Biomedical subjects
Publications and source records attributed to W C Robertson.
Fetal nutrition as assessed by skin-fold thickness was correlated with nerve conduction in 27 babies of 39 to 41 weeks' gestation. There was correlation between skin-fold thickness and conduction velocity, suggesting that fetal nutrition may alter peripheral nerve function by influencing myelination.
Familial infantile myasthenia is a rare type of myasthenia that usually occurs in connection with respiratory depression. The condition is characterized by (1) absence of myasthenia in the mother, (2) occurrence of a similar disorder among siblings, (3) respiratory depression at birth, (4) episodic weakness and apnea during the first two years of life, and (5) improvement with age. Since the condition responds to anticholinesterase medication, early diagnosis is important. Familial infantile myasthenia is a potential cause of sudden infant death and should be considered in infants with unexplained respiratory distress.
Thirty-eight cases of subacute sclerosing panencephalitis (SSPE) were reviewed. Deterioration in school performance, personality changes, and seizures were common early symptoms. Initial examination frequently showed myoclonus, spasticity, and extrapyramidal dysfunction, and in two-thirds of patients these findings were asymmetrical or focal. Retinitis or papilledema was present on initial examination in 50% of the patients. At last follow-up 24 children had died, with a mean survival of 42 months. Most patients reached a state of severe neurological impairment within 13 months. Subsequent evidence of improvement was noted in 10 children and was sustained in 4. Fifteen patients received antiviral treatment. Ten treated patients died from 5 to 133 months (mean, 58) from onset of their illness, while 15 untreated patients survived a mean of 33 months. Duration of survival appeared to be affected most by treatment with amantadine. Three patients treated with the drug were alive 97 to 139 months after onset of SSPE, and 5 died with a mean survival of 78 months. Five of 6 individuals treated with rifampin died after a mean survival of 27 months. Prolonged remissions occurred only in patients treated with amantadine. Although the number of treated individuals was small, our data suggest that amantadine may affect the natural course of SSPE.
Ten football players seen from 1973 through 1977 at the University of Wisconsin Hospitals were found to have clinical and electrodiagnostic evidence of injury to the upper trunk of the brachial plexus. Each had upper limb paresis following one or more blows to the head or shoulders. The development of persistent weakness often was preceded by burning paresthesias in the upper limb. Our experience suggests that the syndrome of burning paresthesias and subsequent arm weakness frequently is secondary to stretching of the brachial plexus.
In 1952, Cogan introduced the term "congenital ocular motor apraxia" (COA) to describe an abnormality of eye movements characterized by absent or defective voluntary horizontal gaze. Since his original description, there have been few subsequent reports of this disorder. A ten-year review of clinical records from the University of Wisconsin Hospitals disclosed eight patients with COA. In two patients subjected to neuroradiologic testing, agenesis of the corpus callosum was detected. Voluntary horizontal gaze appears to be a learned phenomenon, and defective interhemispheric transfer of visual information may be important in the pathogenesis of COA.
The Kearns-Sayre syndrome (KSS) appears to be a distinctive disorder characterized by progressive external ophthalmoplegia, pigmentary degeneration of the retina, heart block, and elevated CSF protein levels. Recent reports have suggested that abnormalities of muscle mitochondria may also be a consistent finding in KSS. We recently examined a patient with KSS whose skeletal muscle contained abnormal mitochondria. In addition, a computerized tomographic scan of the head showed cerebellar and brain stem atrophy, as well as calcification in the region of the basal ganglia.
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Seizures associated with deglutition are rare, and previously reported cases of so-called eating epilepsy have not identified specific electrophysiological or anatomical foci. We evaluated a 14-year-old with a deep hemispheric astrocytoma in whom focal seizures were consistently triggered by eating. Electroencephalograms were consistent with a deeply located seizure focus. Eating epilepsy should be grouped with reflex epilepsies that may originate with the diencephalon.
During the past two years we studied six infants with subdural collections of fluid. All patients had macrocrania and excessive transillumination of the head. Rapid head growth was common but five patients were otherwise asymptomatic. Subdural taps performed on five children confirmed the presence of abnormal fluid over the cerebral convexities. Subdural fluid in four patients was compatible with effusion and in another with a hematoma. Computerized tomographic evaluation of all infants showed ventricular enlargement, wide cerebral sulci, decreased density in the anterior temporal regions, large sylvian cisterns, prominent interhemispheric fissures, and decreased density over the cerebral convexities. The CT findings resembled cerebral atrophy but psychomotor development and neurologic examinations have been norma.
