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Biomedical subjects

E Boltshauser

Publications and source records attributed to E Boltshauser.

At least 181 records · Page 10Linked to original sources
PubMed1977

Giant axonal neuropathy. Report of a case with normal hair.

A further case of giant axonal neuropathy is described. The diagnosis was made by sural nerve biopsy in a boy presenting signs of a progressive spinocerebellar syndrome with polyneuropathy. Ultrastructurally a severe abnormality of this peripheral nerve, with loss of thick myelinated nerve fibers and the presence of giant axonal swellings was evident. The axonal swellings appeared to be caused by an accumulation of filaments which were also present in Schwann cells, as well as in endothelial and perineurial cells, justifying the term of "generalized microfibrillar hyperplasia". It is most remarkable that the patient's hair was not unusual, in contrast to the previously reported cases who had "kinky hair".

Adult↗
PubMed1977

Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

A unique syndrome consisting of episodic hyperpnea, abnormal eye movements, ataxia and mental retardation, associated with agenesis of the cerebellar vermis, has been delineated in four siblings by Joubert et al. (1969). We describe three other children with this clinically recognizable condition which we suggest to call Joubert syndrome. There is good evidence that it is inherited as autosomal recessive. Two of out patients were brothers, the third child's parents were related. Recognition of this syndrome is important in view of prognosis and for genetic counseling.

Adolescent↗
PubMed1977

Impact of computerised axial tomography of the management of posterior fossa tumours in childhood.

Computerised axial tomography (CAT) has profoundly altered the management of most children with posterior fossa tumours. Fifty such children were operated on from October 1973 to December 1975, 20 of whom were explored after investigation by CAT only. Most recent experience suggests that CAT need by the only investigation in the majority of children suspected of having an expanding lesion in the posterior fossa.

Adolescent↗
PubMed1976

[Differential diagnosis of juvenile torticollis].

Torticollis in childhood may be a presenting symptom of many different disorders. The various etiologies of head tilt are briefly reviewed. Further investigations will depend on the patient's history as well as the local and neurological findings. Therapeutic problems are not discussed.

Atlanto-Occipital Joint↗
PubMed1976

Radiographic measurements of the normal spinal cord in childhood.

110 normal air myelograms of children were reviewed and the ratio of the spinal cord width to the subarachnoid space width (cord/SAS ratio) was calculated in the sagittal and transverse planes. This ratio proved to be independent of age and sex. The mean values at different vertebral levels are in close agreement with those previously reported for adults. The cord/sas ratio is helpful in evaluating changed cord dimensions, especially that of cord atrophy.

Adolescent↗
PubMed1976

Value of brain biopsy in neurodegenerative disease in childhood.

During the period 1968-1974, 45 children with suspected neurodegenerative syndromes underwent brain biopsy of the right frontal lobe. The histological examination was normal in 44% and nonspecifically abnormal in 43% of the specimens. In 13% a specific histological abnormality was found, namely 3 with spongy degeneration, 1 Alexander's leucodystrophy, 1 metachromatic leucodystrophy, and 1 pachygyria. Chemical analysis by thin-layer chromatography had little to offer in this series, being specifically abnormal only in the case of metachromatic leucodystrophy and nonspecifically abnormal in 6 cases. Postoperative generalized convulsions occurred in 3 children and a mild hemiparesis contralateral to the site of biopsy was noted in one patient. Comparing the outcome of the group having histologically normal biopsies with the group having nonspecifically abnormal ones it is concluded that frontal biopsy is not of such high prognostic value as has been claimed in previous reports. Some flexibility in the choice of the biopsy site is suggested. The specimens should be examined by chemical analysis as well as electron microscope in addition to the routine histological and histochemical methods. The neurodegenerative disorders of childhood which are at present identifiable in life only by brain biopsy are listed.

Adolescent↗
PubMed1976

Sturge-Weber syndrome with bilateral intracranial calcification.

Four children affected by Sturge-Weber syndrome and demonstrating bilateral intracranial calcification are described, bringing up to 21 the number of similar reported cases. The frequency of bilateral hemisphere involvement in this syndrome is not known, but it might be as high as 15%. If present, neurosurgical intervention is, in our opinion, contraindicated.

Adolescent↗
PubMed1975

[Triploidy as a cause of midtrimester gestosis(author's transl)].

The authors report a case of triploidy in a prematurely born child. The pregnancy was complicated by severe toxemia beginning during the second trimester and terminating in preeclampsia leading to cesarian section in the 33th week of gestation. The externally female child was underweight, hypotonic and asphyctic and died shortly after birth. She exhibited a complex brain malformation including excessive hydrocephaly, cebocephaly and aplasia of the piturary gland, and multiple dysmorphic signs. Autopsy revealed hypoplasia and dysplasia of the adrenal glands; no uterus, tubes and ovaries were present, but no testes were found. The placenta showed localized hydatidiform degeneration and was relatively large. The karyotype was 69,XXY, and with the aid of fluorescence markers, paternal origin of the additional haploid chromosome set was demonstrated. Typical findings in pregnancies with fetal triploidy are discussed and the possibility of prenatal diagnosis of triploidy by chromosome analysis in cultivated amniotic fluid cells is pointed out.

