Annelotte Vos

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We studied three siblings and one unrelated patient with cerebrotendinous xanthomatosis (CTX). Of two unrelated patients, we examined biopsies of sural nerve, soleus muscle, and achilles tendon. We also performed neurophysiologic investigations. Another patient died, and a postmortem examination of both brain and spinal cord was made. It was concluded that(More)
A case of an 11-year-old boy with an autosomal dominant form of paroxysmal kinesigenic choreoathetosis is presented. Routine EEG, sleep EEG recording, and registration of visual evoked potentials and somatosensory evoked potentials were normal. EEG with videomonitoring and registration of event-related potentials, however, showed abnormalities, which are(More)
Six patients (5 index cases and 1 sib) with a congenital motor and sensory neuropathy are described. The clinical, genetic and electrophysiological features resembled Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. Sural nerve biopsy of 5 patients revealed segmental demyelination and remyelination with hypertrophic(More)
We studied three unrelated infants and three adolescent siblings with Cockayne syndrome. The infants showed severe psychomotor retardation. Neurologic manifestations in the siblings were less severe and only slowly progressive. All patients had slowed peripheral nerve conduction. Nerve biopsies demonstrated segmental demyelination and remyelination in each(More)
Two women suffered from a similar, slowly progressive illness characterized by upper and lower motor neuron involvement, sensory disturbances, and neurogenic bladder. Radiographic examinations showed cerebral atrophy and, in one, changes on computerized tomography suggesting leukodystrophy. Sural nerve biopsies revealed axonal neuropathy associated with a(More)
Three children treated for appendicitis developed anuria and acute renal insufficiency several days after appendicectomy. Associated hydronephrosis or hydroureters were present in two. At cystoscopy, marked swelling of the trigonum and ureteric orifices was seen. One patient developed unilateral acute tubular necrosis, a complication not reported before.(More)
Refractive errors were induced in normal subjects by means of positive dioptre lenses to reduce visual acuity (VA) from an initial level of 20/20 to 20/100 and then to 20/200. Pattern electroretinograms (PERGs) and pattern visual evoked potentials (PVEPs) were simultaneously recorded at each of these 3 levels of VA using high contrast checkerboard stimuli(More)
BACKGROUND Intracranial internal carotid artery (iICA) calcification is associated with stroke and is often seen as a proxy of atherosclerosis of the intima. However, it was recently shown that these calcifications are predominantly located in the tunica media and internal elastic lamina (medial calcification). Intimal and medial calcifications are thought(More)
A 17-month-old boy with infantile globoid cell leukodystrophy is presented. The diagnosis was made by enzymic assay. Atypical features of his disease included a delayed onset at 12 months and a slow course. At the time of diagnostic evaluation, 5 months after onset, the usual features of opisthotonos posture, slowing of nerve conduction and marked elevation(More)