Rasmussen encephalitis without seizures is rare. We report a case of Rasmussen encephalitis and c... more Rasmussen encephalitis without seizures is rare. We report a case of Rasmussen encephalitis and cortical dysplasia without epilepsy as well as describe the imaging, pathology, and clinical course and review the literature to investigate whether this may represent a rare subset of Rasmussen encephalitis. We report the case of a 12-year-old girl with a history of cognitive decline and right arm weakness. Magnetic resonance imaging demonstrated diffuse left hemispheric cortical and subcortical atrophy suggestive of Rasmussen encephalitis. The patient had no clinical history of seizures, and electroencephalography did not demonstrate epileptiform abnormalities. Craniotomy for open brain biopsy was performed, and histopathologic evaluation identified Rasmussen encephalitis with cortical dysplasia (dual pathology). To the best of our knowledge, this is the third case of Rasmussen encephalitis diagnosed by both imaging and histopathology that had no clinical or electroencephalographic evidence of seizures and is the only case of Rasmussen encephalitis with cortical dysplasia without epilepsy.
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the... more Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We performed mutation analysis and retrospective genotype-phenotype correlations in all eligible patients with AHC enrolled in the US AHC Foundation registry from 1997-2012. Clinical data were abstracted from standardized caregivers' questionnaires and medical records and confirmed by expert clinicians. We identified ATP1A3 mutations by Sanger and whole genome sequencing, and compared phenotypes within and between 4 groups of subjects, those with D801N, E815K, other ATP1A3 or no ATP1A3 mutations. We identified heterozygous ATP1A3 mutations in 154 of 187 (82%) AHC patients. Of 34 unique mutations, 31 (91%) are missense, and 16 (47%) had not been previously reported. Concordant with prior studies, more than 2/3 of all mutations are cluster...
Therapeutic hypothermia and temperature management, 2011
The induction of mild hypothermia has been considered as an important means to provide protection... more The induction of mild hypothermia has been considered as an important means to provide protection against cerebral ischemia. Yet, to date, the relative clinical efficacies of different noninvasive methods for reducing core body temperature have not been thoroughly studied. The aim of the current investigation was to compare the relative effectiveness of several noninvasive cooling techniques for reducing core temperatures in healthy volunteers. Cooling methods included convective/conductive and evaporative/conductive combinations, as well as evaporative cooling alone. Additionally, focal facial warming was employed as a means to suppress involuntary motor activity and thus better enable noninvasive cooling. Core temperatures were measured so to monitor the relative efficiencies of these induced cooling methodologies. With each employed methodology, rectal temperature reductions were induced, with combined evaporative/conductive (n=4, 1.44°C±0.99°C) and convective/conductive (n=4, 1....
We report the natural history of the closure of the cavum septum pellucidum in 47 premature infan... more We report the natural history of the closure of the cavum septum pellucidum in 47 premature infants. In this study, a cavum septum pellucidum was present in all patients at 25 to 26 weeks' postconceptual age, in keeping with previous reports. The data from this study suggest that premature delivery does not change the natural history of the normal closure of the cavum septum pellucidum in most infants by 36 to 40 weeks' postconceptual age. Although not statistically significant, there is a suggestion from these data that higher grades of intraventricular hemorrhage are more frequently associated with loss (early closure) of the cavum septum pellucidum. One particularly illustrative case with a grade 4 intraventricular hemorrhage and subsequent hydrocephalus suggests that increases in pressure and volume in the lateral ventricles can cause the laminae of the septum pellucidum to approximate and appear to fuse earlier than expected. However, the fact that the cavum septum pellucidum reappeared in this case after ventricular pressure was decreased (postventricular shunt) suggests that approximation is not the sole factor in definitive fusion of the laminae of the septum pellucidum.
A decrease of 1 or 2 degrees C in core temperature may provide protection against cerebral ischem... more A decrease of 1 or 2 degrees C in core temperature may provide protection against cerebral ischemia. However, during corporeal cooling of unanesthetized patients, the initiation of involuntary motor activity (shiver) prevents the reduction of core temperature. The authors' laboratory previously showed that focal facial warming suppressed whole-body shiver. The aim of the current study was to determine whether the use of hand warming alone could suppress shiver in unanesthetized subjects and hence potentiate core cooling. Subjects (n = 8; healthy men) were positioned supine on a circulating water mattress (8-15 degrees C) with a convective-air coverlet (14 degrees C) extending from their necks to their feet. A dynamic protocol was used in which focal hand warming was used to suppress involuntary motor activity, enabling noninvasive cooling to decrease core temperatures. The following parameters were monitored: (1) heart rate; (2) blood pressure; (3) core temperature (rectal, tympanic); (4) cutaneous temperature and heat flux; (5) subjective shiver level (SSL scale 0-10) and thermal comfort index (scale 0-10); (6) metabolic data (n = 6); and (7) electromyograms. During cooling without hand warming, involuntary motor activity increased until it was widespread. After subjects reported whole-body shiver (SSL > or = 7), applied hand warming, in all cases, reduced shiver levels (SSL < o r= 3), decreased electromyographic root mean square amplitudes, and allowed core temperature to decrease from 37.0 +/- 0.2 to 35.9 +/- 0.5 degrees C (measured rectally). Focal hand warming seems to be valuable in minimizing or eliminating the need to suppress involuntary motor activity pharmacologically when it is desired to induce or maintain mild hypothermia; it may be used in conjunction with facial warming or in cases in which facial warming is contraindicated.
