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Biomedical subjects

E Boltshauser

Publications and source records attributed to E Boltshauser.

At least 163 records · Page 9Linked to original sources
PubMed1981

Limitations in the diagnosis of valvular dysfunction using the Rickham reservoir.

The majority of shunt dysfunctions can be easily diagnosed by puncturing the Rickham reservoir with a fine needle and estimating the intracranial pressure. Experience has, however, shown that definite shunt dysfunctions can be missed by this method. These limitations of the technique are better understood by constructing a model which enables us to simulate the pressure and flow situation in a ventricular drainage system. This experimental model has shown that in cases of partial proximal or distal blockage, the flow through the shunt system is significantly diminished but not totally stopped, and the pressure reading may thus be normal. In these cases, the shunt should be revised on the basis of clinical evidence of dysfunction.

Cerebrospinal Fluid Shunts↗
PubMed1980

[Traumatic juvenile paraplegia].

We describe the special features and complications connected with the acute phase and long-term course in 28 children with traumatic paraplegia seen for an average duration of 9 1/2 years. Recognition of spinal cord injury was delayed in a third of the cases due to skull and brain trauma and/or multiple injuries. There was subsequently a partial improvement in the neurological status of 7 of 23 children who were initially considered to have sustained complete paraplegia. The extent of independence, education, further training and social integration achieved is impressive and emphasizes the enormous significance of rehabilitation which is particularly complex and laborious in the case of paraplegic children.

Accidents, Traffic↗
PubMed1980

Hemiparesis--an uncommon symptom of hydrocephalus or shunt dysfunction.

We describe a boy with asymmetrical hydrocephalus in whom a marked hemiparesis of recent origin resolved completely following insertion of a shunt. In 2 children with shunted obstructive hydrocephalus due to a midline tumour a newly developed hemiparesis improved markedly in one and resolved in the other case subsequent to revision of a blocked shunt. A hemiparesis should therefore not necessarily be attributed to assumed progression of an underlying disease. Other unusual symptoms of hydrocephalus or shunt dysfunction reported in childhood as well as possible causes of hemiparesis in shunted patients are listed.

Brain Neoplasms↗
PubMed1980

Intracranial haemorrhage in the term infant confirmed by computed tomography.

In 8 singleton term infants and 1 postterm infant diagnosis of intracranial haemorrhage (ICH) was clinically established on the 2nd to the 12th day of life and subsequently confirmed by computed tomography (CT). Birth asphyxia was present in 1 infant only. 1 patient died, another developed progressing post-haemorrhagic hydrocephalus requiring a shunt. On follow-up at 2 1/2 to 30 months, psychomotor development was found to be normal in 6 children, mildly delayed in 1 and markedly delayed in another. On comparing our results of ICH in term infants to other published data on both term and preterm infants, we found that in both groups of patients ICH usually occurred within the first 7 days of life and that CT findings were often identical. Mortality rate of preterm babies with ICH was found to be 4.5 times higher than that of term babies while in surviving patients incidence of posthaemorrhagic hydrocephalus was approximately the same. Repeated lumbar punctures were shown to be therapeutically successful in some preterm infants with posthaemorrhagic hydrocephalus. We consider it worth while to use this approach in term infants, too, before placement of a shunt is considered. Etiologic factors and pathogenesis of ICH are briefly discussed at the end of the paper.

Cerebral Hemorrhage↗
PubMed1979

Myoclonic encephalopathy of infants or "dancing eyes syndrome". Report of 7 cases with long-term follow-up and review of the literature (cases with and without neuroblastoma).

We describe 7 children with myoclonic encephalopathy of infants (MEI). MEI is a clinical entity characterized by an acute or subacute onset of polymyoclonia, cerebellar ataxia and opsoclonus ("dancing eyes"). It occurs either spontaneously, following an infectiuos illness or in association with an occult neuroblastoma. It is likely that immunological factors play a role in the pathogenesis. Steroid therapy resulted in rapid dramatic improvement of the neurological symptoms in 4 cases. However, this initial response did not correlate with the eventual outcome. We reviewed the literature to compare 45 reported cases of MEI associated with a neuroblastoma with 48 children without such a tumor to identify possible differences in clinical presentation, response to steroid medication and long-term prognosis of the neurological syndrome. In this respect we found no differences. Impairment of motor, verbal or intellectual performance were reported in at least half the cases. Although an immediate and marked response to steroids occurs in many cases of both groups, it remains unclear whether the long-term outcome is favourably influenced by this medication. The two-year-survival rate (90%) in the neuroblastoma group and the percentage of mediastinal localisation of the tumor (49%) are much higher compared with neuroblastomas without MEI. The reasons for these remarkable differences are not known. Diagnostic, therapeutic and prognostic implications justify the separation of MEI from the more common and benign syndrome known as acute cerebellar ataxia of childhood.

