Acute bilateral paramedian thalamic infarcts after occlusion of the artery of Percheron.
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Acute Disease↗
Biomedical subjects
John M Gomori
Publications and source records attributed to John M Gomori.
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
BACKGROUND: Sjögren-Larsson syndrome (SLS) is an early childhood-onset disorder with ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy caused by the deficiency of fatty aldehyde dehydrogenase due to mutations in the ALDH3A2 gene (the gene that encodes microsomal fatty aldehyde dehydrogenase). Cerebral proton magnetic resonance spectroscopy in those with SLS demonstrates an abnormal white matter peak at 1.3 ppm, consistent with long-chain fatty alcohol accumulation. OBJECTIVE: To define the clinical course and proton magnetic resonance spectroscopic findings of SLS in adults. DESIGN AND SETTING: Case series in a tertiary care center. PATIENTS: Six siblings of a consanguineous Arab family with early childhood-onset SLS who carry the 682C-->T mutation in the ALDH3A2 gene were reinvestigated in adulthood. RESULTS: The 6 affected siblings ranged in age from 16 to 36 years. All exhibited the typical clinical and imaging manifestations of SLS, but their severity markedly varied. Neurological involvement was apparently nonprogressive, and its severity showed no correlation with age. Cerebral proton magnetic resonance spectroscopy showed a lipid peak at 1.3 ppm, with decreasing intensity in the older siblings. CONCLUSION: These observations document significant clinical variability and the nonprogressive neurological course of SLS in adult siblings with the same ALDH3A2 genotype, and demonstrate possible correlation of proton magnetic resonance spectroscopic changes with age, suggesting unknown pathogenic mechanisms to compensate for the responsible biochemical defect in this disease.
Adolescent↗
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
BACKGROUND: Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) is an autosomal recessive form of complicated HSP mainly characterized by slowly progressive spastic paraparesis and mental deterioration beginning in the second decade of life. The locus for HSP-TCC, designated SPG11, was mapped to chromosome 15q13-15 in some of the affected families from Japan, Europe, and North America, spanning an interval of 17.5 megabases (Mb). OBJECTIVE: To perform a clinical and genetic study of HSP-TCC. DESIGN AND SETTING: Case series; multi-institutional study. PATIENTS: Seven patients with HSP-TCC who belong to 3 consanguineous families of Arab origin residing in Israel. RESULTS: The 7 patients manifested a relatively similar combination of adolescence-onset cognitive decline and spastic paraparesis with TCC on brain magnetic resonance imaging. After excluding the SPG7 locus, we tested the 3 families for linkage to the SPG11, SPG21/MAST, and ACCPN loci associated with autosomal recessive disorders with TCC. Two families showed evidence for linkage to SPG11 (Z(max) = 5.55) and reduced the candidate region to 13 Mb. CONCLUSIONS: Our findings in HSP-TCC further confirm its worldwide distribution and genetic heterogeneity, and they significantly reduce the candidate SPG11 interval.
Adult↗
Sclerotherapy for venous malformations using a "negative subtraction" technique.
We describe a technique of injecting alcohol into venous malformations (VM) under slow digital subtraction angiography (DSA) which eliminates the need to pre-mix the alcohol with a contrast agent. The technique presented here is especially helpful when Metrizamide is not available or not permitted for use. It offers an elegant way to visualize, in real time, the alcohol injected into the VM, while preserving its high concentration and potency as a sclerosing agent.
Angiography, Digital Subtraction↗
Prenatal MR diffusion-weighted imaging in a fetus with hemimegalencephaly.
We report a case of hemimegalencephaly diagnosed by prenatal MRI with an emphasis on its appearance on diffusion-weighted images. This case shows that in this condition the enlarged hemisphere may show restricted diffusion on prenatal MRI. In our opinion, this finding may result from a combination of increased cellularity and advanced myelination in the affected hemisphere. Restricted diffusion is an additional valuable indicator in the analysis of the fetal brain.
Adult↗
Phase I/II trial of intravenous NDV-HUJ oncolytic virus in recurrent glioblastoma multiforme.
