Subject(s)
Klippel-Trenaunay-Weber Syndrome/physiopathology , Brain/pathology , Brain/physiopathology , Female , Humans , Hypertrophy , Klippel-Trenaunay-Weber Syndrome/diagnosis , Klippel-Trenaunay-Weber Syndrome/pathology , Leg/blood supply , Leg/pathology , Middle Aged , Retinal Vessels/abnormalities , Retinal Vessels/pathology , Retinal Vessels/physiopathologyABSTRACT
A 69-year-old right-handed woman experienced, several times a day, a stereotyped feeling of warmth, rapidly followed by an urge to defecate. Magnetic resonance imaging revealed a right-sided mesial temporal cavernoma, and interictal electroencephalogram showed ipsilateral temporofrontal sharp waves. A brain lesion was absent in the only two earlier reported cases of an ictal urge to defecate. In our patient, the ictal urge to defecate seems to involve the non-dominant hemisphere and seems to probably be affecting the autonomic network.
Subject(s)
Defecation/physiology , Hemangioma, Cavernous, Central Nervous System/psychology , Seizures/psychology , Temporal Lobe/pathology , Aged , Autonomic Nervous System/physiopathology , Colonoscopy , Electroencephalography , Female , Humans , Magnetic Resonance Imaging , Nerve Net/physiopathologySubject(s)
Autoimmune Diseases/pathology , Encephalitis/pathology , Nerve Fibers, Myelinated/pathology , Putamen/pathology , Rhombencephalon/pathology , Thalamus/pathology , Adult , Autoantibodies/immunology , Autoimmune Diseases/immunology , Encephalitis/immunology , Humans , Male , Nerve Tissue Proteins/immunologyABSTRACT
Leukoencephalopathy with vanishing white matter syndrome (childhood ataxia with central nervous system hypomyelination/vanishing white matter disease) is an autosomal recessive disorder characterized by the occurrence of acute episodes of deterioration after minor head trauma or infection, and symmetrical demyelination on magnetic resonance with cavitation aspects. Mutations in each of the five subunits of eIF2B have been identified. We report in an affected man and his mother an adult-onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease-like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes.
Subject(s)
Ataxia/pathology , Dementia, Vascular/pathology , Hereditary Central Nervous System Demyelinating Diseases/pathology , Adult , Ataxia/complications , Ataxia/genetics , Dementia, Vascular/complications , Dementia, Vascular/genetics , Eukaryotic Initiation Factor-2B/genetics , Female , Hereditary Central Nervous System Demyelinating Diseases/complications , Hereditary Central Nervous System Demyelinating Diseases/genetics , Humans , Magnetic Resonance Imaging/methods , Male , MutationABSTRACT
Headaches were classified in 1988 by the International Headache Society (IHS). Postural headache is related to intracranial hypotension, most often secondary to lumbar puncture. We report three observations where headache of unknown cause led to the diagnosis of spontaneous intracranial hypotension.