Adrenocorticotropic Hormone↗
PubMed1979

Birth injury to the spinal cord.

11 cases of children with birth injury to the spinal cord born between 1960 and 1970 are presented in review and compared to about 200 previously published cases. 8 children presented at delivery with one or both feet and 2 with breech. 9 of these infants were born by difficult extraction and needed resuscitation due to primary asphyxia. One child had an easy vertex delivery without evident risk. Diagnosis was established within the first days of life, based on flaccid motor and sensory paralysis below a defined level, mostly in the cervical or upper thoracic spine, with bladder and bowel paralysis, and confirmed by autopsy or by follow-up study. One child with disruption of the spinal cord above C4 survived only a few hours despite artificial ventilation. 4 children died within the first three years of life, 3 of them due to acute pneumonia. 5 of 6 surviving children were followed regularly and are now 10 to 18 years old. They are ambulant with crutches and are well integrated in their families. 4 children attend normal school, and one girl gets special training for mentally retarded children.

Adolescent↗
PubMed1978

Klinefelter syndrome and neurological disease.

Six patients with Klinefelter syndrome (47,XXY) and different neurological disease are described. Essential tremor has been reported repeatedly but its significance deserves further studies. The prevalence of epilepsy with the Klinefelter syndrome is higher in comparison with the normal poplation, but it is not greater than expected in the population of a mental hospital. Therefore we suggest that the neurological symptoms with the Klinefelter syndrome should basically be regarded as coincidental findings not related to the chromosome abnormality.

Adolescent↗
PubMed1978

Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.

Necropsy findings are reported for a case of Joubert syndrome (familiar aplasia of cerebellar vermis with episodic hyperpnea, abnormal eye-movements, ataxia and retardation). The findings consisted of an almost total aplasia of the cerebellar vermis; dysplasias and numerous heterotopias of cerebellar nuclei; an almost total absence of pyramidal decussation; and anomalies in the structure of the inferior olivary nuclei, the descending trigeminal tract, solitary fascicle and of the dorsal column nuclei. The lesion resembled the Dandy-Walker malformation or simple aplasia of the cerebellar vermis in some of its aspects, but there were numerous others to set it apart--at least tentatively--as a distinct nosologic entity.

Cerebellar Ataxia↗
PubMed1978

[Diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness--an autosomal recessive syndrome (didmoad-syndrome) (author's transl)].

By reporting a further case attention is drawn to the autosomal recessive inherited DIDMOAD-syndrome. While diabetes mellitus and optic atrophy are easy to recognize, one often has specifically to look for deafness, diabetes insipidus and the frequently associated dilatation of the urinary tract. Awareness of this condition is important for genetic counselling and vocational guidance, and allows to avoid invasive neuroradiological investigations.

Child↗
PubMed1977

[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders].

Two patients aged 17 and 25 years with Kearns syndrome are described. This condition is characterized by the triad of chronic progressive external ophthalmoplegia, pigmentary degeneration of of the retina and cardiac conduction defects. A review of the literature reveals frequent association with other symptoms, mainly cerebellar ataxia, neurosensory hearing loss, small stature, muscle weakness, mental retardation or dementia and endocrine disturbances. In skeletal and extraocular muscle biopsies, abnormalities of mitochondria, at present of unknown significance, have been found. CSF protein is almost always increased. The etiology of this multisystem disorder remains obscure. The 58 published cases have been sporadic, with no evidence of hereditary transmission. The prognosis seems mainly to depend on the progressive cardiac conduction defects, since several patients have already died in the second or third decade due to heart block. Patients with progressive external ophthalmoplegia should be investigated for Kearns syndrome. If appropriate, implantation of a cardiac pacemaker should be considered.

Adolescent↗
PubMed1977

Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair.

The process of Giant Axonal Neuropathy (GAN) is not restricted to the peripheral nerves, but also involves the central nervous system. In a 25 year old man with normal hair, abundant axon swellings and spheroids were observed in the spinal cord, brain system, and cerebral cortex. The findings in the sural nerve have already been published by Boltshauser et al. (1977). Accumulations of filaments in the axons and in the perineural cells were accompanied by Rosenthal fibres. The ultrastructural pattern of GAN differs clearly from that of Neuroaxonal Dystrophies.

Adult↗