technetium-tc-99m-exametazime and Dystonia

Rapid-onset dystonia-parkinsonism (RDP) is a rare, autosomal-dominantly inherited syndrome characterized by abrupt onset, over hours to days, of dystonic and parkinsonian symptoms. To date, RDP has been described in a small number of families, and in only four sporadic cases.. We here report a new sporadic case of RDP who has a novel de novo mutation in the ATP1A3 gene. Striatal dopamine transporters have been assessed quantitatively using [123I]-FP-CIT SPECT. A volume of interest (VOI) was drawn within the occipital cortex to obtain non-specific activity and specific to non-specific binding ratios (BR) were calculated. A single template of predefined VOI 3D-drawn on right and left caudate nucleus and putamen was applied to the spatially normalized BR images. BR values were compared to those obtained from an age-matched control group and from a group of patients suffering from Parkinson's disease (Hoehn and Yahr score 2 or 3). A [99mTc]-HMPAO cerebral blood flow study was also performed.. In the control group, BR values (mean+/-Standard Deviation) were 3.5+/-0.4 for the left striatum and 3.3+/-0.3 for the right one. RDP patient's values were 3 and 2.7, respectively. In the Parkinson group, values were 1.6+/-0.3 and 1.7+/-0.4, respectively. [99mTc]-HMPAO scan showed homogeneous cortical and sub-cortical perfusion.. Quantification of striatal [123I]-FP-CIT uptake in a new sporadic case of RDP with a novel mutation in the ATP1A3 gene showed values just within the range of normality. [99mTc]-HMPAO scan was normal.

Topics: Adult; Dystonia; Humans; Iodine Radioisotopes; Male; Mutation; Parkinson Disease; Sodium-Potassium-Exchanging ATPase; Technetium Tc 99m Exametazime; Tomography, Emission-Computed, Single-Photon; Tomography, X-Ray Computed

A 35-year-old female ingested a lethal dose of potassium cyanide in a suicide attempt. She survived following antidote therapy and intensive care. Following artificial coma she presented with an agitative state for several days followed by akinetic mutism, buccofacial and ideomotoric aphasia. Severe rigid-akinetic syndrome, dysarthria, dysphagia and generalized dystonia developed weeks later. MRI revealed lesions in the caudate and lentiform nuclei, precentral cortex, and cerebellum. SPECT by [123-I] 2 beta-carbomethoxy-3-beta-(4-iodophenyl)-Tropan on two occasions revealed progressive loss of dopamine transporter suggestive of nigral neuronal apoptosis. Striatal and frontal hypometabolism and hypoperfusion were found by FDG-PET and HMPAO SPECT.

Topics: Adult; Akinetic Mutism; Cocaine; Dystonia; Female; Fluorodeoxyglucose F18; Humans; Magnetic Resonance Imaging; Positron-Emission Tomography; Potassium Cyanide; Suicide, Attempted; Technetium Tc 99m Exametazime; Tomography, Emission-Computed, Single-Photon

Dystonic posturing (DP) is one of the most reliable lateralizing indicators for temporal lobe epilepsy (TLE). We evaluated the ictal hyperperfusional areas in patients with DP by using ictal-interictal subtraction single-photon emission computed tomography (SPECT).. Ninety-seven patients were treated surgically for intractable TLE, and 39 patients underwent ictal and interictal SPECT studies with the same isotope. These patients were divided into three groups: group I with DP of the contralateral side extended to the epileptogenic focus, group II with elevated muscle tonus but without DP, and group III without DP or alteration of muscle tonus. Ictal, interictal SPECT and thin-slice magnetic resonance imaging (MRI) were overlaid by using the automatic multimodality registration program to construct ictal-interictal subtracted images of SPECT on MRI.. Thirteen patients belonged to group I; 14, to group II; and 12, to group III. A statistically significant difference in hyperperfusion rate was observed in the putamen (10 patients in group I, three in group II and two in group III; p < 0.01) and mesial temporal lobe (10 patients in group I, seven in group II, and two in group III; p < 0.05) on the ipsilateral side of the epileptogenic focus. No statistically significant difference was observed for other ictal symptoms except ipsilateral upper-limb automatism (eight patients in group I, three in group II, and none in group III; p < 0.01).. A strong correlation between DP and hyperperfusion in the putamen and mesial temporal lobe was demonstrated. Some patients showed a wide hyperperfusion area extending from the mesial temporal lobe to putamen, which may correspond to the propagation of epileptic discharges. Our results suggest a correlation between hyperperfusion of putamen and contralateral dystonic posturing.

