Neuropadiatrie最新文献

One fetus at risk for Sanfilippo A disease was found to be affected by assaying heparan sulfate sulfamidase in cultured amniotic cells, and, after abortion, in cultured skin fibroblasts. Morphologically, cells from placenta, visceral organs and fibroblasts contained large amounts of electron-lucent vacuoles. Limited amounts of inclusions with lamellar profiles were found in the neurons. As no similar lesions were discovered in control cases, their presence in this fetus was considered as significant, indicating an early involvement of the central nervous system. We compared our findings with those of other pre- and postnatal proven cases of Sanfilippo disease (mucopolysaccharidosis III).

60 premature and newborn infants with clinical evidence of hypoxia or traumatic encephalopathy were examined by cranial computerized tomography (CCT) during the first fortnight of life and their findings compared with those of a "control group", consisting of 7 infants with malformations. 48 patients showed pathologic findings in the initial CCT. With regard to type, topography and extension, two groups with two subgroups could be outlined: 1. lesions with low density due to hypoxic-necrotizing alterations. a) Bilateral in the white matter around the frontal and occipital horns of the lateral ventricles in both, premature and fullterm newborn infants. b) Corresponding to vascular distribution, focal or global, involving both gray and white matter in both, premature and newborn infants. 2. lesions with high density due to hemorrhages. a) Subependymal and intraventricular, mainly in asphyxiated premature infants. b) Subdural and intracerebral, probably of traumatic origin, involving premature and fullterm newborn infants. The morphological findings in the initial CCT were compared with the outcome in each case. Thus, it was possible to distinguish certain morphological patterns significantly associated with prognosis. 14 patients (23.3%) died in the newborn period. The surviving 46 children (76.7%) were at least once re-examined by CCT and followed up during 6-24 months. 16 patients (26.7%) had a normal development. 12 (20%) showed developmental retardation. 18 (30%) suffered from neurological sequela. Frequently the early follow-up CCT showed characteristic patterns. We believe, that the great number of pathologic findings with essential information warrant the application of CCT in premature and fullterm newborn infants with persistent neurological signs. Perhaps our CCT observations will lead to the consequence of a more controlled high care regimen.

Eleven preschool children with febrile convulsions or epilepsy were started on phenobarbital. Before treatment was started and at regular intervals after the onset of medication up to one year psychological tests were applied and the behaviour of the children analyzed. The plasma levels of phenobarbital were recorded. A transient deterioration of fine motor functions and behavioural disturbances were found in most children during the first weeks and months. The problems subsided thereafter and at one year follow up the drug-induced changes had disappeared. The need for extended studies is underlined.

We investigated 161 children under 24 months of age by CT of the skull and reviewed the anamnestic and clinical history. 87 children showed subdural effusions, and 74 did not. There were 33 patients with other pathological findings in CT, and 41 had normal scans. Age and sex distribution as well as localization of the subdural effusions were consistent with the literature. The 87 children with subdural effusions represented 1.7% in a sample of about 5.000 CT scans. CT was the most reliable method for diagnosis of subdural effusions, compared to other techniques. There was a preponderance of small subdural effusions from 1 to 7 mm thickness (51%). Other CT abnormalities accompanying subdural effusions were found. Most frequently the interhemispheric sulcus was dilated and an internal hydrocephalus was present. Also in our group there were 7 anamnestical and 6 clinical symptoms highly diagnostic of subdural effusions.

The auditory brainstem response (ABR) yields information on both the neurological and the audiological status of infants, children and adults. We have developed a procedure for extracting each type of information for separate study and we have applied it on 120 prematures and babies (28 to 42 weeks gestation age) in an intensive care unit.

A 2 year-old non-Jewish boy had muscle hypertonia, a black cherry spot, dementia, and seizures. His skin biopsy showed membranous cytoplasmic bodies in axonal terminals and zebra body-like inclusions in Schwann cells. Biochemically, a deficiency of Hex A and two separate Hex B peaks indicated a type 1 (B variant, Tay Sachs) like subvariant of GM2-gangliosidosis.

Forty cases of complicated migraine (c.m.) were analysed. The onset was before the age of 16 years, in the majority, however, after the 10th year. In 20 patients the first crisis of c.m. occurred in the absence of a previous history of migraine. 38 of the children had paresthesia during the crises, localized mostly to one hemisoma or a part thereof, in 3 bilateral from the beginning. In the majority of these patients the same hemisoma was always affected, the upper limb almost always. The preferred localisation of paresthesia in the face were the mouth and/or the tongue. A progression of paresthesia with a "march" of several minutes duration was frequent. In 5 children a paresis occurred, mostly at the upper part of one hemisoma, in another 4 children hemiplegia was present. In several cases signs of brainstem lesion occurred. Headache was mostly localized on the opposite side to the neurological signs. Vomiting and scotoma were frequent. In EEG done during the periods of crisis anomalies were demonstrated in the majority of our patients with a predominance of diffuse or focal slowing. In our patients there was a spontaneous tendency for c.m. to disappear upon reaching adult age. None of our 25 patients who had a neurological examination at the last check-up has shown residual deficits.