We undertook a Phase I/II trial in patients with apparent recurrent glioblastoma multiforme (GBM) based on imaging studies to determine the safety and tumor response of repetitive intravenous administration of NDV-HUJ, the oncolytic HUJ strain of Newcastle disease virus. The first part of the study utilized an accelerated intrapatient dose-escalation protocol with one-cycle dosage steps of 0.1, 0.32, 0.93, 5.9, and 11 billion infectious units (BIU) of NDV-HUJ (1 BIU = 1 x 10(9) EID(50) 50% egg infectious dose) followed by three cycles of 55 BIU. Virus was administered by intravenous infusion over 15 min. In the second part, patients received three cycles of 11 BIU. All patients without progressive disease were maintained with two doses of 11 BIU iv weekly. Eleven of the 14 enrolled patients (11-58 years, Karnofsky performance scale 50-90%) received treatment. Toxicity was minimal with Grade I/II constitutional fever being seen in 5 patients. Maximum tolerated dose was not achieved. Anti-NDV hemagglutinin antibodies appeared within 5-29 days. NDV-HUJ was recovered from blood, saliva, and urine samples and one tumor biopsy. One patient achieved a complete response. Intravenous NDV-HUJ is well tolerated. The findings of good tolerability and encouraging responses warrant the continued evaluation of NDV-HUJ in GBM, as well as other cancers.
Adolescent↗
Endovascular stent-assisted angioplasty in the management of traumatic internal carotid artery dissections.
BACKGROUND AND PURPOSE: The prognosis of traumatic dissection of the internal carotid artery is worse than for spontaneous dissections. Rapid stenting followed by antiplatelet therapy may prevent complications when anticoagulation therapy is not applicable. METHODS: Patients with angiographically proven traumatic carotid artery dissection and hemodynamic significant hemispheric hypoperfusion, or in whom anticoagulant therapy was either contraindicated or failed clinically, were regarded as being at high risk for stroke and were selected for stenting. RESULTS: Ten patients with traumatic dissection underwent stenting. Endovascular treatment reduced mean dissection stenosis from 69% to 8%. During a mean clinical follow-up time of 16 months, none had additional transient ischemic attacks or stroke. Doppler ultrasound studies did not detect any signs of de novo in-stent stenosis. CONCLUSIONS: In selected cases of traumatic carotid artery dissections, endovascular stent-assisted angioplasty immediately restored the integrity of the vessel lumen and prevented efficiently the occurrence of new ischemic events, without additional anticoagulation.
Adult↗
Early clinical heterogeneity in choreoacanthocytosis.
BACKGROUND: Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene. OBJECTIVE: To describe the early clinical features and possible genotype-phenotype correlation in CHAC. DESIGN AND SETTING: Case series in a tertiary care center. PATIENTS AND MAIN OUTCOME METHODS: Choreoacanthocytosis was diagnosed in 3 patients of Jewish origin from 3 unrelated families. We reviewed their medical histories and performed molecular analysis by screening all 73 exons of VPS13A. RESULTS: Trichotillomania, hypertrophic cardiomyopathy, and idiopathic hyperCKemia, in 1 patient each, preceded the development of the full clinical spectrum of CHAC by 2 to 20 years. At diagnosis, 2 patients manifested signs of overt neuromuscular involvement and were homozygous for the 6059delC mutation, whereas 1 patient had only hyporeflexia and was homozygous for the EX23del mutation. Because only 1 of the 2 patients with 6059delC had cardiomyopathy, its relevance to CHAC is unclear. CONCLUSIONS: These findings extend the knowledge of significant early clinical heterogeneity in CHAC and suggest a possible genotype-phenotype correlation. Awareness of the early manifestations may prevent misdiagnosis and enable appropriate genetic counseling.
Adult↗
Endovascular management of exsanguinating vertebral artery transection.
BACKGROUND: Vertebral artery (VA) transection is a rarely described entity that may present dramatically with a life-threatening external hemorrhage. CASE DESCRIPTION: A 25-year-old man that was victim of a terrorist attack presented a gunshot wound to the mouth with massive bleeding. The bullet perforated the oropharynx and injured the right VA. Combined antegrade and retrograde endovascular embolization by means of detachable coils allowed rapid control of the bleeding. CONCLUSION: Bleeding related to VA transection can be managed safely by means of endovascular combined approaches.
Adult↗
Protected stent-assisted angioplasty in radiation-induced carotid artery stenosis.
