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Biomedical subjects

U Flüeler

Publications and source records attributed to U Flüeler.

5 recordsLinked to original sources

Hemifacial spasm in infancy.

Three infants presented with the onset of hemifacial spasm after birth and at the age of 10 months. One patient was found to have occlusion of the straight sinus and large collateral veins at the base of the brain, presumably due to venous sinus thrombosis, supporting the concept of vascular compression of the facial nerve at its exit from the brain stem as a mechanism for the production of hemifacial spasm. The other patients each had an intrinsic mass compressing the fourth ventricle, located in the lower pons and extending into the cerebellar vermis and right cerebellar peduncle in one; in the other patient, the mass involved the cerebellar vermis and right middle cerebellar peduncle alone. These patients widen the etiologic spectrum of the syndrome and show that serious intracranial diseases may underlie hemifacial spasm in infancy.

Brain Neoplasms↗

[Fixation disorders in children with strabismus, cerebral palsy and epilepsy].

Seventy-five handicapped children with a severe deficiency of the fixation reflex are discussed. Fixation is never foveolar; instead, unsteady peripheral wandering is typical. Such children show large wandering deviations of the eyes. Vision is severely impaired and strabismus is present. The clinical picture is quite unmistakable and immediately suggests an underlying cerebral palsy with epilepsy. The findings and the consequences are discussed.

Adolescent↗

[Disease (Lyme disease) in pediatric patients in Switzerland caused by spirochetes (Borrelia burgdorferi) of Ixodes ricinus].

Lyme disease in children is studied in the light of questionnaires sent out twice to departments and divisions of pediatrics in Switzerland. Thirty-six serologically proven cases were collected. The 48 clinical signs attributed to Lyme disease involved the skin in 40%, the nervous system in 40%, and the joints in 20%. They were erythema chronicum migrans (13), lymphocytoma (4), acrodermatitis chronica atrophicans (2), peripheral facial palsy (14), sensomotor radiculoneuritis (2), meningoencephalitis (3) and arthritis (10, 7 of which were monoarthritic). Only half the patients had a history of tick-bite. Antibiotic therapy, usually with penicillin, reduced both the duration of symptoms and frequency of secondary disease. Cardiac involvement and chronic stages with residua were not observed in this series.

Adolescent↗

Iris hamartomata as diagnostic criterion in neurofibromatosis.

We have investigated a personal series of 90 patients with the ("classical") peripheral form of neurofibromatosis (NF) for iris hamartomata (IH). Of subjects aged 6 years or older, 97% had IH. IH were unilateral in 8 patients. IH were not found in 44 unaffected first degree relatives of patients with NF or in normal persons seen during the study period. We consider IH a reliable diagnostic criterion to be added to the list of diagnostic features. In childhood the incidence of IH exceeds that of cutaneous neurofibromas and axillary freckling.

Adolescent↗

Complete cryptophthalmos: case report with normal flash-VEP and ERG.

We report an infant with bilateral complete cryptophthalmos as part of Fraser Syndrome. Clinical examination and recordings of the electroretinogram and flash visual evoked potential showed a functional visual pathway at retinal and post-retinal levels. Anatomical considerations and the possible complications of surgery made reconstruction of the lids and palpebral fissures inappropriate.

Abnormalities, Multiple↗