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Biomedical subjects

E Boltshauser

Publications and source records attributed to E Boltshauser.

At least 91 records · Page 5Linked to original sources
PubMed1994

Prognostic value of early MR imaging in term infants with severe perinatal asphyxia.

The prognostic significance of magnetic resonance imaging (MRI) in the neonatal period was studied prospectively in 43 term infants with perinatal asphyxia. MRI was performed between 1 and 14 days after birth with a high field system (2.35 Tesla). Neurodevelopmental outcome was assessed by a standardized neurological examination and the Griffiths developmental test at a mean age of 18.9 months. The predictive value of the various MRI patterns was as follows: Severe diffuse brain injury (pattern AII+III; n = 7) and lesions of thalamus and basal ganglia (pattern C; n = 5) were strongly associated with poor outcome and greatly reduced head growth. Mild diffuse brain injury (pattern AI; n = 7), parasagittal lesions (B; n = 7), periventricular hyperintensity (D; n = 2), focal brain necrosis and hemorrhage (E; n = 3) and periventricular hypointense stripes (on T2-weighted images; F; n = 3) led in one third of the infants to minor neurological disturbances and mild developmental delay. Infants with normal MRI findings (G; n = 9) developed normally with the exception of one infant who was mildly delayed at 18 months. The results indicate that MRI examination during the first two weeks of life is of prognostic significance in term infants suffering from perinatal asphyxia. Severe hypoxic-ischemic brain lesions were associated highly significantly with poor neuro-developmental outcome, whereas infants with inconspicuous MRI developed normally.

Asphyxia Neonatorum↗
PubMed1994

Follow-up of optic pathway gliomas in children with neurofibromatosis type 1.

Optic pathway gliomas (OPG) are found in about 15% of patients with neurofibromatosis Type 1 (NF-1). The natural history of OPG is not yet well documented. Treatment in cases with growing tumors is still controversial. Twenty-one patients with NF-1 and OPG, diagnosed over a 20-year period, and followed neuroradiologically and ophthalmologically for at least two years, were reevaluated. The diagnosis of OPG was made at a mean age of 7.1 years (range 0-14.5 years); six children were asymptomatic, 15 were symptomatic. The mean follow-up was 9.0 years (2.0-18.5 (years). In eight initially operated or biopsied patients (three optic nerve and five chiasmal gliomas) tumor regrowth was found in one patient without progression on subsequent follow-up. Improvement of visual acuity occurred in one child after operation of a large suprasellar tumor and deterioration in one patient after biopsy of a chiasmal glioma. The neuroradiological follow-up of the 13 not-operated and not-radiated patients (four optic nerve and nine chiasmal gliomas) was stable in 10, progressive in three, resulting in visual loss in one patient. In 11 children (52%) a second tumor outside the optic pathway was found at a mean age of 4.0 years after the diagnosis of an OPG. Until now they are mostly asymptomatic. Second site tumors were operated in two children because of rapid tumor growth, one child died of a brainstem tumor. OPG are a frequent complication in children with NF-1, appearing within the first decade.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

Drug refractory epilepsy in brain damage: effect of dextromethorphan on EEG in four patients.

High doses of dextromethorphan (20-42 mg/kg/day) were given to four critically ill children with seizures and frequent epileptiform abnormalities in the EEG that were refractory to antiepileptic drugs. Their acute diseases (hypoxia, head trauma and hypoxia, neurodegenerative disease, hypoglycaemia) were thought to be due in part to N-methyl-D-aspartate (NMDA) receptor mediated processes. Treatment with dextromethorphan, an NMDA receptor antagonist, was started between 48 hours and 14 days after the critical incident. In three patients the EEG improved considerably within 48 hours and seizures ceased within 72 hours. In the patient with neurodegenerative disease the effect on the EEG was impressive, but the seizures were not controlled. Despite the improvement of the EEG the clinical outcome was poor in all children: three died in the critical period or due to the progressing disease; the patient with hypoglycaemia survived with severe neurological sequelae. Plasma concentrations of dextromethorphan varied between 74-1730 ng/ml and its metabolite dextrorphan varied between 349-3790 ng/ml. In one patient corresponding concentrations in CSF were lower than those in plasma. The suppression of epileptic discharges by the doses of dextromethorphan given suggests that such doses are sufficient to block NMDA receptors.