Rasmussen encephalitis without seizures is rare. We report a case of Rasmussen encephalitis and c... more Rasmussen encephalitis without seizures is rare. We report a case of Rasmussen encephalitis and cortical dysplasia without epilepsy as well as describe the imaging, pathology, and clinical course and review the literature to investigate whether this may represent a rare subset of Rasmussen encephalitis. We report the case of a 12-year-old girl with a history of cognitive decline and right arm weakness. Magnetic resonance imaging demonstrated diffuse left hemispheric cortical and subcortical atrophy suggestive of Rasmussen encephalitis. The patient had no clinical history of seizures, and electroencephalography did not demonstrate epileptiform abnormalities. Craniotomy for open brain biopsy was performed, and histopathologic evaluation identified Rasmussen encephalitis with cortical dysplasia (dual pathology). To the best of our knowledge, this is the third case of Rasmussen encephalitis diagnosed by both imaging and histopathology that had no clinical or electroencephalographic evidence of seizures and is the only case of Rasmussen encephalitis with cortical dysplasia without epilepsy.
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the... more Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We performed mutation analysis and retrospective genotype-phenotype correlations in all eligible patients with AHC enrolled in the US AHC Foundation registry from 1997-2012. Clinical data were abstracted from standardized caregivers' questionnaires and medical records and confirmed by expert clinicians. We identified ATP1A3 mutations by Sanger and whole genome sequencing, and compared phenotypes within and between 4 groups of subjects, those with D801N, E815K, other ATP1A3 or no ATP1A3 mutations. We identified heterozygous ATP1A3 mutations in 154 of 187 (82%) AHC patients. Of 34 unique mutations, 31 (91%) are missense, and 16 (47%) had not been previously reported. Concordant with prior studies, more than 2/3 of all mutations are cluster...
Therapeutic hypothermia and temperature management, 2011
The induction of mild hypothermia has been considered as an important means to provide protection... more The induction of mild hypothermia has been considered as an important means to provide protection against cerebral ischemia. Yet, to date, the relative clinical efficacies of different noninvasive methods for reducing core body temperature have not been thoroughly studied. The aim of the current investigation was to compare the relative effectiveness of several noninvasive cooling techniques for reducing core temperatures in healthy volunteers. Cooling methods included convective/conductive and evaporative/conductive combinations, as well as evaporative cooling alone. Additionally, focal facial warming was employed as a means to suppress involuntary motor activity and thus better enable noninvasive cooling. Core temperatures were measured so to monitor the relative efficiencies of these induced cooling methodologies. With each employed methodology, rectal temperature reductions were induced, with combined evaporative/conductive (n=4, 1.44°C±0.99°C) and convective/conductive (n=4, 1....
We report the natural history of the closure of the cavum septum pellucidum in 47 premature infan... more We report the natural history of the closure of the cavum septum pellucidum in 47 premature infants. In this study, a cavum septum pellucidum was present in all patients at 25 to 26 weeks' postconceptual age, in keeping with previous reports. The data from this study suggest that premature delivery does not change the natural history of the normal closure of the cavum septum pellucidum in most infants by 36 to 40 weeks' postconceptual age. Although not statistically significant, there is a suggestion from these data that higher grades of intraventricular hemorrhage are more frequently associated with loss (early closure) of the cavum septum pellucidum. One particularly illustrative case with a grade 4 intraventricular hemorrhage and subsequent hydrocephalus suggests that increases in pressure and volume in the lateral ventricles can cause the laminae of the septum pellucidum to approximate and appear to fuse earlier than expected. However, the fact that the cavum septum pellucidum reappeared in this case after ventricular pressure was decreased (postventricular shunt) suggests that approximation is not the sole factor in definitive fusion of the laminae of the septum pellucidum.
A decrease of 1 or 2 degrees C in core temperature may provide protection against cerebral ischem... more A decrease of 1 or 2 degrees C in core temperature may provide protection against cerebral ischemia. However, during corporeal cooling of unanesthetized patients, the initiation of involuntary motor activity (shiver) prevents the reduction of core temperature. The authors' laboratory previously showed that focal facial warming suppressed whole-body shiver. The aim of the current study was to determine whether the use of hand warming alone could suppress shiver in unanesthetized subjects and hence potentiate core cooling. Subjects (n = 8; healthy men) were positioned supine on a circulating water mattress (8-15 degrees C) with a convective-air coverlet (14 degrees C) extending from their necks to their feet. A dynamic protocol was used in which focal hand warming was used to suppress involuntary motor activity, enabling noninvasive cooling to decrease core temperatures. The following parameters were monitored: (1) heart rate; (2) blood pressure; (3) core temperature (rectal, tympanic); (4) cutaneous temperature and heat flux; (5) subjective shiver level (SSL scale 0-10) and thermal comfort index (scale 0-10); (6) metabolic data (n = 6); and (7) electromyograms. During cooling without hand warming, involuntary motor activity increased until it was widespread. After subjects reported whole-body shiver (SSL > or = 7), applied hand warming, in all cases, reduced shiver levels (SSL < o r= 3), decreased electromyographic root mean square amplitudes, and allowed core temperature to decrease from 37.0 +/- 0.2 to 35.9 +/- 0.5 degrees C (measured rectally). Focal hand warming seems to be valuable in minimizing or eliminating the need to suppress involuntary motor activity pharmacologically when it is desired to induce or maintain mild hypothermia; it may be used in conjunction with facial warming or in cases in which facial warming is contraindicated.
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Papers by Matthew Sweney