Biomedical subjects
Publications and source records attributed to P Mariotti.
Diurnal enuresis is very uncommon and may be related to early onset parent-to-child relationship disorders. As a symptom, enuresis can hinder nursery school socialization or can arise at this time. Two case-reports illustrate such an hypothesis.
We have studied median nerve somatosensory evoked potentials (SEPs) in a patient who had undergone early surgical removal of the left cerebral hemisphere and left thalamus. Stimulation of the right side evoked normal latency P9, P11 and P13 potentials at scalp as well as at nasopharyngeal (NP) leads, while P14 and N18 potentials were absent. These SEP abnormalities, that have been described previously in cervico-medullary lesions and in comatose patients with upper brain-stem involvement, suggest that in our patient the removal of the left thalamus has caused retrograde degeneration of the cuneate-thalamic projections. Moreover, this study confirms that P13 and P14 potentials have different generators.
Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as "cerebro-facio-articular" syndrome.
In this paper I have discussed some thoughts about the effect of the analyst's pregnancy on her patients, using material from my own experience. In the first part of the paper I have examined some of the issues evoked in the countertransference especially in the first trimester of pregnancy, when, because of my concern about the health of the foetus I was reluctant to inform patients of my state. In the latter part of the paper I have focused on some of my patients' responses as expressed in the transference: in particular on the question of how patients dealt with learning of and thinking about my pregnancy, which involved a threat to the sense of unity, fusion and non-separateness from me that in some cases were of paramount importance. To do this I have discussed at some length clinical material relating to two patients, the first a woman whose own pregnancy followed mine, in an imitative fashion that both denied any difference between us and also allowed her to develop her capacity to be a mother; the second a man who initially understood my pregnancy as rejecting of him, persecuting and guilt-provoking, and saw it as an event either unthinkable and/or to be dealt with omnipotently.
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Forty-three patients affected with Alzheimer's disease were identified in a kindred of Italian origin, emigrated in part to the U.S.A. and France. Thirteen were known by history, 21 by medical record, and 9 by personal examination, of whom 5 were confirmed histopathologically. The clinical picture was fairly uniform: the first symptom was memory loss beginning around age 40. Psychotic-like symptoms often followed, with rapid evolution into profound dementia, and death around age 50. Akinesia was prominent at a late stage, often with myoclonus. Grand mal seizures sometimes occurred, with occasional interictal spike and wave discharge; repetitive paroxystic periodic discharges were never recorded. A genealogical study, as far as possible free from line bias, has been conducted mainly by analysis of municipal records. 1 435 subjects in 10 generations, linked to affected subjects through ascent/descent or marriage, were listed in a computer file; the corresponding genealogical tree or selected part thereof are generated by computer. Application of Bayesian techniques to demographic data makes possible an estimation of disease probability in subjects for which no clinical data were available: such an estimate was confirmed by the later discovery of a living patient in descent of a subject with 0.7 estimated disease probability. No patient was found in descent from an inbred union known as such. Patients are the only transmitters. The sex ratio is not significantly different from 1. There is no detectable maternal effect. The segregation ratio, as calculated from extensively known sibships, lies in the range 0.65 to 0.89; the lower value itself is significatively higher than the 0.5 value expected in an autosomal dominant monogenic Mendelian transmission. An environment factor is ruled out by the diversity of locations and circumstances in kindred members. Such a kindred may represent an useful model for fundamental studies in Alzheimer's disease and senile dementia of the Alzheimer type.
A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.
The nucleus basalis of Meynert (nbM) was studied morphometrically in three Guamanians with parkinsonism-dementia (PD) and in two Guamanian and two non-Guamanian controls. Paraffin-embedded blocks of the nbM were serially sectioned (20 microns thick) at increments of 200 microns so that a total of 24 sections (eight each from the anterior, intermediate and posterior sectors of the nbM) were studied. The mean cell density was determined for each sector and the diameter of 50 neurons, randomly chosen in the region of apparent maximal density, was calculated. A decrease of the mean cell density, due to the loss of neurons with diameters larger than 20 microns, was found in the PD cases compared to the controls. Two PD patients exhibited striking neuronal loss (65-95%) with predominant involvement of the intermediate and posterior sectors, while the third case showed only minimal neuronal loss in these sectors (15-40%). In both Guamanian and non-Guamanian controls large neurons (diameters greater than or equal to 20 microns) exceeded small neurons while the reverse was true in all sectors of the nbM for the PD cases. These data, while confirming a previous study reporting neuronal loss in the nbM of PD patients, underline the importance of detailed morphometric analysis of the different sectors of the nbM to recognize those patients in whom lesions are not uniformly distributed.
A new case of subacute sclerosing panencephalitis with onset in adult life is reported. Clinical picture was characterized by a maculopathy, followed two years after by behavioural disturbances, psychomotor impairment, pyramidal signs and left-side myelonic jerks synchronously with the typical periodic R-complex in the EEG. CT-scan and MRI showed a wide demyelinative lesion in the right temporo-occipital area of the brain. Elevated antibody titers to measles virus in serum and CSF were present. Death occurred within 6 months while in coma. The neuropathologic findings confirmed the diagnosis of SSPE revealing widespread inflammatory lesions in the grey and white matter areas of demyelinization more evident in the right temporo-occipital regions and several Cowdry type A inclusions in glial cells and neurons.