Adolescent↗
PubMed1993

Prenatal brain atrophy due to a giant vein of Galen malformation.

We report a full-term newborn girl with a giant vein of Galen malformation and extreme cerebral atrophy of prenatal origin. She presented on the 3rd day of life with intractable congestive heart failure. The diagnosis of the vascular malformation was confirmed by ultrasound and magnetic resonance imaging.

Atrophy↗
PubMed1993

Congenital hemiplegia: morphology of cerebral lesions and pathogenetic aspects from MRI.

We have analyzed the MRI findings from the brains of 33 children with congenital hemiplegia. Referral of these children to our hospital was either because of neurological problems or a history of complicated birth. According to maturation-dependent pathophysiological mechanisms we have classified the lesions into the following five groups: 1. malformations/prenatal encephalo-clastic lesions, 2. periventricular leukomalacia or atrophy, 3. diencephalic lesions, 4. subcortical and cortical lesions, and 5. normal findings. Combination of lesions was not uncommon. The neuroradiologically most prominent and most expanded lesions determined the classification to the different groups. We detected malformations/encephalo-clastic lesions (Group 1) in 5 children; one of these children also presented additional lesions of Groups 2 and 3. Six children displayed periventricular leukomalacia (Group 2), and in one child in combination with diencephalic and subcortical lesions. Ten children exhibited diencephalic lesions (Group 3), in one case combined with periventricular leukomalacia. The MRI of seven children showed subcortical/cortical lesions (Group 4), in four cases extending into diencephalic structures. Two children had a combination of evenly matched periventricular, diencephalic and subcortical/cortical lesions, where it was impossible to define a principal lesion. Three children had normal MRI findings. Significantly, 8 of 33 children had bilateral lesions although presenting with hemiplegia. The large proportion of diencephalic lesions, not described in similar CT studies, and the small number of normal MRI findings show the value of MRI in evaluation of congenital hemiplegia. The ability to correlate, to some extent, neuroradiological findings of damage to developmental stage affords the conclusion that at least a third of the children in our series with congenital hemiplegia suffered prenatal damage.

Brain↗
PubMed1993

[Measuring vibration sense in childhood. Normal values and initial experiences in polyneuropathies].

BACKGROUND: We have attempted to obtain normal values for vibration thresholds in children and to evaluate their application in polyneuropathies. METHODS: Vibration thresholds determinations were made by means of a handheld vibrameter (Fa Somedic AB Sweden): Within a constant frequency (100 Hz) and a calibrated pressure (450 g) the amplitude ranged variably from 0.01 to 399 microns. Measurements were made at three sites (carpal, tibial and tarsal). Vibration threshold (VT) was determined by the average of Vibration Perception Threshold (VPT) and Vibration Disappearance Threshold (VDT). RESULTS: Reference values obtained from 106 children and adolescents (control group), 5.5 to 19 years of age, correlated with age but not with sex. The amplitude of VT-values ranged from 0.4 microns (carpal at 6 years), to 1.10 microns (tarsal at 18 years). Patients with Friedreich's ataxia (n = 7) or hereditary motosensory neuropathy (n = 11) showed strongly increased thresholds at all sites up to a factor of 100. CONCLUSIONS: The examination by means of a vibrameter took at least 10 min, the shorter examination by tuning fork however showed to be less sensitive and rather inexact. An examination with a vibrameter is, as rule, reliably possible in children older than 5 years.

Adolescent↗
PubMed1992

[Molecular genetics diagnosis of Steinert's myotonic dystrophy].