OBJECTIVE: The surgical treatment of radiation-induced carotid stenosis is challenging and presents a high rate of complications. This has led several investigators to propose stent-assisted angioplasty as the treatment of choice for this condition. The aim of this study is to evaluate the potential risks of intra-procedural embolic stroke in this setting using cerebral protection devices. METHODS: We describe our recent experience in the endovascular treatment by means of stent-assisted angioplasty with the aid of a filter cerebral protection device of eight patients presenting with radiation-induced carotid stenosis. RESULTS: Procedural success, defined as residual stenosis of less than 30% was obtained in all cases. The mean percentage stenosis was reduced from mean 80+/-6.3% (range 70-90%) to 13+/-4% (range 10-20%). Predilation was performed in five cases, post-dilation in all the cases. Mild-to-moderate bradycardia while inflating the balloon was present in three cases and was severe in one case. No patient sustained myocardial infarction, stroke or TIA during the procedure or hospital stay. During a mean clinical follow-up of 16+/-7.3 months (range 5-25) there were no neurological events. On sonographic follow-up, no patient presented in-stent de novo stenosis. DISCUSSION: Carotid angioplasty with cerebral protection can be performed safely in radiation-induced carotid stenosis with a high technical success rate. With the recent innovations and improvements in angioplasty technique, its indications and results will have to be redefined. Given the complexity and complications of surgical approaches for this condition, and the encouraging results obtained with endovascular techniques, carotid angioplasty emerges as the preferred treatment option.
Adult↗
Protected stent-assisted carotid angioplasty in the management of late post-endarterectomy restenosis.
OBJECTIVES: The high complication rate associated with the surgical treatment of post-carotid endarterectomy restenosis has led several investigators to propose stent-assisted angioplasty as the treatment of choice for this condition. Late restenosis is very infrequent and mainly due to atherosclerotic progression. The aim of this study is to evaluate the potential risk of intraprocedural embolic stroke during stent-assisted angioplasty with cerebral protection devices in these patients. METHODS: We describe our recent experience in the endovascular treatment of 10 patients presenting late carotid restenosis by means of stent-assisted angioplasty with the aid of a filter cerebral protection device. Mean elapsed time from surgery to angioplasty was 92+/-31 months (range 48-144 months). RESULTS: Procedural success was obtained in all the cases. Pre-dilation was performed in six cases, post-dilation in all the cases. The mean percentage stenosis was reduced from mean 77+/-12% (range 60-95%) to 6.3+/-6.7% (range 0-17%). Bradycardia while inflating the balloon was mild-to-moderate in seven cases and severe in two. No patient sustained stroke or transient ischemic attack (TIA) during the procedure or during hospital stay. On follow-up, two patients presented with moderate asymptomatic restenosis and were managed conservatively. DISCUSSION: Carotid angioplasty with cerebral protection can be performed safely in late carotid restenosis with a high technical success rate. No clinical embolic complications occurred in this subset of patients. With recent innovations and improvements in angioplasty technique, previous indications for angioplasty in these patients will have to be redefined. Carotid angioplasty seems to be a valuable treatment alternative to conventional surgery in this subset of patients.
Aged↗
Stent-assisted arterial reconstruction of traumatic extracranial carotid dissections.
OBJECTIVES: Dissection of the internal carotid artery is a well-recognized complication of craniocervical trauma with potentially grave neurological outcome in patients with significant ischemic symptoms. Traditional anticoagulation therapy may not be applicable, since anticoagulation is contraindicated in multiple trauma or penetrating injuries. In these circumstances, rapid stenting followed by antiplatelet therapy may be performed. METHODS: Patients with angiographically proven traumatic carotid artery dissection were prospectively selected for endovascular stenting according to clinical and radiological criteria. Essentially, patients with hemodynamic significant hemispheric hypoperfusion (as indicated by angiography or perfusion MRI), or in whom anticoagulant therapy failed clinically, or anticoagulation was contraindicated, were considered at high risk for stroke and were selected for stenting. Twelve patients were selected for stenting. RESULTS: In seven patients, multiple stents were implanted. Endovascular treatment reduced mean dissection stenosis from mean 65+/-33% (range, 10-100%) to mean 7+/-9% (range, 20-0%). In a mean clinical follow-up of 11.5+/-6.3 months (range 3-24 months), eight patients improved and four remained stable, and none of the patients had a TIA or stroke. Doppler U/S studies did not detect any signs of de novo in-stent stenosis in any of the patients at a mean follow-up time of 9.2+/-6.4 months. CONCLUSIONS: In selected cases of traumatic dissections of the carotid artery, endovascular stent-assisted angioplasty may immediately restore the integrity of the vessel lumen, even of acutely occluded arteries. This approach efficiently prevented the occurrence of new ischemic events, without additional anticoagulation.
