Vers un rapprochement du syndrome de Klinefelter et de la psychopathie en psychiatrie légale

Klinefelter syndrome (KS) (47,XXY) is the most common aneuploidy (1/650) of sexual chromosome among male (0,1 à 0,2 % of male population) (Hong and Reiss, 2014). Because its large physical phenotypic variability (high tall, sparse hairiness, gynecomastia), this syndrome is largely underdiagnosed (less than 25 % of affected persons) (Samango-Sprouse et al., 2018). Nevertheless, cognitive variability is smaller. Normal to low average total IQ, low verbal IQ, social problems and high levels of psychiatric comorbidities including early aggressiveness are commonly described (Hong and Reiss, 2014). In Denmark, higher risks of committing sexual crime and arson (compared to criminal controls) was recently reported (Stochholm et al., 2012). Quite a few clinically relevant cases reports scattered in the literature, suggests the presence of a pattern of a specific subtype of KS inpatients among forensic population (Bénézech, 1975). However, very few studies provide quantitative or qualitative pertaining to robust results. KS well-documented neurobiological (van Rijn, 2018) (e.g. low levels of testosterone), neuropsychological (Bénézech, 1975; Hong and Reiss, 2014; Samango-Sprouse et al., 2018; Savic, 2012; Seara-Cardoso et al., 2016; Senon, 2005; Stochholm et al., 2012; van Rijn, 2018; van Rijn et al., 2008; van Rijn et al., 2018; van Rijn et al., 2014; van Rijn et al., 2012) [29] (e.g. alterations of both complex cerebral — attention, empathy — and behavioral regulation functions - inhibition, mental flexibility, emotional response modulation, control of own actions) and neuroanatomical (Hong and Reiss, 2014; Itti et al., 2003; Savic, 2012; van Rijn et al., 2008; van Rijn et al., 2012) [29] (e.g. limbic system and temporal lobe abnormal volume, hemispheric specialization shortcoming) features may be helpful to understand comorbid symptoms psychopathology. Numbers of recent studies conduct on KS pediatric or adult population provide interesting results on conduct, anxiety, psychotic and autism spectrum disorders. In addition, some authors use genetic and epigenetic specific features of sex chromosome aneuploidies (e.g. X genes neurodevelopmental role; imprinting) in order to clarify genotype-phenotype links of comorbid symptoms (Bruining et al., 2011; Zitzmann et al., 2004;). With Belgian colleagues from the Social Defense Research Center (CRDS, Tournai, Belgium), we are currently recruiting KS inpatients from security hospitals or psychiatric units in Belgium and France. We aim to assess psychopathic traits with the Psychopathy Checklist Revised (PCL-R, Hare) (Hare, 2003). Our first results concerning 3 KS males outline that PCL-R is useful for the characterization of clinical phenotype among KS forensic sample. While three of them present psychopathic traits, two of them present categorical double diagnose “psychopathy-KS” (total PCL-R score > = 30/40 (Delannoy et al., 2017)). Moreover, dimensional analysis support our hypothesis of a higher prevalence of “explosive profile” in comparison to other psychopathic profiles in our sample (Delannoy et al., 2017). The present article summarizes historic background (e.g. “psychopathy” disappearance of mental disorder reference classification schemes, “crime chromosome” (Bénézech, 1975)) and current context argues (e.g. French psychiatrists court experts widely refer to psychopathy concept despite a lack of consensual definition (Senon, 2005), weak knowledge and training of PCL-R and its related biopsychological recent findings (Blair, 2013; de Oliveira-Souza et al., 2008; Dotterer et al., 2017; Glenn and Raine, 2014; Hosking et al., 2017; Korponay et al., 2017; Pham, 1995; Pham, 2005; Raine, 2008; Raine et al., 2003); stigma and discrimination apprehensions of KS and psychopath) that motivate our research project. Finally, we discuss the advantages of our research protocol on KS participants assessed with PCL-R, such as tackling stigma and discrimination, better understanding psychopathology, and clarifying murky interactions of biological, psychological and social factors entangled in the development of these two fascinating troubles.     