Myotonic dystrophy (DM) is the most common neuromuscular disease with adult onset (incidence 1 in 8000). The biochemical basis of this autosomal dominantly inherited disease is still unknown. The most striking features are myotonia and progressive muscular wasting. There is high variability of disease severity in patients from different families, but also within the same family. For practical reasons three subtypes can be defined: The classical adult onset form of the disease, a mild form with late onset and/or very moderate symptoms, eg. cataracts only, and the most severe congenital form which is transmitted by affected females. Furthermore, the progression of DM in affected families may exhibit an increase in the severity of the disease in successive generations. This observation is called anticipation. Very recently the DM gene has been cloned and an unstable DNA sequence specific for the disease has been characterized. Detection of an enlarged DNA fragment due to the expansion of a trinucleotide (CTG) repeat within the DM gene can be used for direct DNA diagnosis in affected individuals and persons at risk. Furthermore, there is a strong correlation between the length of fragment expansion and the degree of disease severity in gene carriers. We report here our preliminary results of the investigation of over 70 patients and demonstrate the clinical usefulness of this new method by the findings in three families.

Adult↗
PubMed1992

Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes.

In a retrospective study, peripheral blood mononuclear cells from 13 patients with known ataxia telangiectasia (AT) (Louis Bar syndrome, McKusick #20890) were irradiated with different doses of X-rays prior to stimulation with phytohaemagglutinin. Mitogen response and cell cycle progression were assessed by two-parameter 5-bromo-2'-deoxyuridine/Hoechst--ethidium bromide flow cytometry. Compared to age-matched controls, AT cells show a severely defective mitogen response in both unirradiated and irradiated cells. Following irradiation with 1.5 Gy, AT cells exhibit significantly greater accumulations of cells in the G2 phase of the first cell cycle than controls. The ratio between the number of cells accumulated in the first cycle G2 phase and the growth fraction provides a clear distinction between AT and control cultures. In addition, two patients with microcephaly, normal intelligence, immunodeficiency, chromosomal instability and risk for lymphoreticular malignancies (Seemanová syndrome) and two patients with the Nijmegen breakage syndrome (both syndromes are listed as McKusick #25126) also exhibit very poor mitogen response and moderately increased G2 phase accumulations after X-irradiation. The simultaneous assessment of radiosensitivity and mitogen response in a single cell kinetic assay provides a speedy and accurate classification of cells of AT and AT-related syndromes.

Adolescent↗
PubMed1992

Cortical visual impairment following bacterial meningitis: magnetic resonance imaging and visual evoked potentials findings in two cases.

Cortical visual impairment (CVI) following bacterial meningitis is a very uncommon complication. Two children with CVI following bacterial meningitis are reported. Bacterial agents were Haemophilus influenzae type B in one and meningococci in the other child. Both children showed only insufficient recovery from CVI, mental retardation and residual neurological symptoms. Flash visual evoked potentials (VEP) showed preserved cortical response at onset of CVI. Re-evaluations several months later showed significantly reduced amplitudes, but normal latencies for P100. Thus, flash VEP does not allow prediction of visual outcome. MRI results have not been reported before. MRI at onset of diagnosis showed occipital parenchymal irregularities with enlarged sulci and subarachnoid spaces. Follow up MRI 15 months after onset of CVI in one patient showed marked atrophy of the occipital cortex, hyperintensities of the cortical white matter and no visible optic radiation. The MRI findings indicate hypoxic-ischaemic lesions in the border zone between the distribution of the great cerebral arteries.

Blindness↗
PubMed1992

Myelination of the optic radiation in Leber congenital amaurosis.

We have studied the myelination of the visual pathway by magnetic resonance imaging in seven children (aged 5 months to 16 years) with Leber congenital amaurosis. The corpus geniculatum laterale and the retrogeniculate optic radiation had a normal appearance on MRI in all patients. Therefore we conclude that normal myelination of the optic radiation, as it can be grossly assessed by MRI, can take place even with absent or greatly reduced visual sensory input.

