Biomedical subjects
Publications and source records attributed to C H Wulff.
A case of X-linked recessive bulbospinal neuronopathy is reported. Neurophysiological findings were consistent with chronic partial denervation (motor axonopathy) and large fibre sensory axonopathy. DNA analysis showed an abnormal increased size of tandem CAG repeats.
Serum clozapine (S-Cloza) and serum desmethyl-clozapine concentrations (S-Descloza) were measured in 30 chronic schizophrenic in- and out-patients on a variable dose regimen. All patients were in steady state with respect to clozapine therapy and in a stable condition with respect to psychotic illness. The 24-h clozapine dose (median with interquartile range in parenthesis) was 350 (228-425) mg/24 h (range 100-700). There was a weak positive correlation between doses and the BPRS total score (r = 0.44, P < 0.05). The median S-Cloza was 1076 (706-1882) nmol/l (range 196-5581 corresponding to 64-1824 ng/ml). The S-Cloza was linearly correlated to dose but with a high interindividual variation at equal doses, e.g. a factor of 8 at 400 mg/24 h, but a low intraindividual variability of 20%. The S-Descloza averaged 77% of the S-Cloza and was highly correlated to S-Cloza (r = 0.90; P < 0.001). The S-Descloza/dose ratio increased with age and duration of treatment. The side effects registered were EEG abnormalities (83%), tachycardia (23%), increased liver enzyme activity (60%), orthostatic hypotension (17%), and moderate leucocytosis (17%). Only EEG changes were correlated to S-Cloza (r = 0.43; P < 0.05). The score values of the UKU Side Effect Scale were weakly (r = 0.36) correlated to S-Cloza. No side effects were correlated to S-Descloza, doses, or treatment duration. The frequency of side effects was higher than in studies using lower mean doses indicating a correlation between doses or S-Cloza and the frequency of side effects. It is concluded that clozapine fulfils the criteria for therapeutic drug monitoring. TDM may contribute to finding the lowest effective dose with the fewest possible side effects.
We examined 8 men with X-linked recessive bulbospinal neuronopathy. Quantitative electromyography showed large amplitude motor unit action potentials of prolonged duration and increased polyphasia. There was a pronounced loss of motor units in all but one muscle at maximal volition even in muscles with normal or only mildly decreased force. Denervation activity was present in 53% sampled limb muscles, and fasciculation was recorded in 33% of limb muscles. Nerve conduction studies showed small amplitude sensory action potentials in 6 out of 8 patients. The motor and sensory conduction velocity was normal or borderline slow. The electrophysiologic findings were consistent with chronic partial denervation (motor axonopathy) combined with large fibre sensory axonopathy.
Two infants, one girl, 5 months old, and one boy, 6 months old, presented with rhythmic and sustained motor activities of a stereotyped nature accompanied by moaning and grunting, facial flushing and altered awareness. The episodes occurred frequently and were initially believed to be epileptic. Normal electroencephalograms during the fits, lack of response to antiepileptic medication given to one child and careful reviewing of videotape recordings, enabled us eventually to diagnose the 'seizure-like' episodes as masturbatory activity.
Treatment with nasal continuous positive airway pressure (CPAP) was attempted in a patient with severe obstructive sleep apnea. However, application of nasal CPAP gave the patient a feeling of being suffocated. This was later documented by cine-fluoroscopic examinations of the upper airways with and without nasal CPAP. The epiglottis was large and lax, and upon positive pressure inspiration, it was literally blown down so it occluded the hypopharyngeal airway.
A 42-year-old woman who experienced more than 50 attacks of left-sided facial palsies after exposure to chlorocresol was studied. Only muscles around the left side of the mouth were affected. On neurophysiological testing during chlorocresol provocation the only abnormality was a loss of motor units during maximal contraction of the left orbicularis oris muscle. This could be explained by a peripheral as well as a central effect. Extensive electrophysiological examination without chlorocresol provocation excluded a preexisting generalised nerve disorder and other diagnostic procedures did not give evidence of pathology involving the left facial nerve. A hyperreactive mechanism causing a transient block of the left facial nerve is proposed.
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Seven patients with prurigo nodularis and one with aphthous stomatitis were given 40-115 g of thalidomide for 1 to 6 years. They all developed a predominantly sensory peripheral neuropathy mainly involving the lower limbs. Five patients had an unpleasant tight feeling around the feet. Nerve conduction studies showed small sensory action potentials from the lower limbs with normal or only mild slowing of sensory conduction velocity indicating an axonal neuropathy. The dermatological disorder improved dramatically in all, but treatment had to be discontinued because of the severe side-effects. Thalidomide, if used, should be given only over a short period because of its neurotoxic effect.
The visual and somatosensory evoked potentials were delayed in two cases of the adult form of metachromatic leukodystrophy. Brainstem auditory evoked potentials were normal. The conduction velocity along peripheral nerves was 50% slowed in one case and near normal in the other. The findings are compatible with demyelination in the central and peripheral nervous systems. The diagnosis of metachromatic leukodystrophy should be considered in cases of early dementia, with or without psychosis or other neurologic deficits, in which evoked potentials are delayed and peripheral nerve conduction is slowed.
Evoked potential studies were undertaken in nine patients with acute transverse myelopathy three to 25 weeks after onset. The visual evoked potentials (VEP), brain stem auditory evoked potentials (BAEP) or somato-sensory evoked potentials (SEP) after median nerve stimulation were normal in all but one with prolonged latency of VEP. The SEP after tibial nerve stimulation was abnormal in six patients--in three, there was no cortical potential from either side (total conduction block); in two, there was a block on one side and a slightly delayed latency on the other; and in one patient there was a slightly prolonged latency bilaterally. The degree of abnormality was related to the severity of the disease. The recovery was poor in four of five patients with a conduction block and good in three of four patients with a normal or slightly delayed SEP after tibial nerve stimulation. The findings are attributed to oedema and necrosis in the central nervous system, whereas demyelination probably plays a minor role in acute transverse myelopathy.
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Four patients with Bannwarth's syndrome were examined. One to three weeks weeks after the appearance of a large erythematous skin lesion they developed pain of variable localisation. Four days to four weeks later uni- or bilateral facial palsies and other nerve lesions developed. CSF showed elevated protein and mononuclear pleocytosis. There was a defect of the blood-brain barrier and increased intrathecal production of IgG. Facial nerve latencies were increased 4 to 7 times in three cases and normal in one case examined 15 months after onset. Conduction velocity along other nerves was normal apart from slight slowing in one diabetic patient. Recovery was incomplete in three patients 8 to 15 months after onset of disease and complete in one patient after 15 months.
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Computed tomography of the brain (CT) was carried out at the early stages of subacute sclerosing panencephalitis (SSPE) in three children. The lateral ventricles were very small and the hemispheric sulci and interhemispheric fissures were not visible in all three patients in contrast to severe atrophy found at a later stage in one patient. The early CT abnormalities were revealed at the same time as the titres of measles antibodies in blood and cerebrospinal fluid were elevated, and the characteristic periodic complexes in the electroencephalogram established the diagnosis of SSPE. The CT changes indicating brain swelling reflect the reactive changes of this slow virus infection.