Elizabeth C. Dooling
Harvard University
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Stroke | 1996
Steven C. Cramer; Richard L. Robertson; Elizabeth C. Dooling; R. Michael Scott
BACKGROUND AND PURPOSE Moyamoya disease is a chronic occlusive cerebrovascular disorder characterized by progressive stenosis of the supraclinoid internal carotid artery, with the secondary development of enlarged basal collateral vessels. It may occur as a primary disease or as a syndrome in association with a variety of conditions, and its pathogenesis remains unexplained. There are relatively few reports describing the occurrence of moyamoya in Down syndrome. The aim of this study is to describe the clinical and radiological features of moyamoya syndrome associated with Down syndrome (MM-DS) and to explore theories of moyamoya pathogenesis in these patients. METHODS Seven children with MM-DS underwent brain imaging, transfemoral angiography, and serial neurological exams. Neurological deficits, poststroke recovery, radiographic infarct characteristics, and angiographic abnormalities were reviewed. RESULTS The clinical and radiological features of primary moyamoya disease overlap with those of MM-DS. Hemiplegia and aphasia were the most common presentations. Motor recovery was excellent in five of seven cases. Cerebral infarcts were superficial or deep and can occur in a watershed distribution. Angiography demonstrated involvement of the internal carotid artery and its branches bilaterally in all seven cases and the posterior cerebral arteries in four cases. CONCLUSIONS The clinical and radiological features of MM-DS overlap with primary moyamoya disease. We postulate that a protein encoded on chromosome 21 may be related to the pathogenesis of moyamoya disease. Although the neuronal substrate is abnormal in Down syndrome patients, recovery from hemiplegic stroke in patients with MM-DS is comparable to recovery in patients with primary moyamoya.
Human Pathology | 1992
David N. Louis; Andreas von Deimling; G. Richard Dickersin; Elizabeth C. Dooling; Bernd R. Seizinger
The desmoplastic cerebral astrocytoma of infancy (DCAI) is a rare tumor that presents as a large hemispheric mass in infants. Despite an ominous histologic picture that may resemble a sarcoma, the tumor is astrocytic and has a good prognosis. We present two cases of DCAI, with histopathologic, immunohistochemical, ultrastructural, and molecular genetic data, and draw the following conclusions: (1) the diagnosis of DCAI requires a high index of suspicion and immunohistochemical or ultrastructural proof of astrocytic differentiation; (2) the data argue against nosologically equating these tumors with the desmoplastic infantile ganglioglioma, pleomorphic xanthoastrocytoma, or gliofibroma; (3) the components of the extensive tumor basal lamina may be elaborated by the tumor cells themselves and may contribute in an autocrine fashion to the slow growth of these lesions; and (4) if the lack of allelic loss on chromosomes 17p (including the p53 tumor suppressor gene locus) and 10 seen in our cases is found in other cases of DCAI, this may further distinguish the DCAI from other astrocytomas.
Neurology | 1981
Edward M. Kaye; Elizabeth C. Dooling
Two full-term unrelated infants developed herpetic lesions at the site of scalp fetal monitor electrodes several days after uncomplicated labor and vaginal delivery. The mothers had been asymptomatic during pregnancy. In addition to the scalp vesicles, one infant had unilateral herpetic conjunctivitis; the other infant had vesicles on the face without ocular involvement. Both babies had cerebro-spinal fluid (CSF) pleocytosis and elevated protein. Herpes virus was cultured from the vesicles and CSF. Computed tomography showed low density areas in the frontotemporal regions. On follow-up, seizures persisted and neurologic development was impaired. These patients illustrate the potential risk of infection when internal fetal monitoring is used in low risk pregnancies.
Pediatric Neurology | 1996
Divya S. Khurana; Carsten G. Bonnemann; Elizabeth C. Dooling; Eileen M. Ouellette; Ferdinando S. Buonanno
Vertebral artery dissection is an uncommon cause of stroke in children. Accuracy of diagnosis by magnetic resonance angiography (MRA) instead of invasive transfemoral angiography (TFA) has been controversial. The need for anticoagulation and duration of such therapy is also arguable. We report 2 boys with vertebral artery dissection: one, aged 7 years, presented with hemiparesis and seizures and the other, aged 4 years, presented with ataxia. Each boys initial MRA was not interpreted as delineating occlusive lesions to explain the posterior circulation infarcts visualized on computed tomography and magnetic resonance imaging scans. However, subsequent MRAs were suspicious for vertebral artery dissection, which was confirmed by TFA. Both children were treated with anticoagulation therapy. The first patient continued to manifest evidence of new infarcts despite treatment (initially with aspirin alone, followed by anticoagulation with heparin and warfarin), and is now maintained on a combination of high dose warfarin and aspirin. The second patient is now maintained on aspirin alone after initial anticoagulation for 6 months with heparin followed by warfarin. A high index of suspicion for vertebral artery dissection may allow diagnosis on the basis of MRA alone. Previous reports have indicated good outcomes of vertebral artery dissection in children and adults irrespective of anticoagulation treatment. Our experience suggests that anticoagulation may be beneficial in preventing further strokes caused by the dissection.