Adolescent↗
PubMed1992

[Diagnostic imaging of the brain of blind and visually handicapped young children].

In infants with delayed or absent visual maturation a neuroradiological investigation of the brain is commonly performed in addition to neurophysiological examinations. We report our preliminary experience with magnetic resonance imaging (MRI). MRI allows a detailed anatomical assessment and an evaluation of the myelination, including the optic radiation. Following severe perinatal hypoxic-ischemic injury periventricular leukomalacia in the parieto-occipital region was a common finding. The findings in infants with or without ocular abnormalities were heterogeneous, including normal findings, nonspecific delays of cerebral myelination as well as several malformations (such as corpus callosum hypoplasia, Aicardi syndrome, septo-optic dysplasia, migration disorders). In the individual case the neuroradiological findings do not allow to draw conclusions to the visual function and prognosis. In children with Leber congenital retinal amaurosis we have observed a normal myelination of the optic radiation. In many cases, particularly if a syndromic diagnosis is reached, neuro-imaging gives useful information for prognostic and genetic counselling.

Blindness↗
PubMed1992

[Congenital oculomotor apraxia. Presentation--developmental problems--differential diagnosis].

Congenital oculomotor apraxia (COMA) was initially defined by Cogan in 1952. In this condition voluntary horizontal saccades cannot be generated, while slow horizontal pursuit movements and vertical eye movements are intact. Affected infants usually present with delayed visual and/or psychomotor development or may even appear to be blind. In the second half of the first year "compensatory" head thrust movements become apparent. While the oculomotor abnormalities tend to improve with increasing age most affected children have delayed motor and speech development. The cognitive development is commonly impaired and many children require a special scholastic education. In our personal series of 9 children we have found variable and nonspecific neuroradiological findings, including cerebellar hypoplasia, hypoplasia of corpus callosum and grey matter heterotopias. COMA has to be differentiated from acquired forms of ocular apraxia as seen in Morbus Gaucher type 3, ataxia teleangiectasia and Morbus Leigh.

Adolescent↗
PubMed1992

[Visual milestones and child development].

Frequently, the milestones of visual development are the only available parameter of visual functions in newborns and small infants. The subscale eye-hand-coordination of Griffith's Developmental Test and some single items of visuo-motor functions were assessed concerning their first occurrence in healthy AGA term and preterm infants. Term and preterm infants differed constantly, but not significantly, in favour of the term children. No sex differences could be documented. Neurologic optimality score showed significant correlations with development of visual milestones. The Griffiths subscore at 9 and 24 months showed good correlations with later cognitive functions.

Child Development↗
PubMed1992

Symmetrical thalamic lesions in infants.

Clinical observations and findings on imaging are reported in six newborns with symmetrical thalamic lesions (STL). In three cases the diagnosis was confirmed by postmortem examination. Characteristic observations in this series and 17 previously reported cases include no evidence of perinatal asphyxia, high incidence of polyhydramnios, absent suck and swallow, absent primitive reflexes, appreciable spasticity at or within days of birth, lack of psychomotor development, and death within days or months. Characteristic pathological findings include loss of neurons, astrogliosis, and 'incrusted' neurons particularly in the thalamus. In two thirds of cases the basal ganglia and brain stem are involved as well. A hypoxic-ischaemic event occurring two to four weeks before birth is most likely responsible for STL. Bilateral thalamic calcification can often, but not always, be demonstrated in the newborn period by computed tomography and/or cranial ultrasound. The presence of these calcifications and the observation of spasticity at birth imply that the responsible insult occurred at least two to four weeks earlier. The small number of published cases with STL suggest that it may be easily missed.

Adult↗
PubMed1991

[Neurofibromatosis Type 1: genetic studies with DNA markers in 38 families].