Adolescent↗
Imaging of cerebral perfusion in acute stroke.
Rapid imaging of cerebral perfusion in acute stroke is needed for timely triage of patients for thrombolytic therapy. Accurate quantitative perfusion imaging is required for proper assessment of penumbral brain parenchyma truly at risk for extension of infarction from the irreversible core infarction. CT and MRI techniques offer rapidity and availability for acute stroke imaging, including that of cerebral perfusion. CT perfusion techniques are readily available, but suffer from limited brain coverage of present multislice scanners. MRI offers whole brain coverage, but suffers from less availability and higher cost than CT. Presently, development is directed towards increasing the quantitative accuracy of cerebral perfusion imaging and validation of surrogate parameters, such as time to peak (TTP). In the future, the need for rapid and frequent assessment of cerebral perfusion and its metabolic correlates, with minimal or no radiation, will probably be met by MRI.
Cerebrovascular Circulation↗
Endovascular management of traumatic and iatrogenic aneurysms of the pericallosal artery. Report of two cases.
Traumatic intracranial aneurysms are rare complications of closed and penetrating head injuries and may also be related to a variety of neurosurgical procedures. The primary goals in the treatment of patients harboring these lesions are early identification and intervention to prevent bleeding. Traumatic aneurysms are fragile, prone to rupture, and represent a challenging subset of vascular lesions for either surgery or endovascular therapy. Surgical approaches to aneurysms located at the pericallosal arteries are associated with higher rates of morbidity and mortality than approaches to other supratentorial aneurysms. Current endovascular treatment most often involves occlusion of the parent artery with the potential of added morbidity. The authors present their experience in the endovascular management of traumatic and iatrogenic aneurysms of the pericallosal artery achieved by primary coil embolization with parent vessel preservation. For patients harboring traumatic pericallosal aneurysms with favorable anatomical characteristics, in which the morbidity caused by parent vessel occlusion is not acceptable, endosaccular coil placement may be a valuable option.
Adolescent↗
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia. This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine.
Adult↗
Spinal epidural lipomatosis following haploidentical allogeneic bone marrow transplantation for non-Hodgkin lymphoma.
OBJECTIVES: Spinal epidural lipomatosis, is a very rare condition, usually seen as an uncommon complication of Cushing's syndrome secondary to chronic steroid therapy leading to increased fat deposits in the epidural space. CASE REPORT: We report the first documented case of acute symptomatic spinal epidural lipomatosis in a patient with relapsed non-Hodgkin lymphoma. The patient underwent an allogeneic bone marrow transplantation (BMT) and a month of steroid treatment for acute graft vs. host disease (GvHD). He presented with a mild to moderate Cushing's syndrome and minimal obesity. He progressed rapidly to paraparesis, sensory deficit, urinary incontinence and finally respiratory arrest complicated with staphylococcal sepsis. CONCLUSION: Epidural lipomatosis, with subacute thecal sac compression, is a possible life-threatening complication of relatively short-term systemic glucocorticoid therapy for GvHD in BMT setting.
Adult↗
Unusual bilateral lesions of the internal auditory canals.
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Adenocarcinoma↗
Hyperhomocysteinemia and vitamin score: correlations with silent brain ischemic lesions and brain atrophy.
Elevated fasting plasma total homocysteine concentration (tHcy) and lower vitamin status are associated with atherosclerotic states. Silent brain ischemic lesions and brain atrophy, prevailing in the elderly, are affected by tHcy and vitamin status. The study was performed on 56 outpatients who had undergone brain computed tomography (CT) before the onset of the study. According to brain CT evaluation, three groups were set: minor brain ischemia, brain atrophy and control. Brain CT, tHcy, plasma pyridoxal phosphate (PLP), vitamin B(12), folic acid and cognitive and functional capacities were measured or evaluated in all of the subjects. Plasma vitamin score for three vitamins was calculated. In subjects with minor brain ischemic lesions (n = 21), tHcy was higher by 5.6 microM, whereas vitamin score and cognitive function were lower than in controls (n = 24). In subjects with brain atrophy (n = 11), plasma PLP and cognitive function were lower. Particular attention should be paid to tHcy monitoring, vitamin status assessment and brain impairment evaluation.
Aged↗