Copper (Cu) metabolism was selectively studied in seven infants with Menke's steely-hair syndrome (SHS). A daily oral regimen of CuSO4 (584 microgram Cu/kg) and L-histidine (100 mg/kg) in three infants produced an increase in serum Cu concentrations ranging from 33-95% of normal, but without the formation of ceruloplasmin. Cohn serum protein fractionation after oral Cu/L-histidine loading showed a disproportionate accumulation of Cu in the albumin fraction (V). The electron spin resonance spectrum of fraction V showed a heightened signal for the SHS patients, suggesting that an increased concentration of a radical Cu species is present after oral loading. The Sephadex G-150 chromatographic profile of serum fraction V in SHS did not differ significantly from controls. These results suggest that, in SHS, Cu absorbed in the presence of L-histidine is in an abnormal complex involving albumin, which does not allow for holoceruloplasmin biosynthesis. Cu and ceruloplasmin concentrations in the cord blood specimen of an infant who went on to develop SHS were normal, a finding which may account for the transient period of seemingly normal development after birth in SHS patients. An almost 6-fold difference in mean Cu concentration was observed in SHS fibroblasts compared to controls. Fibroblast Cu concentration was elevated in one to two possible maternal heterozygotes, a finding which may permit diagnosis of the carrier state for some SHS heterozygotes.
There have been few descriptions of spontaneous epidural hematoma of the spinal cord in children. Duration of symptoms in previous cases has varied from hours to days. We recently evaluated a 6-year-old girl with cord compression from an extradural clot, who complained of thoracic back pain for 3 months before becoming paraplegic. Our experience suggests that spontaneous epidural bleeding may be responsible for episodic back pain and cord compression in children.
The Kearns-Sayre syndrome (KSS) is a distinctive type of progressive external ophthalmoplegia, characterized by pigmentary degeneration of the retina, heart block, elevated concentration of cerebrospinal fluid protein, and abnormal muscle mitochondria. Previously described cases have all been sporadic. Consequently, viral infections and autoimmune disorders have been proposed as etiologies. The occurrence of KSS in two brothers suggests that genetic factors may play a role in the pathogenesis of some cases.
Dilation of the subarachnoid channels overlying the cerebral hemispheres, ie, external hydrocephalus, can be an early anatomic-radiologic finding in some infants with congenital communicating hydrocephalus. This structural change may progress to ventricular dilation or internal hydrocephalus. Enlargement of the subarachnoid channels appears to occur during the first stage in the development of congenital communicating hydrocephalus, which is to say that the subarachnoid compartment allows accumulation of CSF before there is significant ventricular distention, at least in some infants. When a pneumoencephalogram or a CT scan is performed at this stage, the findings may falsely suggest "cerebral atrophy." In six patients who received this grave neuroradiologic diagnosis, five subsequently developed normally and the sixth has static incoordination or clumsiness and mild intellectual deficiency.
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During the past 2 years six infants were seen at University of Wisconsin Hospitals (UWH) with subdural hematomas (effusions). This communication describes the abnormalities found on computerized tomographic (CT) evaluation of the six infants.
To test whether congenital nemaline myopathy (NM) might have a neurogenic basis, we evaluated the number and frequency distribution of L5 motoneuron cell bodies and their myelinated ventral root (VSR) axons in a typical case. Results were compared to those from three age-matched controls and those from a child with Werdnig-Hoffmann disease (WHD). Diameter histograms of cell bodies of L5 motoneurons from controls contained three peaks which were identified as large, intermediate, and small cytons (LC, IC, and SC). In previous work from our laboratory, the numbers of LC and IC of the L5 segment was found to correspond closely enough to the numbers of LA and IA (large and intermediate diameter myelinated axons) of L5 ventral spinal root to indicate that the majority of LC are alpha and the majority of IC are gamma motoneurons. The number of LC of L5 reference cords varied from 3508 to 4916, and of IC from 967 to 2204. The diameter histogram of cytons from the NM case differed from controls; the LC and IC peaks were displaced to smaller diameter categories, but their number was normal (4520 and 2023, respectively). In WHD, the numbers of LC and IC were 211 and 946, respectively. Axons were similarly affected. The severe decrease from normal in the number of large motoneurons in WHD, and the reduction in size without loss of motoneurons in NM, indicates a different morphologic basis for NM and WHD. In NM the reduction in size without decrease in number of motoneurons is probably secondary to congenital myopathy and does not provide evidence for a neurogenic etiology.
Sensory nerve conduction velocity was measured in 16 healthy volunteers from 3 to 16 years of age by using evoked cortical potentials. Using the latencies to the peaks of the 2nd and 3rd components (N1 and P2) of the average evoked response, conduction velocities for the wrist-to-elbow segment of the median nerve were found to have a range of 58 to 74 meters/second (m/s). Mean values using N1 and P2 were not significantly different. Conduction velocities in the same children obtained by stimulation of the median nerve at the elbow and wrist while recording the digital nerve action potential from the index finger had a range of 58 to 70 m/s. Mean values determined using cortical and digital potentials were not significantly different. In individual subjects, values obtained with the two techniques differed by 0 to 9 m/s using the N1 peak and 0 to 11 m/s using the P2 peak of the of the cortical potential. Reliable conduction velocity measurements for sensory nerves can be obtained in children using evoked cortical potentials with relatively simple methods. This technique has been successful when conventional methods did not detect peripheral sensory responses.