To establish preclinical DNA-diagnosis of neurofibromatosis type 1 (NF1) in familial cases we have investigated 38 families segregating for the disease. The families were tested with 6 polymorphic DNA markers from the chromosome region 17p11.1-q11.2. Two-thirds of the families were informative for flanking markers. An informative situation was achieved for 33 out of 40 individuals at risk (i.e. first degree relatives): 30 cases were diagnosed as noncarriers of the mutated gene, and three clinically normal individuals (including an adult and two children aged three and six respectively) were found to carry the risk haplotype. The remaining 7 persons at risk could not be typed unequivocally due to non-informative markers or recombination events. In 5 families with healthy grandparents the origin of the mutation could be traced back to the grandfather's germ cells. Despite the recent cloning and initial characterization of parts of NF1 gene, studies using linked and eventually intragenic DNA markers will continue to be of great value for genetic counselling. Such analyses allow highly accurate preclinical and prenatal diagnosis in close relatives of familial cases.

Adolescent↗
PubMed1991

[The classification of atypical forms of neurofibromatosis].

Neurofibromatosis (NF) represents not an entity but a group of several forms which differ as to symptoms, prognosis and inheritance. In 1982 Riccardi suggested a classification into eight categories. Two of these--Von Recklinghausen NF-1 and bilateral acoustic NF-2- were defined in 1987 by a National Institutes of Health Consensus Development Conference. We describe 13 patients whose symptoms do not fit the diagnostic criteria for NF-1 and NF-2. 6 subjects can be classified as segmental NF-V. One of these patients was remarkable in having iris hamartomata, while his daughter was affected with NF-1. Another (female) patient in this group had areolar freckling, a finding not yet reported in NF patients. 4 cases belong to the late-onset NF-VII category, 3 of whom developed a neurofibrosarcoma. Two subjects are fist-degree relatives (mother and son). We are not aware of familial occurrence of NF-VII. Two further subjects were assigned to the variant form of NF, NF-IV. One patient had symptoms similar to NF-2 but the minimal diagnostic criteria were not fulfilled. Nevertheless, we consider his classification as NF-2 in view of a pattern of intracranial calcification repeatedly and exclusively found in NF-2. In general, assignment to a category of NF is important for appropriate patient management and genetic counselling. Classification of individual patients may be arbitrary at the time.

Adolescent↗
PubMed1991

MR imaging of intracranial hemorrhage in neonates and infants at 2.35 Tesla.

The variations of the relative signal intensity and the time dependent changing contrast of intracranial hemorrhages on high-field spin-echo magnetic resonance images (MRI) were studied in 28 pediatric patients. For T1-weighted images, a repetition time (TR) of 500 ms and an echo time (TE) of 30 or 23 ms was used. The corresponding times for T2-weighted images were TR 3000 ms and TE 120 ms. Intracranial hematomas, less than 3 days old, were iso- to mildly hypointense on short TR/TE scans and markedly hypointense on long TR/TE scans (acute stage). In the following four days the signal of the hematomas became hyperintense on short TR/TE scans, beginning in the periphery and proceeding towards the center. On long TR/TE scans the signal remained markedly hypointense (early subacute stage). 7-14 days old hematomas were of high signal intensity on short TR/TE scans. On long TR/TE scans they appeared hypointense in the center and hyperintense in the periphery (late subacute stage). By the end of the second week the hematomas were of high signal intensity on all pulse sequences (chronic stage). Chronic hematomas were surrounded by a parenchymal rim of hypointensity on long TR/TE scans. 28 neonates and infants (with 11 follow-up examinations) of 31.5-70.6 weeks postconceptional age (PCA), with an intracranial hemorrhage were examined. The etiologies of the hemorrhages were: asphyxia (17 cases), brain infarct (2), thrombocytopenia (1), clotting disorder (1) and unknown origin (7). The aim of this study was to describe the appearance of intracranial hemorrhages in neonates and infants with MRI at 2.35 Tesla using spine-cho sequences.

Acute Disease↗