ABSTRACT
Congenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated with ocular disease. Pathology is characterized by strong proinflammatory responses. Ligation of ATP by purinergic receptor P2X(7), encoded by P2RX7, stimulates proinflammatory cytokines and can lead directly to killing of intracellular pathogens. To determine whether P2X(7) has a role in susceptibility to congenital toxoplasmosis, we examined polymorphisms at P2RX7 in 149 child/parent trios from North America. We found association (FBAT Z-scores +/-2.429; P=0.015) between the derived C(+)G(-) allele (f=0.68; OR=2.06; 95% CI: 1.14-3.75) at single-nucleotide polymorphism (SNP) rs1718119 (1068T>C; Thr-348-Ala), and a second synonymous variant rs1621388 in linkage disequilibrium with it, and clinical signs of disease per se. Analysis of clinical subgroups showed no association with hydrocephalus, with effect sizes for associations with retinal disease and brain calcifications enhanced (OR=3.0-4.25; 0.004Subject(s)
Chorioretinitis/genetics
, Genetic Predisposition to Disease/genetics
, Receptors, Purinergic P2/genetics
, Toxoplasmosis, Congenital/genetics
, Adult
, Brazil
, Child, Preschool
, Chorioretinitis/etiology
, Female
, Genome-Wide Association Study
, Haplotypes/genetics
, Humans
, Inheritance Patterns/genetics
, Linkage Disequilibrium
, Logistic Models
, Male
, North America
, Polymorphism, Single Nucleotide/genetics
, Receptors, Purinergic P2X7
, Toxoplasmosis, Congenital/complications
Subject(s)
Alexander Disease/diagnosis , Alexander Disease/genetics , Glial Fibrillary Acidic Protein/genetics , Acidosis, Respiratory/etiology , Alexander Disease/metabolism , Basal Ganglia/metabolism , Basal Ganglia/pathology , Choline/metabolism , Creatine/metabolism , DNA Mutational Analysis , Disease Progression , Electroencephalography , Fatal Outcome , Frontal Lobe/metabolism , Frontal Lobe/pathology , Head/abnormalities , Humans , Infant , Lactic Acid/metabolism , Lipid Metabolism , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Male , Mutation , Seizures/etiologySubject(s)
Arteriovenous Malformations/complications , Cervical Vertebrae/blood supply , Intracranial Hypertension/etiology , Vertebral Artery/abnormalities , Acetazolamide/therapeutic use , Adolescent , Arteriovenous Malformations/diagnosis , Diplopia/etiology , Dura Mater/blood supply , Female , Headache/etiology , Humans , Intracranial Hypertension/cerebrospinal fluid , Intracranial Hypertension/drug therapy , Papilledema/etiology , Recurrence , Subarachnoid Hemorrhage/etiology , Vomiting/etiologyABSTRACT
Brainstem vascular malformations can sometimes simulate other conditions such as multiple sclerosis and pontine glioma. We report a case of brainstem cavernous angioma for which clinical course and radiologic appearance were suggestive of a pontine glioma. The diagnosis was uncertain until the clinical and radiologic evolution made it clear that the patient had a cavernous angioma. We suggest that brainstem angioma be considered as a differential diagnosis for pontine glioma.
Subject(s)
Brain Neoplasms/pathology , Brain Stem/pathology , Glioma/pathology , Hemangioma, Cavernous/pathology , Pons/pathology , Adolescent , Diagnosis, Differential , Female , Humans , Magnetic Resonance ImagingABSTRACT
The authors report two cases of ischemic stroke secondary to occlusive vasculopathy two decades after radiation therapy (RT) for medulloblastoma. Both patients underwent posterior fossa medulloblastoma partial resection, followed by craniospinal RT in which a cobalt 60 source was used; 40 Gy were given to the whole brain plus a 15-Gy boost to the posterior fossa. Both patients received multiagent chemotherapy, immediately following radiation therapy in the first case and after repeated craniotomy for recurrence 13 years after radiation in the second case. They experienced multiple sequelae from radiation and chemotherapy, including growth retardation and psychomotor delay. However, 20 years after treatment, they remained tumor free and able to work, until they presented with focal neurological deficits and seizures. Computerized tomography and magnetic resonance imaging of the brain in both cases showed no tumor recurrence, but did demonstrate ischemia in a posterior cerebral artery distribution. Cerebral angiography revealed multiple mid-sized arterial wall irregularities as well as focal stenoses consistent with a postirradiation vasculopathy. The pathophysiological mechanisms, radiological appearance, and incidence of this syndrome are reviewed from the literature.
Subject(s)
Arterial Occlusive Diseases/etiology , Brain Neoplasms/radiotherapy , Cerebral Arterial Diseases/etiology , Cranial Irradiation/adverse effects , Medulloblastoma/radiotherapy , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Brain Ischemia/etiology , Brain Neoplasms/drug therapy , Brain Neoplasms/surgery , Cerebral Angiography , Cerebrovascular Disorders/etiology , Chemotherapy, Adjuvant , Child, Preschool , Cobalt Radioisotopes/therapeutic use , Constriction, Pathologic/etiology , Craniotomy , Growth Disorders/etiology , Humans , Magnetic Resonance Imaging , Male , Medulloblastoma/drug therapy , Medulloblastoma/surgery , Neoplasm Recurrence, Local/surgery , Psychomotor Performance/drug effects , Psychomotor Performance/radiation effects , Radiopharmaceuticals/therapeutic use , Radiotherapy Dosage , Radiotherapy, Adjuvant , Reoperation , Seizures/etiology , Tomography, X-Ray ComputedABSTRACT
In a case of alobar holoprosencephaly, a neonate who died several minutes after birth was found to have multiple facial and intracranial malformations, including cyclopia. Postmortem MR and CT findings included a single midline orbit, with two globes that contained separate lenses supplied by a single optic nerve. There were two separate superior orbital fissures and two separate lateral rectus muscles.
