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Biomedical subjects

E Boltshauser

Publications and source records attributed to E Boltshauser.

At least 127 records · Page 7Linked to original sources
PubMed1988

[Childbirth in 2 patients with congenital analgesia].

Pregnancy and labour in two cases of congenital analgesia are reported. Not only was there total absence of labour pains but also no perception of uterine contractions. In both cases the women did not notice the onset of labour till the moment of spontaneous rupture of the membranes. Due to the absence of bearing down efforts, expulsion ceased for several hours in the second stage; nevertheless, delivery followed spontaneously. As the patient is unaware of labour, fetal asphyxia may occur during the second stage if the child is not under technical control. Stillborn children have been reported. For this reason we recommend programmed birth in cases of congenital analgesia.

Adult↗
PubMed1988

Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?

We report magnetic resonance imaging (MRI) findings in two obligate and four facultative carriers for the "classical" X-linked form of Pelizaeus-Merzbacher disease (PMD). In T2-weighted images MR revealed bilateral multiple areas with signal hyperintensity in the periventricular and subcortical white matter in five women. Until suitable and closely linked DNA probes are found for heterozygote determination, MRI may represent a suitable means for carrier detection in individuals at risk in PMD families.

Brain↗
PubMed1988

Short stature: a common feature in Duchenne muscular dystrophy.

In a retrospective growth evaluation, which included parental height, birth length and a longitudinal analysis of growth and bone maturation, it has been shown that short stature is a common finding in Duchenne muscular dystrophy already in an early or even preclinical stage. Normal length and weight at birth, slow subsequent growth with a curve crossing the centiles in the 1st years of life, and normal bone maturation are characteristic of this type of short stature.

Body Height↗
PubMed1988

[Bilateral occipital calcifications, optic atrophy and juvenile maculopathy: retrograde transsynaptic degeneration?].

The unusual combination of bilateral occipital calcification in the area of the calcarine fissure, optic atrophy and macular changes was seen in a four-year-old girl. Corrected visual acuity was R 0.1 and L 0.5. There was irregular concentric narrowing of the visual fields. The ERG was normal, but the latencies of visually evoked potentials were markedly prolonged. The course was nonprogressive over seven years. The pathogenesis of the occipital calcification remains unexplained; the authors tentatively attribute it to a prenatal or perinatal lesion. The optic atrophy is interpreted as a consequence of retrograde transsynaptic degeneration extending to retinal ganglion cells. It appears unlikely that the macular changes, consisting of discrete hyperpigmentations and depigmentations, are the result of loss of retinal nerve fibers. The independent occurrence of juvenile macular degeneration seems a more probable cause.

Brain Diseases↗
PubMed1988

Acrodermatitis chronica atrophicans.

Two cases of acrodermatitis chronica atrophicans associated with Borrelia burgdorferi infection are reported; to our knowledge these are the first cases reported in children.

Acrodermatitis↗
PubMed1988

Brain tumors in children with von Recklinghausen neurofibromatosis.

We determined the frequency of brain tumors in a series of 133 children (18 years of age or younger) with von Recklinghausen neurofibromatosis who were patients at the Children's Hospital of Zurich from 1971 to 1987. Twenty-four patients (18%) were found to have intraorbital or intracranial tumors. Twenty patients (15%) had an optic-pathway glioma (OPG), including 15 (11%) with only an OPG and 5 (4%) with both an OPG and a tumor in the posterior fossa or brainstem. Another 4 patients (3%) had a tumor outside of the optic pathways. In most cases, magnetic resonance imaging was superior to computerized tomography in demonstrating these lesions. The results of this survey are comparable to those of other published reports.

Adolescent↗
PubMed1988

[Magnetic resonance in pediatric research and clinical practice. II. Studies on the development and pathology of the brain in neonates, infants and young children].

