. Water homeostasis is always affected and may be associated with other hypothalamic disorders. In the second phase, neurological symptoms and raised intracranial pressure appear. Surgical removal is not always possible, but radiotherapy improves the outlook.
In relation to a case of multiple fatigue fractures definitely diagnosed by scintigraphy and xerography, the authors report two other previous cases of spontaneous fractures at a single site in which the diagnosis was made only after surgical biopsy and histological examination. Recalling the frequent confusion arising in children between periosteal appositions and osteomyelitis or Ewing's sarcoma, and the different radiological phases of this type of fracture, they stress the necessity for a maximum effort to demonstrate the key element in the diagnosis: the cortical fissure. The latter is often minimal, at the limit of visibility and developing late. Thus repeated examinations and the use of special radiological techniques are necessary.
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The authors report two cases of infants with an XXYY chromosomal constitution. The anomaly was suspected in the presence of a particular facies associated with abnormalities of development of the external genitalia. The diagnosis was confirmed rapidly and easily by immunofluorescent study of buccal scrapings and polynu clear cells. Early diagnosis is a value with regard to family counselling.
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Five cases of a congenital neurological disorder are reported. Four patients, born after a breech delivery, belong to one sibship while the fifth patient is the only child in another family. The clinical features include quadriplegia, amyotrophy, a peripheral neuropathy, severe mental retardation and a subluxation of the hips. X-rays reveal diffuse osteoporosis and multiple spontaneous fractures. Autopsies in 3 patients showed multiple system atrophies involving the spinal cord and the cerebellum, coarse cerebral gyri and a marked reduction in volume of the white matter. These various pathological features are compared with the lesions found in a few other cases reported in the literature, none of which can be considered to be identical to the ones described. It is therefore felt that the condition under discussion represents a new syndrome to be classified, at least temporarily, within the group of multiple system atrophies.
A boy, suffering from severe mental and motor retardation, was found to be the carrier of an apparently balanced chromosomal rearrangement studied by autoradiography and fluorescence.
A hundred sera from children, were used to evaluate normal levels of somatomedin activity and pathological levels. The results showed that the level of this activity in the blood, rises gradually during infancy, to reach normal adult reference level by postulate, equal to 1. Although the values are widely dispersed in each sample, the general phenomenon of their increase in infancy remains significant. The patients with somatotropin deficiency, have very low somatomedin values which become normal under the influence of injection of human growth hormone. A very unusual case is that of Laron's dwarfism with very high values of HGH in the plasma, and very low levels of somatomedin and, clinical and laboratory indifference to injections of exogenous HGH. The prospects of progress in the techniques of study of somatomedin will be of great service in the near future.
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In the so-called "cat-eye" syndrome are associated the following malformations: coloboma iridis, anal atresia, pre-auricular fistullae with an extra 47th chromosome of the G group type. About twenty cases have already been reported. Some are familial cases and some have the complete phenotype but without the extra chromosome. Even if the structure of the material of this element is doubtful, its responsability in the phenotype is likely. This case is reported since the patient has pituitary dwarfism and normal intelligence.
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