Abnormalities, Multiple↗
PubMedDate not supplied

MRI following severe perinatal asphyxia: preliminary experience.

In 30 children suffering from severe perinatal asphyxia an attempt was made to determine the early prognostic signs of severe hypoxic-ischemic brain injury with magnetic resonance imaging (MRI). Ten early (1-4 days of age), 16 intermediate (2-4 weeks of age), and 38 late MRI (older than 1 month of age) procedures were performed on a 2.35 T MR-system. Severe cerebral necrosis was suspected by T2 hyperintensity of the white matter, with blurred limits to the cortex in early MRI, and was confirmed by T1 hyperintensity of the cortex in intermediate MRI. Severe cerebral necrosis was established at 3 months of age. Of the 11 children with this pattern (group A), 8 had severe and 3 had moderate cerebral palsy on subsequent examination. Thirteen children (group B) had normal late MRI scans; none developed severe cerebral palsy or marked mental retardation. Two children (group C) had focal ischemic lesions. Four children had intracranial hemorrhage (group D). Groups A and B did not differ in the severity of their perinatal histories and findings, suggesting that MRI during the first 3 months is of significant prognostic value.

Asphyxia Neonatorum↗
PubMedDate not supplied

[Brain tumors in infants].

1975-87 there were 15 infants in the Childrens University Hospital of Zürich, cared for a brain tumor. In 3 cases the first symptoms were already present by birth. In our cases epileptic convulsions were the most common first manifestation of the tumor (40%). In most cases neither clinical symptoms nor EEG changes helped to localize the tumor. In one third of the cases the tumor was manifested with symptoms of increased intracranial pressure. In 11 children (73%) the tumor was localized supratentorially, in 3 cases in the cerebellum, in one case in the brainstem. 13 children were operated, without perioperative mortality. In 10 cases the tumor was radically extirpated, in 3 cases only a subtotal excision of the tumor was possible.

Brain↗
PubMedDate not supplied

[Blue rubber bleb nevus syndrome with CNS involvement].

We report a child with Blue Rubber Bleb Nevus Syndrome (BRBNS) and marked CNS-involvement and complex neurological impairment. Computed tomography showed intracerebral calcification and vascular malformations. The patient is microcephalic, his psychomotor development is delayed and he has a deficit of motor coordination and visual function. We know of only one report of a child with BRBNS and such CNS involvement.

Brain Neoplasms↗
PubMedDate not supplied

[Diagnostic procedure in neurodegenerative diseases with a chronic course].

In our view, diagnostic work-up in chronic neurometabolic disorders should depend on history, age and sex of the patient, and on particular clinical signs, which often have to be looked for specifically. The value of screening methods is briefly discussed. As regards special investigations emphasis is given on the value and limits of cranial computed tomography and on ultrastructural examination of skin and conjunctival biopsies.

Adrenoleukodystrophy↗
PubMedDate not supplied

MR imaging of brain maturation in normal and developmentally handicapped children.

White matter myelination was assessed in the frontal, temporal, and occipital lobes and in the internal capsule in 91 neurodevelopmentally handicapped infants on T2-weighted images (spin echo 3,000/120 ms) and compared with myelination scores from 53 normal control subjects. Clinical diagnosis was birth asphyxia (34), seizures with delays of various causes (33), congenital infections (15), and intracerebral hemorrhages (9). Myelination in the total group of patients was generally delayed. However, we found distinct differences in myelin deposition between groups. Myelination of handicapped children with seizures or with intrauterine infections was retarded most severely at all ages. Children with intracerebral hemorrhages were almost never significantly different from normals in any part of the brain, whereas children with birth asphyxia had myelination scores in between. We conclude that magnetic resonance staging of developmental processes, such as myelination, in the infants' brain helps to recognize delays at an early age.

Asphyxia Neonatorum↗
PubMedDate not supplied

Unusual presentations of neuroborreliosis (Lyme disease) in childhood.

Two children with atypical neuroborreliosis (cranial polyneuritis and acute transverse myelitis) are presented. The diagnosis was confirmed by the determination of specific antibodies against Borrelia burgdorferi in both serum and CSF. Neuroimaging findings were nonspecific, indicating, however, that neuroborreliosis should be included in the differential diagnosis of cases with cranial polyneuritis and acute transverse myelitis in childhood.

Antibodies, Bacterial↗