Topics: Adolescent; Adult; Brain Mapping; Child; Dystonia; Epilepsy, Temporal Lobe; Female; Functional Laterality; Humans; Image Processing, Computer-Assisted; Iodine Radioisotopes; Magnetic Resonance Imaging; Male; Middle Aged; Muscle Tonus; Posture; Putamen; Subtraction Technique; Technetium Tc 99m Exametazime; Tomography, Emission-Computed, Single-Photon

A 9 1/2-year-old girl suffered from intermitting tremor and jitteriness of her left hand and oral muscles every 4 to 6 weeks with long lasting episodes. Clinically myoclonias and dystonic positioning of the left arm, hand and facial muscles were seen. No evidence of trauma, infection or inborn errors of metabolism was found. Successful therapy with carbamazepine was initiated while L-DOPA failed. An ictal 99m-Tc-HMPAO-SPECT showed severe asymmetry with focal hyperperfusion of the contralateral right thalamus and basal ganglia as well as of the bifrontal cortex, whereas no anatomical lesions were found by MRI. In contrast, an interictally performed 99m-Tc-HMPAO SPECT showed hypoperfusion of the right thalamus and normalisation of the frontal perfusion under medical treatment. These 99m-Tc-HMPAO-SPECT findings may provide new insights into the localisation and pathophysiological pathways of idiopathic childhood dystonia.

Topics: Anticonvulsants; Brain; Carbamazepine; Cerebrovascular Circulation; Child; Dystonia; Female; Follow-Up Studies; Functional Laterality; Humans; Levodopa; Magnetic Resonance Imaging; Radiopharmaceuticals; Regional Blood Flow; Technetium Tc 99m Exametazime; Tomography, Emission-Computed, Single-Photon

We report the history of a 38 year old patient who began to develop mental deterioration at the age of 26. After a time of 7 years neurological signs like writing dystonia occurred. Hallervorden-Spatz-Disease (HSD) was diagnosed at the age of 36 in vivo with the clinical presentation of severe dystonia, rigidity, dementia, and typical signal loss in the globus-pallidus the reticular part of the substantia nigra, and the nucleus ruber in the T-2 weighted MRI. The "eye-of-the-tiger"-sign, a bilateral hyperintensity in the rostral globus pallidus, was not observed in follow-up examinations. HSD is a rare autosomal-recessive or sporadic disease of unknown etiology. In one third of the patients a dementing process is the first clinical sign of the disorder, and is a rare differential diagnosis of early onset dementia.

Topics: Adult; Atrophy; Brain; Cognition Disorders; Dementia; Diagnosis, Differential; Disease Progression; Dystonia; Globus Pallidus; Humans; Magnetic Resonance Imaging; Male; Pantothenate Kinase-Associated Neurodegeneration; Red Nucleus; Substantia Nigra; Technetium Tc 99m Exametazime; Tomography, Emission-Computed, Single-Photon

A patient with severe, generalized dystonia and 6 age range-matched controls were studied with the regional cerebral blood flow tracer technetium-99m hexamethylpropyleneamine oxime by single-photon emission computed tomography to test the hypothesis that cerebellar function is abnormal in dystonia. Analysis was performed by drawing regions of interest around the caudate head nuclei, hemithalami, deep cerebellar nuclei, and cerebellar hemicortices. The counts in each region of interest were normalized to whole brain cerebral blood flow in an identical manner for each subject. The dystonic patient had a difference in regional cerebral blood flow between the right and left deep cerebellar nuclei, increased regional cerebral blood flow in subcortical motor structures, and an abnormal relationship between right cerebellar cortical and right deep cerebellar nuclear regional cerebral blood flow. The findings in this patient provide evidence that the cerebellum may play a role in the pathophysiology of motor signs in some patients with dystonia.

Topics: Brain; Brain Mapping; Cerebellar Nuclei; Child; Contrast Media; Dominance, Cerebral; Dystonia; Female; Follow-Up Studies; Humans; Neurologic Examination; Organotechnetium Compounds; Oximes; Regional Blood Flow; Technetium Tc 99m Exametazime; Tomography, Emission-Computed, Single-Photon