[Lipodystrophy and gigantism in a child with an intracranial tumor].
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Biomedical subjects
Publications and source records attributed to F Girotti.
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Previous reports have suggested that putaminal hypointensity in T2-weighted images at high field strength (1.5 T) magnetic resonance (MR) is a common finding in atypical parkinsonian syndromes, including progressive supranuclear palsy (PSP) and Shy-Drager syndrome (SDS). We have reviewed nine patients with PSP and five with SDS, selected on strict clinical criteria. Only in one PSP patient was abnormal signal intensity (putaminal hypointensity more marked than pallidal) found. However, hypointensity was often marked in the substantia nigra and occasionally in the superior colliculi. Focal midbrain atrophy, involving particularly the upper part of the quadrigeminal plate, was obvious in five cases. In general there was no uniformity of findings and MR appears unable to consistently support the clinical diagnosis of PSP. In SDS patients the findings were more uniform, with hypointensity in the putamen, superior or equal to that of the pallidum. At low or intermediate field strength, there was absence of magnetic susceptibility effect in the putamen, which appeared hyperintense. This was probably because of increased water content due to gliosis and/or cell loss. The constancy of the MR findings in our SDS series suggests a supportive diagnostic role for MR imaging.
A patient with Sneddon's syndrome in association with renal neoplasm is discussed. The association has not been reported before and raises questions concerning the pathogenesis of vascular proliferation in Sneddon's syndrome.
Focal reflex myoclonus was observed in a patient clinically diagnosed as affected by corticobasal degeneration. Myoclonus was not preceded by a cortical discharge and contralateral parietal components of the somatosensory evoked potentials were reduced in amplitude. No simple pathophysiological mechanism can account for all cases of focal reflex myoclonus seen in clinical practice.
The Fuld formula and the linear discriminant function applied to WAIS subtest scores were tested for their ability to identify Alzheimer's disease and senile dementia of the Alzheimer type in a group of 101 demented subjects. The sensitivity and specificity of Fuld's formula for Alzheimer dementia against other dementias were 44.2% and 73.8% respectively; when compared with an age-matched normal control group specificity was 91.4%. When the linear discriminant function was applied only WAIS subtest scores in "similarities and digit span" and "object assembly" significantly differentiated Alzheimer from other dementias (sensitivity 61.5% and specificity 63.3%). Specificity increased to 97.1% when the function was applied to discriminate Alzheimer from normal controls. Discriminant analysis applied to other WAIS subtests for the two demented groups revealed "picture completion" as significantly differentiating the groups but it did not contribute to diagnostic accuracy. WAIS scores are of limited value in the differential diagnosis of dementias.
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The results of a study of the activity of platelet monoamine oxidase (MAO) in patients with migraine or with "Cluster headache" during the acute phases and after treatment with L-5-hydroxytryptophan are presented. MAO levels are higher in migraine subjects than in normals. There is, also, a clear difference between basal MAO levels in migraine sufferers and in Cluster Headache sufferers. The treatment with L-5-hydroxytryptophan tend to normalize MAO activity in the migraine patients, but does not change the MAO activity in cluster headache patients.
The case of a patient affected by progressive multifocal myoclonus associated with inflammatory reaction in the cerebrospinal fluid is reported. A multiple sclerosis diagnosis is suggested, even if typical disease course and features are lacking.
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We report a patient with long-standing asymmetrical parkinsonism, cerebellar ataxia and dysautonomia, suggestive of multiple system atrophy (MSA). However, the patient also developed involuntary repetitive movements similar to ballic dyskinesias and mental deterioration. MRI revealed major involvement of both posterior fossa structures and basal ganglia. The case would be accommodated within a rubric of MSA widened to include involvement of the subthalamic nucleus and the medial part of the pallidum, pathology which may account for the ballic movements. Additionally the patient's cognitive and behavioural disturbances suggest an impairment of striato-prefrontal cortex loop.