Sensory axonopathy in hereditary distal spinal muscular atrophy

A girl of 14 year is presented with a distal spinal muscular atrophy (SMA) with autosomal recessive inheritance. The technical findings are in agreement with the diagnosis. Light microscopical examination of sural nerve biopsy, including teased fiber studies and morphometry, showed no abnormalities. Electron microscopical investigation however demonstrated axonal pathology. The question arises if distal SMA is a distal axonopathy mainly of motor nerves, but to some extent also of sensory nerves.     

Lateral femoral condyle osteochondral fracture caused by a patella luxation: advantages and disadvantages of PLA fixation

A lateral patella luxation is occasionally complicated by an (osteo)chondral fracture. These fractures are usually located at the inferomedial part of the patella. In this case report we describe an osteochondral fracture of the lateral femoral condyle after a dislocation of the patella. The latter is a more severe injury because it involves an important weight bearing part of the knee joint. Refixation of the osteochondral fracture should be pursued. Various surgical techniques using nonresorbable materials have been described. We describe the advantages and disadvantages of refixation with biodegradable pin fixation for an osteochondral fracture caused by a patellaluxation.     

Hereditary neuropathy with liability to pressure palsies in childhood.

Four children, index cases of families in which autosomal dominant neuropathy with liability to pressure palsies (HNPP) was diagnosed, are presented. Only one child was admitted for evaluation of an acute peroneal palsy, three presented with other symptoms. Polyneuropathy was diagnosed in all four children, in one of their parents and in some sibs. On inquiry, one child and several members of the four families had experienced transient palsies before. Morphological studies of the sural nerves showed frequently large tomacula and a neuropathic process of segmental de- and remyelination, and axonal degeneration. Attention is drawn to the atypical presentation without pressure palsies of HNPP.     

International round robin tests on the measurement of carbon in diesel exhaust particulates

Object: Diesel soot has been recognized as probably carcinogenic to humans. Elemental carbon (also called black carbon) in soot is considered at the moment as the most significant surrogate to be measured for assessing the exposure to this pollutant. Its analysis is done by combustion in an oven and determination of the CO₂ formed, after elimination of the organic fraction of the soot by heating and/or by solvent extraction. The analysis allows determination of both fractions of the soot: “elemental carbon” (EC) and organic carbon␣(OC). The sum of EC and OC is called TC (total carbon). Method: An informal European coordination group organized two round robin tests on filter samples collected from diluted diesel emissions. The first round (RRT1) was performed on 13 different samples analyzed by ten laboratories. The range of loading was 2.5 to 150 μg/cm² of EC. No evaluation of the precision within laboratories could be made since each laboratory gave only one result per sample. Therefore a second round (RRT2) was organized with two samples and a blank filter sent in several portions to 11 laboratories. It should be stressed that each laboratory used its own method and that no standardization was planned at this stage. Results: Results of RRT1 showed that the coefficient of variation between laboratories decreased with higher loading and was around 10% to 15% for EC above about 20 μg/cm². Dispersion of the results varied and it appeared that the way OC is removed from the soot is probably the most important factor of influence. The correlation between the laboratories was good as a whole but some systematic differences could be detected. Besides the different techniques to remove the organic carbon, the pretreatment of the filter by HCl (either as a vapor or as a solution) to remove the inorganic carbonates (potential interference sources), is probably also a significant factor of influence in the dispersion of the results between laboratories. It is not yet clear from these results whether the “environmental” laboratories give different results from the “occupational” laboratories, but it is clear that their objectives differ since for the “environmentalists”, EC is not a specific marker of diesel immissions, in contrast to the “occupationalists”. Conclusion: It can be concluded that, although significant differences exist between laboratories they can be attributed mainly to the narrow distribution of the results within a single laboratory, and that the overall agreement of the results for EC and TC is fairly good. These results obtained with pure diesel engine emissions, should be complemented by field samples, but they have already achieved relevant findings in the performance of the procedures used to assess exposure to diesel soot. Received: 30 December 1996 / Accepted: 21 February 1997