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Biomedical subjects

C A Haenggeli

Publications and source records attributed to C A Haenggeli.

34 records · Page 2Linked to original sources

[Tumors of aqueduct of Sylvius. Presentation of 5 cases and review of the literature].

The authors reports their experience of 5 cases of intra- and peri-aqueductal tumors. With the exception of 1 case, a subependymoma of the aqueduct discovered at autopsy in a 77 year old woman, the 4 other patients (2 females and 2 males) are relatively young (respectively 14, 23, 14 and 26) at the time when they presented with signs of chronically raised intracranial pressure due to a triventricular hydrocephalus. One patient presented with a partial Parinaud's sign, but the focal and long tract signs were conspicuously absent in the other patients. The diagnosis of a space occupying lesion in the tectum mesencephali or in the aqueduct could only be ascertained with the recent use of M.R.I. The radiological work-up of the cases suggest that theses lesions, presumably of glial origin, are very slowly growing tumors. Four patients have been treated for their symptomatic hydrocephalus, but no treatment of the tumor has been proposed, as the clinical state and the images remain remarkably stable. (Mean duration of follow up from the time of shunting = 3.7 years, extremes = 1.5-8 years). A review of the literature shows that not more than 48 cases of tumors of the aqueduct have been reported. Because of the small number of such observations, there are, until now, no precise informations on the management of such cases to decide if the patient will benefit of an open or stereotactic biopsy associated with radiotherapy or if one can rely on serial clinical and radiological examinations. Further information on the long term follow up is needed.

Adolescent↗

Connatal Pelizaeus-Merzbacher disease.

Type II connatal Pelizaeus-Merzbacher disease is a degenerative disease of the developing nervous system. Confirmation of diagnosis is only by histopathological examination at present. The authors describe an infant with several clinical features which are apparently unique to this disease. These features may allow a presumptive clinical diagnosis to be made in other cases, thereby allowing valuable genetic counselling to be given before the death of the affected infant enables confirmation by autopsy.

Brain↗

[Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?].

Two brothers are described with a severe syndrome of postnatal growth and mental retardation which includes extreme microcephaly, obesity developing during infancy, microgonadismsm, and a characteristic amphora-shaped facies. The neurological exam is highly abnormal, with hypertonia and hyperreflexia, nystagmus, and an extremely irritable and agitated behavior. The first child, who died at 4/1/2 years, also presented neonatal hypoglycemia and chronic constipation. Although the etiology of this syndrome is unknown, it is tempting to consider an X-linked recessive gene, given the importance of the X chromosome in mental retardation. Among the over 70 syndromes of X-linked mental retardation already described, our patients resemble individuals with the Börjeson-Forssman-Lehmann (BFL) syndrome the most. However, the severity of their dwarfism and mental retardation is much greater than described in any BFL patient to date, and the neurological and dysmorphic features vary significantly from those described in the BFL. Although a particularly severe variant, perhaps allelic, is a possibility, an as yet undescribed disorder is also plausible, the etiology of which would probably be recessive, either autosomal or X-linked.

Brain↗

[The epileptic child and participation in sports].

Sports are very important to young people, and the physical and psychological benefits of athletic activities are well known. A majority of epileptic children are able to participate in sports and physical education and have to be encouraged to take part in these activities. The risks involved are minimal, and only few sports and exercises have to be avoided. A well documented danger of drowning exists while swimming, and proper supervision is mandatory.

Child↗

Pterins in patients with Rett syndrome.

We have found normal concentrations of neopterin, monapterin, isoxanthopterin, biopterin and pterin in the urine of 10 patients with Rett syndrome, and normal values for total biopterin and neopterin in the blood of 4 subjects. Thus, there is no biochemical evidence of a generalized tetrahydrobiopterin deficiency in this syndrome. Since we had no opportunity so far to study cerebrospinal fluid, a defect in the metabolism of pterins in the central nervous system is not yet fully excluded.

Adolescent↗

Congenital horizontal gaze paralysis and ear dysplasia--a syndrome.

A 9-year-old boy with cyanotic congenital heart disease demonstrated congenital horizontal gaze paralysis and dysplasia of the left external and middle ear. Another patient associating congenital horizontal gaze paralysis and left hemifacial atrophy including ear dysplasia had previously been reported. The coincidence of such rare dysgenetic phenomena as congenital horizontal gaze paralysis and ear dysplasia in 2 patients seems to be significant. Since patients with congenital horizontal gaze paralysis often replace lateral gaze by convergence spasms, gaze paralysis sometimes remains undiagnosed. Therefore, when ocular motor disturbance is associated with ear dysplasia, the possibility of congenital horizontal gaze paralysis should be considered.

Abnormalities, Multiple↗

Computed tomography in white-matter disease.

CT scans of 11 patients with proved white-matter disease were reviewed and divided into three categories. The demyelinating (secondary) and diffuse sclerosis groups frequently exhibited abnormal intravenous enhancement and mass shift. This made differentiation from inflammatory and neoplastic processes difficult. In the dysmyelinating disorders, pathologically noted diffuse loss of white matter and absence of inflammatory response appeared on the scans as areas of diffuse and decreased density in the centrum semiovale. There was no evidence of abnormal contrast enhancement.

Adult↗

Brachial plexus injury and hypoglossal paralysis.

Two neonates born after traumatic deliveries presented with injuries of the upper brachial plexus and ipsilateral hypoglossal nerve. In addition, 1 patient presented with paresis of the diaphragm after breech delivery; the other patient presented with signs of recurrent laryngeal nerve involvement after vertex delivery. Both infants recovered spontaneously.

Birth Injuries↗

Single unit activity in the inferior colliculus of the rat elicited by electrical stimulation of the cochlea.

The activity of single neurons (n = 182) of the central nucleus of the inferior colliculus (CIC) of the rat was recorded in response to unilateral electrical stimulation of the left cochlea and/or acoustical stimulation of the right ear. The probability of response to both modes of stimulation was comparable (90 per cent for contralateral and 60 per cent for ipsilateral presentation). Response patterns consisted predominantly of onset excitations. Response latencies to electrical stimuli ranged from 3 to 21 ms, with an average value of 9.7 ms (SD = 3.5 ms) in the ipsilateral CIC and 6.6 ms (SD = 3.4 ms) in the contralateral CIC. With respect to binaural inputs, the majority of units were excited by stimulation of either ear (EE; about 60 per cent) while about one third were influenced by one ear only (EO). Units excited by one ear and inhibited by the other (EI) were rare. The main difference between the present implanted rats and normal animals was the virtual absence here of inhibitory effects for both types of stimuli when they were delivered to the ipsilateral ear (very few EI units).

Acoustic Stimulation↗