We are investigating metabolism and morphological differentiation of the developing brain in neonates and children under non-invasive conditions combining MR imaging (MRI) with spectroscopy (MRS) on a high-field/small-bore (2.35 Tesla/40 cm) system. By the end of 1987, 116 neonates, infants and young children with various perinatal problems, congenital abnormalities and different neurological diseases have been examined with MRI. In addition, MRS studies were subsequently performed on 46 of these children using the same instrument and within the same session. The small, sometimes very sick and instable patients require careful monitoring and elaborate technical devices in the high magnetic field. We are presenting solutions for methodological and technical developments and adaptations, concepts for sedation and measurement protocols in various age groups and first results of the combined use of MRI and MRS to investigate the brain in neonates and infants.

Brain↗
PubMed1987

Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?

We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene.

Abnormalities, Multiple↗
PubMed1987

Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea).

Abnormal respiration with episodic tachypnea-apnea can occur in several syndromes (particularly, the Rett, Joubert, Mohr and Dandy-Walker syndromes). These syndromes are briefly reviewed. In the Rett syndrome, in contrast to in most other genetically determined syndromes, the onset of breathing abnormalities does not occur in the neonatal period.

Abnormalities, Multiple↗
PubMed1987

Computed tomography in Hallervorden-Spatz disease.

We report computed tomography (CT) findings of an autopsy-proven case of late-infantile Hallervorden-Spatz disease (HSD). The patient's symptoms started in preschool age with dystonic posture, leading shortly to complete loss of verbal communication and ambulation with marked torsion dystonia. She died aged 23 years. Cranial CT, performed at the age of 18 years, showed moderate infratentorial atrophy, but cortical cerebral atrophy, ventricular enlargement and caudate atrophy were all absent; there were symmetrical areas of increased density in the globus pallidus, and ironstaining pigment deposits at this site were confirmed post mortem. In the appropriate clinical setting such CT findings may be diagnostically helpful in the late-infantile form of HSD. However, experience with CT as well as with magnetic resonance imaging in HSD is still very limited.

Adult↗
PubMed1987

Prevalence of Rett syndrome in Switzerland.

In an extensive survey, 35 cases of Rett syndrome born in Switzerland were found. Only 5 probands were older than 20 years; the oldest subject was 37. The prevalence for 1967-1982 was 0.41/10,000 (= 1:24,600) girls. This is considered a minimum prevalence since complete ascertainment was not possible by this investigation. Prevalence figures from southern Sweden and west of Scotland are higher (approximately 1:15,000). Rett syndrome is apparently responsible for a considerable proportion of girls with neurodegenerative disorders.

Adolescent↗
PubMed1986

[Rett syndrome: a progressive neurological syndrome in girls].

Rett syndrome, named after Rett's first description in 1966, evolves typically in 3 stages: after normal early psychomotor development up to the age of 6-24 months, stagnation and regression occur over a few months resulting in severe dementia, loss of speech, of social response and of purposeful hand use. This is accompanied by particular stereotyped hand movements and usually also by deceleration of head growth. The further course is often stable for a prolonged period, or only slowly progressive. Common features are seizures, episodic hyperpnea, scoliosis, spasticity and vasomotor disturbances of lower limbs. Rett syndrome has been observed only in girls, all cases (with 2 exceptions) being sporadic. This is probably explained by a X-linked dominant new mutation lethal in males. The pathogenesis is still unknown: no consistent metabolic, morphologic or neuroradiologic abnormalities have been found. According to some epidemiologic investigations, Rett syndrome affects about 1:15,000 girls and is thus responsible for a considerable proportion of severely retarded girls. Within one year the authors have retrospectively diagnosed 15 cases, which is assumed to represent only about a third of patients in Switzerland.

Adolescent↗
PubMed1986

[Experience with percutaneous needle muscle biopsy in pediatrics: alternatives to open biopsy?].

Over 14 months the authors have performed 22 needle muscle biopsies using the Bergström needle. Sufficient material was obtained for histological, histochemical and electron microscopic examination. The biopsies can be done as an outpatient procedure under local anesthetic, and with sedation in infants and young children. The technique is safe, quick and well tolerated and leaves only a very small scar. It provides adequate information for almost all diagnostic purposes in neuromuscular disease. The few indications for open muscle biopsy are discussed.

Adolescent↗