Le syndrome de Klinefelter : une prédisposition au crime sexuel ?

BackgroundSeveral studies have reported over-representation of psychiatric disorders among patients with Klinefelter’ Syndrome (KS), with forensic complications.ObjectiveConsider determinants of sexual assault in patient with KS.ReviewIn this work, we present the case of Jules, 23 years old, with KS, benefiting from steroid replacement therapy, convicted of rape of a minor and evaluated in this context. We question here the role of his genetic pathology and of his hormonal treatment in this sexual assault.FindingsAccording to evidence from the literature, it is not possible to determine with certainty the fair value of each factor and their impact on the occurrence of the sexual criminal act. Indeed, although the crime rate among KS subjects is higher than in the general population, the majority of them have never been in trouble with the law; moreover, these subjects were no more likely to commit violent sexual acts than were criminals without KS. As for hormonal treatment, it seems that testosterone is better viewed as a facilitator of initiating an aggressive response than as a primary inductor.ConclusionIn conclusion, the onset of sexual violence that accompanied the introduction of hormonal treatment into a patient with KS suggests an effective involvement of steroid replacement therapy, even small, in the criminal act. This must incite clinicians to extreme prudence and to take account of multidisciplinary expertise (psychiatrist, endocrinologist) in order to reconsider the continuation of the treatment in this particular forensic context. Finally, we discuss other factors that can precipitate such a violent act.     

Bernard–Soulier syndrome in pregnancy

Bernard–Soulier syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder. Pregnancy in patients with BSS is characterized by ante‐, intra‐, or postpartum haemorrhage, which may be delayed and severe. There is no consensus in the management of BSS in pregnancy and so far only 16 pregnancies in nine patients have been described. We report a further three pregnancies in two women with the syndrome. We also outline our management of pregnant patients with BSS.     

Photodynamic therapy in the management of a patient with Gorlin syndrome (naevoid basal cell carcinoma syndrome)

Gorlin syndrome (naevoid basal cell carcinoma syndrome) is a genetically linked disorder characterized by the development of multiple basal cell carcinomas (BCCs) throughout life. Cumulative surgery, cryotherapy and other conventional interventions can result in significant disfigurement by middle age. Radiotherapy is contra-indicated because the mutated gene underlying the syndrome, ‘PTCH’, increases sensitivity to ionising radiation, so there is significant likelihood of inducing further tumours in and around the irradiated area. Photodynamic therapy offers a non-invasive treatment option for patients with this condition, with the added advantage of causing minimal scarring.     

Anton’s syndrome due to a giant anterior fossa meningioma. The problem of routine use of advanced diagnostic imaging in psychiatric care

Summary We present a case of blindness and Anton’s syndrome in a psychiatric patient with late diagnosis of a giant frontal meningioma. The criteria for advanced diagnostic imaging in the psychiatric population are discussed. We conclude that MR or CT scan is indicated in psychiatric in-patients who fail to improve with standard psychiatric treatment. This strategy should be submitted to a cost-benefit analysis.     

A case of acute heart failure associated with Guillain-Barré syndrome

Abstract Guillain-Barré syndrome (GBS) is a disease of the peripheral nervous system, which is caused by aberrant immune responses directed against some components of peripheral nerves. GBS is rarely accompanied by cardiovascular involvement. We describe a case of acute neuropathy complicated by sudden heart failure and left ventricular dysfunction which had a presumably neurogenic origin. Pathogenesis of acute heart failure is probably due to transitorial stunned myocardium and neurogenic cardiac injury. We show a rare case of transitorial and acute cardiac dysfunction by echocardiography and laboratory markers of heart failure.     

Case of a palatal tic resembling palatal tremor in a patient with Tourette syndrome.

We describe a case of a palatal tic resembling palatal tremor (PT) in a young female patient with a previously unrecognized mild Tourette syndrome. At the time of her visit, the patient complained about ear clicks that were audible to others. We discuss the differential diagnoses of hyperkinetic palatal movements emphasizing the ongoing discussion about essential PT representing a more heterogeneous disorder than previously thought.     

EQUAL FREQUENCY OF TEL/AML1 ACUTE LYMPHOBLASTIC LEUKEMIA IN CHILDREN WITH AND WITHOUT DOWN SYNDROME

Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). Thus, it was somewhat surprising that according to the currently available literature the incidence of TEL/AML1+ BCP ALL is extremely low in patients with Down syndrome (DS). To further investigate this issue in a population-based fashion, the authors retrospectively assessed the number of DS patients with a TEL/AML1+ ALL in two consecutive Austrian ALL multicenter trials. Accordingly, they were able to analyze 8 of 10 individuals with DS and a BCP ALL, including 2 who suffered from a TEL/AML1+ leukemia. Based on this observation we concluded that individuals with a constitutional trisomy 21 may have the similar likelihood to develop a TEL/AML1+ leukemia as BCP ALL patients without this specific predisposing factor.     

Neuropsychological Findings: Myoclonic Astatic Epilepsy (MAE) and Lennox-Gastaut Syndrome (LGS)

Summary:  Purpose: To identify a specific neuropsychological profile associated with myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS).
Methods: Seven patients diagnosed with MAE and four patients diagnosed with LGS were selected from patients referred to our Child Neurology Unit. The patients were assessed both clinically (awake, sleep, Holter EEG, seizures frequency, and semiology) and neuropsychologically (IQ, language, attention, visuospatial and visuomotor abilities, and behavior). One representative case of each syndrome is presented here.
Results: The clinical picture of the MAE patient resembled that of an MAE condition associated with transitory epileptic encephalopathy. The neuropsychological findings suggest that electroclinical anomalies can temporarily affect cognitive and behavioral functioning. Early effective antiepileptic drug (AED) treatment was found to improve cognitive outcome. In contrast, LGS was associated with mental retardation, which persisted after seizure control.
Conclusions: At present, it remains difficult to delineate a precise neuropsychological profile associated with MAE and LGS. The cognitive outcome of MAE is variable and depends on the clinical pattern. With regard to LGS, the hypothesis of a genetic predisposition underlying both the epilepsy and the mental retardation is still valid. Alternatively, exposure to subclinical electrophysiological anomalies during a critical period of cerebral development may be responsible for the mental retardation. At the time the clinical manifestations appear, drug treatment, even if effective, would have only limited impact on cognitive outcome. However, early multidisciplinary intervention may help to improve behavior and communicative abilities, enhancing the quality of life of these children and their families.