Cancer | 1977
Elizabeth C. Dooling; Je G. Chi; Floyd H. Gilles
Striking similarities between the pineals of 107 fetuses and infants and a pigmented neuroectodermal tumor occurring in the right orbital and right frontal regions in a 6‐month‐old Puerto Rican boy were found. Both the human fetal pineal and melanotic neuroectodermal tumors of infancy are characterized by pigmented (melanin) epithelial cells, small undifferentiated cells, and a fibrovascular stroma. Our findings suggest the fetal pineal may be a normally occurring precursor of the melanotic neuroectodermal tumor of infancy, or that melanin production may be a normal capability of differentiating neuroepithelial cells.
Canadian Journal of Neurological Sciences | 2004
Colin P. Doherty; Andrew J. Cole; P. Ellen Grant; Alan J. Fischman; Elizabeth C. Dooling; Daniel B. Hoch; Tessa Hedley White; G. Rees Cosgrove
BACKGROUND Little is understood about the evolution of structural and functional brain changes during the course of uncontrolled focal status epilepticus in humans. METHODS We serially evaluated and treated a nine-year-old girl with refractory focal status epilepticus. Long-term EEG monitoring, MRI, MRA, SPECT, intraoperative visualization of affected cortex, and neuropathological examination of a biopsy specimen were conducted over a three year time span. Imaging changes were correlated with simultaneous treatment and EEG findings. RESULTS The EEG monitoring showed almost continuous spike discharges emanating initially from the right frontocentral area. These EEG abnormalities were intermittently suppressed by treatment with anesthetics. Over time, additional brain areas developed epileptiform EEG abnormalities. Serial MRI studies demonstrated an evolution of changes from normal, through increased regional T2 signal to generalized atrophy. An MRA demonstrated dilatation of the middle cerebral artery stem on the right compared to the left with a broad distribution of flow-related enhancement. An 18FDG-PET scan showed a dramatically abnormal metabolic profile in the same right frontocentral areas, which modulated in response to treatment during the course of the illness. A right frontotemporal craniotomy revealed a markedly hyperemic cortical focus including vascular shunting. A sample of resected cortex showed severe gliosis and neuronal death. CONCLUSIONS The co-registration of structural and functional imaging and its correlation with operative and pathological findings in this case illustrates the relentless progression of regional and generalized abnormalities in intractable focal status epilepticus that were only transiently modified by exhaustive therapeutic interventions. Increased flow through large vessels appeared to be shunted and did not translate into increased microvascular perfusion.
American Journal of Obstetrics and Gynecology | 1982
Suzette Morelock; Ralph Hingson; Herbert L. Kayne; Elizabeth C. Dooling; Barry Zuckerman; Nancy Day; Joel J. Alpert; Gordon Flowerdew
As part of a prospective study investigating maternal characteristics and habits during pregnancy and their impact on fetal development, 1,690 mother/infant pairs were studied. Of the mothers, 375 reported using Bendectin during pregnancy. Multivariate analyses examining birth weight, length, head circumference, gestational age, and congenital malformations as dependent variables demonstrated no associations between Bendectin exposure and adverse fetal outcome.
Neurology | 1980
Elizabeth C. Dooling; Edward P. Richardson; Kenneth R. Davis
Computed tomography (CT) in a 34-year-old woman with Hallervorden-Spatz disease (established on the basis of clinicopathologic findings in a sister, and a typical clinical course) showed severe diffuse cerebral atrophy and ventricular enlargement. Ratios between the intercaudate distance and the width of the frontal horns (FH:CC) or the outer tables of the skull (CC:OTcc) exceeded those found in patients with Huntington disease. CT may be helpful diagnostically in progressive cerebral disorders of late childhood or adolescence.
Pediatric Neurology | 1985
Edward M. Kaye; Paul R. Cass; Elizabeth C. Dooling; N. Paul Rosman
Three children with chronic intracranial epidural hematomas are described. The hematomas were identified by computed tomographic scanning two to eleven days after a head injury. Two of the children were managed non-surgically over a one month period, during which time they remained stable without deteriorating consciousness or development of focal neurologic signs, and with evidence of resorption of the hematomas on follow-up scans. One child, initially clinically stable, had surgical evacuation of her clot 17 days after the injury because of a recurrence of vomiting. The children with chronic epidural hematomas managed without neurosurgical intervention were normal on subsequent neurologic examinations.
The New England Journal of Medicine | 1986
Elizabeth C. Dooling; Edward P. Richardson
Presentation of Case First admission. A 16-year-old boy was admitted to the hospital because of a brain tumor. The patient was known to have had seizures during the first two years of his life. He ...